Disease 指定難病
疾患数 : 338 - 臨床試験総数 : 33,695 / 薬物総数 : 21,110 - ( DrugBank : 2,155 ) / 標的遺伝子総数 : 623 - 標的パスウェイ総数 : 291
告示 番号 | 疾患名 [疾患群] | 臨床試験数 Phase 1 / 2 / 3 / 4 | 薬物数 [ DrugBank ] | 標的遺伝子数 パスウェイ数 | 国内患者数 - (1) 概要、診断基準等, (2) 医療費受給者証所持者数 (2021年度) |
---|---|---|---|---|---|
1 | 球脊髄性筋萎縮症 [神] 💬 "Spinal and bulbar muscular atrophy", "Spinobulbar muscular atrophy", "SBMA", "Kennedy disease", "Kennedy-Alter-Sung syndrome" | 17 17 trials 0 / 9 / 2 / 1 💬 | 16 16 drugs [ 8 8 drugs ] | 10 10 genes 17 pathways | 1641 (1) 1,223人 (2) 1,641人 年齢分布💬 |
2 | 筋萎縮性側索硬化症 [神] 💬 "Amyotrophic lateral sclerosis", "ALS" | 624 624 trials 230 / 280 / 220 / 27 💬 | 611 611 drugs [ 160 160 drugs ] | 172 172 genes 225 pathways | 9968 (1) 9,096人 (2) 9,968人 年齢分布💬 |
3 | 脊髄性筋萎縮症 [神] 💬 "Spinal muscular atrophy", "Myelopathic muscular atrophy", "Spinal muscular atrophy type I", "SMA I", "Werdnig-Hoffman disease", "Spinal muscular atrophy type II", "SMA II", "Dubowitz disease", "Spinal muscular atrophy type III", "SMA III", "Kugelberg-Welander disease", "Spinal muscular atrophy type IV", "SMA IV" | 217 217 trials 112 / 116 / 102 / 27 💬 | 149 149 drugs [ 33 33 drugs ] | 54 54 genes 80 pathways | 929 (1) 712人 (2) 929人 年齢分布💬 |
4 | 原発性側索硬化症 [神] 💬 "Primary lateral sclerosis", "PLS" | 7 7 trials 3 / 2 / 0 / 1 💬 | 17 17 drugs [ 9 9 drugs ] | 19 19 genes 32 pathways | 140 (1) 175人(研究班による) (2) 140人 年齢分布💬 |
5 | 進行性核上性麻痺 [神] 💬 "Progressive supranuclear palsy", "PSP" | 95 95 trials 46 / 43 / 11 / 6 💬 | 119 119 drugs [ 40 40 drugs ] | 65 65 genes 108 pathways | 12557 (1) 約8,100人 (2) 12,557人 年齢分布💬 |
6 | パーキンソン病 [神] 💬 "Parkinson disease", "Disease Parkinson's" | 2,298 2,298 trials 830 / 689 / 593 / 293 💬 | 2,202 2,202 drugs [ 350 350 drugs ] | 188 188 genes 202 pathways | 140473 (1) 約108,800人(パーキンソン病関連疾患から推計) (2) 140,473人 年齢分布💬 |
7 | 大脳皮質基底核変性症 [神] 💬 "Corticobasal degeneration", "Corticobasal syndrome", "CBD" | 18 18 trials 5 / 3 / 1 / 0 💬 | 35 35 drugs [ 13 13 drugs ] | 9 9 genes 38 pathways | 4517 (1) 3,500人 (2) 4,517人 年齢分布💬 |
8 | ハンチントン病 [神] 💬 "Huntington disease", "Huntington chorea" | 229 229 trials 119 / 123 / 50 / 16 💬 | 193 193 drugs [ 60 60 drugs ] | 84 84 genes 158 pathways | 918 (1) 933人 (2) 918人 年齢分布💬 |
9 | 神経有棘赤血球症 [神] 💬 "Neuroacanthocytosis", "Choreoacanthocytosis", "Chorea-acanthocytosis", "Levine-Critchley syndrome", "McLeod syndrome", "Huntington disease-like 2", "HDL2", "Pantothenate kinase-associated neurodegeneration", "PKAN", "Hallervorden-Spatz syndrome" | 0 - | 0 - | 0 - | 35 (1) 100人未満(研究班による) (2) 35人 年齢分布💬 |
10 | シャルコー・マリー・トゥース病 [神] 💬 "Charcot-Marie-Tooth disease", "CMT", "Charcot-Marie-Tooth disease type 1", "CMT1", "Demyelinating CMT", "Charcot-Marie-Tooth disease type 2", "CMT2", "Axonal CMT", "Intermediate Charcot-Marie-Tooth disease", "CMT-I", "Intermediate CMT" | 39 39 trials 23 / 16 / 24 / 4 💬 | 44 44 drugs [ 9 9 drugs ] | 11 11 genes 15 pathways | 781 (1) 6,250人(研究班による) (2) 781人 年齢分布💬 |
11 | 重症筋無力症 [神] 💬 "Myasthenia gravis", "MG", "Generalized myasthenia gravis", "Generalized MG", "GMG", "Systemic myasthenia gravis", "Systemic MG", "Ocular myasthenia gravis", "Ocular MG", "OMG" | 315 315 trials 109 / 100 / 194 / 27 💬 | 232 232 drugs [ 77 77 drugs ] | 46 46 genes 126 pathways | 25568 (1) 22,998人 (2) 25,568人 年齢分布💬 |
12 | 先天性筋無力症候群 [神] 💬 "Congenital myasthenic syndrome", "End-plate acetylcholine receptor deficiency", "Slow-channel congenital myasthenic syndrome", "Fast-channel congenital myasthenic syndrome", "Sodium channel myasthenia", "End-plate acetylcholine esterase deficiency", "Congenital myasthenic syndrome with episodic apnoea", "Dok-7 myasthenia", "DOK7 congenital myasthenic syndrome" | 5 5 trials 1 / 0 / 0 / 0 💬 | 7 7 drugs [ 3 3 drugs ] | 5 5 genes 13 pathways | 11 (1) 100人未満(研究班による) (2) 11人 年齢分布💬 |
13 | 多発性硬化症/視神経脊髄炎 [神] 💬 "Multiple sclerosis/Neuromyelitis optica", "Multiple sclerosis", "MS", "Neuromyelitis optica", "Neuromyelitis optica spectrum disorder", "NMOSD", "Balo concentric sclerosis", "Baló concentric sclerosis" | 3,342 3,342 trials 1052 / 784 / 1218 / 508 💬 | 2,355 2,355 drugs [ 406 406 drugs ] | 269 269 genes 241 pathways | 21967 (1) 17,073人 (2) 21,967人 年齢分布💬 |
14 | 慢性炎症性脱髄性多発神経炎/多巣性運動ニューロパチー [神] 💬 "Chronic inflammatory demyelinating polyneuropathy", "Chronic inflammatory demyelinating poly (radiculo) neuropathy", "CIDP", "Multifocal motor neuropathy" | 167 167 trials 45 / 87 / 74 / 15 💬 | 158 158 drugs [ 38 38 drugs ] | 13 13 genes 23 pathways | 5108 (1) 4,633人 (2) 5,108人 年齢分布💬 |
15 | 封入体筋炎 [神] 💬 "Inclusion body myositis" | 42 42 trials 31 / 18 / 24 / 5 💬 | 60 60 drugs [ 16 16 drugs ] | 12 12 genes 123 pathways | 756 (1) 1,000人(研究班による) (2) 756人 年齢分布💬 |
16 | クロウ・深瀬症候群 [神] 💬 "Crow-Fukase syndrome", "POEMS syndrome", "Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome", "Takatsuki disease", "PEP syndrome", "Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome" | 13 13 trials 1 / 9 / 2 / 0 💬 | 18 18 drugs [ 8 8 drugs ] | 5 5 genes 81 pathways | 223 (1) 340人(研究班による) (2) 223人 年齢分布💬 |
17 | 多系統萎縮症 [神] 💬 "Multiple system atrophy", "MSA-C", "MSA-P", "Olivopontocerebellar atrophy", "OPCA", "Striatonigral degeneration", "Shy-Drager syndrome" | 118 118 trials 50 / 35 / 41 / 8 💬 | 163 163 drugs [ 49 49 drugs ] | 61 61 genes 112 pathways | 11255 (1) 11,733人 (2) 11,255人 年齢分布💬 |
18 | 脊髄小脳変性症(多系統萎縮症を除く。) [神] 💬 "Spinocerebellar degeneration", "SCD", "Spinocerebellar ataxia type I", "SCA1", "Spinocerebellar ataxia type II", "SCA2", "Spinocerebellar ataxia type III", "SCA3", "Machado-Joseph disease", "Spinocerebellar ataxia type VI", "SCA6", "Spinocerebellar ataxia type VII", "SCA7", "Spinocerebellar ataxia type X", "SCA10", "Spinocerebellar ataxia type XII", "SCA12", "Dentatorubural pallidoluysian atrophy", "Dentatorubropallidoluysial atrophy", "DRPLA", "Naito-Koyanagi disease", "Friedreich ataxia", "FRDA", "Ataxia with vitamin E deficiency", "AVED", "Early-onset ataxia with ocular motor ataxia and hypoalbuminemia", "EOAH" | 71 71 trials 18 / 42 / 18 / 5 💬 | 99 99 drugs [ 30 30 drugs ] | 45 45 genes 65 pathways | 26630 (1) 25,447人 (2) 26,630人 年齢分布💬 |
19 | ライソゾーム病 [代] 💬 "Lysosomal storage disease", "Lysosomal disease", "Gaucher disease", "Niemann-Pick disease type A/B", "Niemann-Pick type A", "NPD-A", "NPA", "Niemann-Pick type B", "NPD-B", "NPB", "Acid sphingomyelinase deficiency", "ASMD", "Niemann-Pick disease type C", "Niemann-Pick type C", "NPD-C", "NPC", "GM1-gangliosidosis", "GM1-gangliosidoses", "GM2-gangliosidosis", "GM2-gangliosidoses", "Tay-Sachs disease", "Sandhoff disease", "Krabbe disease", "Metachromatic leukodystrophy", "MLD", "Multiple-sulfatase deficiency", "Farber disease", "Mucopolysaccharidosis type I", "Mucopolysaccharidosis I", "MPS I", "Hurler syndrome", "Hurler-Scheie syndrome", "Scheie syndrome", "Mucopolysaccharidosis type II", "Mucopolysaccharidosis II", "MPS II", "Hunter syndrome", "Mucopolysaccharidosis type III", "Mucopolysaccharidosis III", "MPS III", "Sanfilippo syndrome", "Mucopolysaccharidosis type IV", "Mucopolysaccharidosis IV", "MPS IV", "MPS IVA", "Morquio syndrome", "Morquio A syndrome", "Mucopolysaccharidosis type VI", "Mucopolysaccharidosis VI", "MPS VI", "Maroteaux-Lamy syndrome", "Mucopolysaccharidosis type VII", "Mucopolysaccharidosis VII", "MPS VII", "Sly syndrome", "Mucopolysaccharidosis type IX", "Mucopolysaccharidosis IX", "MPS IX", "Hyaluronidase deficiency", "Sialidosis", "Galactosialidosis", "Mucolipidosis II", "Mucolipidosis type II", "I-cell disease", "Mucolipidosis III", "Mucolipidosis type III", "Alpha-Mannosidosis", "Alpha-Mannosidase Deficiency", "Beta-Mannosidosis", "Beta-Mannosidase Deficiency", "Fucosidosis", "Aspartylglucosaminuria", "Schindler disease", "Kanzaki disease", "Pompe disease", "Acid lipase deficiency", "Wolman disease", "Cholesterol ester storage disease", "Danon disease", "Free sialic acid storage disease", "Infantile sialic acid storage disease", "ISSD", "Salla disease", "Ceroid lipofuscinosis", "Fabry disease", "Cystinosis" | 854 854 trials 537 / 349 / 316 / 126 💬 | 716 716 drugs [ 105 105 drugs ] | 70 70 genes 191 pathways | 1582 (1) 911人 (2) 1,582人 年齢分布💬 |
20 | 副腎白質ジストロフィー [代] 💬 "Adrenoleukodystrophy", "ALD", "Childhood cerebral adrenoleukodystrophy", "Childhood cerebral ALD", "CCALD", "Adolescent cerebral adrenomyeloneuropathy", "AdolCALD", "Adrenomyeloneuropathy", "AMN", "Adult cerebral adrenoleukodystrophy", "ACALD", "Cerebellum-brain stem type adrenoleukodystrophy", "Addison-only adrenoleukodystrophy", "AO ALD", "Adrenoleukodystrophy (Female onset)" | 53 53 trials 45 / 32 / 27 / 8 💬 | 88 88 drugs [ 31 31 drugs ] | 23 23 genes 123 pathways | 252 (1) 193人 (2) 252人 年齢分布💬 |
21 | ミトコンドリア病 [代] 💬 "Mitochondrial disease" | 33 33 trials 6 / 18 / 10 / 2 💬 | 42 42 drugs [ 32 32 drugs ] | 47 47 genes 67 pathways | 1608 (1) 1,087人 (2) 1,608人 年齢分布💬 |
22 | もやもや病 [神] 💬 "Moyamoya disease", "Occlusive disease in circle of Willis" | 14 14 trials 1 / 1 / 1 / 3 💬 | 21 21 drugs [ 14 14 drugs ] | 28 28 genes 44 pathways | 13431 (1) 15,177人 (2) 13,431人 年齢分布💬 |
23 | プリオン病 [神] 💬 "Prion disease", "Creutzfeldt-Jakob disease", "CJD", "Sporadic Creutzfeldt-Jakob disease", "Sporadic CJD", "sCJD", "Gerstmann-Straussler-Scheinker syndrome", "GSS", "Fatal familial insomnia", "FFI", "Environmentally acquired CJD", "Kuru disease", "Iatrogenic CJD", "iCJD", "Variant CCJD", "vCJD" | 4 4 trials 0 / 1 / 0 / 0 💬 | 5 5 drugs [ 2 2 drugs ] | 0 - | 481 (1) 584人 (2) 481人 年齢分布💬 |
24 | 亜急性硬化性全脳炎 [神] 💬 "Subacute sclerosing panencephalitis", "SSPE" | 0 - | 0 - | 0 - | 66 (1) 約100人 (2) 66人 年齢分布💬 |
25 | 進行性多巣性白質脳症 [神] 💬 "Progressive multifocal leukoencephalopathy", "PML", "Leukoencephalopathy, progressive multifocal" | 25 25 trials 3 / 6 / 0 / 2 💬 | 35 35 drugs [ 21 21 drugs ] | 8 8 genes 37 pathways | 88 (1) 100人未満(研究班による) (2) 88人 年齢分布💬 |
26 | HTLV-1関連脊髄症 [神] 💬 "HTLV-1-associated myelopathy", "Tropical spastic paraparesis", "HTLV-1", "HTLV-I-associated myelopathy" | 28 28 trials 10 / 14 / 10 / 0 💬 | 48 48 drugs [ 28 28 drugs ] | 38 38 genes 127 pathways | 977 (1) 3,000人 (研究班による) (2) 977人 年齢分布💬 |
27 | 特発性基底核石灰化症 [神] 💬 "Idiopathic basal ganglia calcification", "IBGC", "Fahr disease", "Familial idiopathic basal ganglia calcification", "FIBGC", "Primary familial brain calcification", "PFBC" | 0 - | 0 - | 0 - | 127 (1) 200人(研究班による) (2) 127人 年齢分布💬 |
28 | 全身性アミロイドーシス [代] 💬 "Systemic amyloidosis", "AL amyloidosis", "Immunoglobulin light chain amyloidosis", "Amyloid light-chain amyloidosis", "Immunoglobulin-related amyloidosis", "Reactive AA amyloidosis", "Senile transthyretin amyloidosis", "Senile TTR amyloidosis", "Senile systemic amyloidosis", "Familial amyloidosis", "Familial amyloid polyneuropathy", "FAP" | 261 261 trials 95 / 115 / 103 / 13 💬 | 276 276 drugs [ 81 81 drugs ] | 68 68 genes 178 pathways | 4588 (1) 1,802人 (2) 4,588人 年齢分布💬 |
29 | ウルリッヒ病 [神] 💬 "Ullrich disease", "Ullrich congenital muscular dystrophy", "Collagen VI-related myopathy" | 0 - | 0 - | 0 - | 21 (1) 約300人(研究班による) (2) 21人 年齢分布💬 |
30 | 遠位型ミオパチー [神] 💬 "Distal myopathy", "Distal muscular dystrophy", "Miyoshi myopathy", "Distal dysferlinopathy", "Distal myopathy with rimmed vacuoles", "DMRV/GNE myopathy", "Oculopharyngodistal myopathy" | 15 15 trials 1 / 5 / 12 / 0 💬 | 17 17 drugs [ 3 3 drugs ] | 1 1 gene 1 pathway | 294 (1) 400人(研究班による) (2) 294人 年齢分布💬 |
31 | ベスレムミオパチー [神] 💬 "Bethlem myopathy", "Beth Rem myopathy" | 0 - | 0 - | 0 - | 19 (1) 100人未満(研究班による) (2) 19人 年齢分布💬 |
32 | 自己貪食空胞性ミオパチー [神] 💬 "Autophagic vacuolar myopathy", "Danon disease", "X-linked myopathy with excessive autophagy", "XMEA" | 1 1 trial 1 / 0 / 0 / 0 💬 | 1 1 drug [ 0 - ] | 0 - | 9 (1) 100人未満(研究班による) (2) 9人 年齢分布💬 |
33 | シュワルツ・ヤンペル症候群 [神] 💬 "Schwartz-Jampel syndrome", "Schwarz-Yanperu syndrome", "SJS", "Myotonic chondrodystrophy", "Cartilage dystrophic myotonia", "Schwartz-Jampel syndrome type 1", "SJS type 1", "Schwartz-Jampel syndrome type 2", "SJS type 2", "Stuve-Wiedemann syndrome", "Stüve-Wiedemann syndrome" | 0 - | 0 - | 0 - | 1 (1) 100人未満(研究班による) (2) 1人 年齢分布💬 |
34 | 神経線維腫症 [皮] 💬 "Neurofibromatosis", "Neurofibromatosis type I", "NF1", "von Recklinghausen disease", "Neurofibromatosis type II", "NF2" | 137 137 trials 56 / 88 / 14 / 8 💬 | 213 213 drugs [ 76 76 drugs ] | 87 87 genes 200 pathways | 4056 (1) 3,588人 (2) 4,056人 年齢分布💬 |
35 | 天疱瘡 [皮] 💬 "Pemphigus", "Pemphigus vulgaris", "Pemphigus foliaceus", "Pemphigus erythematosus", "Herpetiform pemphigus", "Drug-induced pemphigus", "DIP", "Paraneoplastic pemphigus", "PNP" | 98 98 trials 44 / 36 / 47 / 7 💬 | 126 126 drugs [ 41 41 drugs ] | 23 23 genes 168 pathways | 3236 (1) 約6,000人 (2) 3,236人 年齢分布💬 |
36 | 表皮水疱症 [皮] 💬 "Epidermolysis bullosa", "Epidermolysis bullosa simplex", "EBS", "Junctional epidermolysis bullosa", "JEB", "Junctional epidermolysis bullosa type Herlitz", "JEB-H", "Junctional epidermolysis bullosa type non-Herlitz", "JEB-nH", "Dominant dystrophic epidermolysis bullosa", "DDEB", "Dystrophic epidermolysis bullosa", "DEB", "Epidermolysis bullosa dystrophica", "Recessive dystrophic epidermolysis bullosa", "RDEB", "Kindler syndrome" | 160 160 trials 114 / 95 / 53 / 16 💬 | 195 195 drugs [ 47 47 drugs ] | 50 50 genes 124 pathways | 290 (1) 347人 (2) 290人 年齢分布💬 |
37 | 膿疱性乾癬(汎発型) [皮] 💬 "Generalised pustular psoriasis", "Pustular psoriasis", "Acute generalised pustular psoriasis, von Zumbusch type", "Herpetic impetigo", "Generalization of acrodermatitis continua", "Generalization of dermatitis continua of the extremities", "Infantile generalized pustular psoriasis", "Pediatric generalized pustular psoriasis" | 74 74 trials 31 / 30 / 38 / 9 💬 | 53 53 drugs [ 20 20 drugs ] | 20 20 genes 101 pathways | 2070 (1) 2,072人 (2) 2,070人 年齢分布💬 |
38 | スティーヴンス・ジョンソン症候群 [皮] 💬 "Stevens-Johnson syndrome", "SJS", "Mucocutaneous ocular syndrome" | 13 13 trials 10 / 9 / 4 / 2 💬 | 23 23 drugs [ 9 9 drugs ] | 15 15 genes 101 pathways | 169 (1) 約1,500人 (2) 169人 年齢分布💬 |
39 | 中毒性表皮壊死症 [皮] 💬 "Toxic epidermal necrolysis", "Toxic epidermal necrosis", "TEN" | 13 13 trials 5 / 8 / 2 / 1 💬 | 19 19 drugs [ 8 8 drugs ] | 11 11 genes 103 pathways | 70 (1) 約200人 (2) 70人 年齢分布💬 |
40 | 高安動脈炎 [免] 💬 "Takayasu arteritis", "Aortitis syndrome", "Pulseless disease" | 25 25 trials 1 / 4 / 8 / 3 💬 | 50 50 drugs [ 21 21 drugs ] | 25 25 genes 114 pathways | 4587 (1) 約7,000人 (2) 4,587人 年齢分布💬 |
41 | 巨細胞性動脈炎 [免] 💬 "Giant cell arteritis", "Temporal arteritis" | 128 128 trials 65 / 42 / 77 / 16 💬 | 139 139 drugs [ 36 36 drugs ] | 33 33 genes 124 pathways | 2066 (1) 約700人(研究班による) (2) 2,066人 年齢分布💬 |
42 | 結節性多発動脈炎 [免] 💬 "Polyarteritis nodosa", "PAN" | 14 14 trials 0 / 5 / 6 / 2 💬 | 27 27 drugs [ 16 16 drugs ] | 26 26 genes 104 pathways | 2186 (1) 9,610人(顕微鏡的多発血管炎との合計) (2) 2,186人 年齢分布💬 |
43 | 顕微鏡的多発血管炎 [免] 💬 "Microscopic polyangiitis", "MPA" | 87 87 trials 61 / 41 / 41 / 22 💬 | 84 84 drugs [ 20 20 drugs ] | 15 15 genes 88 pathways | 10626 (1) 9,610人(結節性多発動脈炎との合計) (2) 10,626人 年齢分布💬 |
44 | 多発血管炎性肉芽腫症 [免] 💬 "Wegener granulomatosis", "Multiple vasculitis granulomatous disease", "Granulomatosis with polyangiitis" | 92 92 trials 66 / 37 / 50 / 22 💬 | 106 106 drugs [ 27 27 drugs ] | 22 22 genes 78 pathways | 3223 (1) 1,942人 (2) 3,223人 年齢分布💬 |
45 | 好酸球性多発血管炎性肉芽腫症 [免] 💬 "Eosinophilic granulomatosis with Polyangiitis", "EGPA", "Eosinophilic multiple vasculitis granulomatous disease", "Allergic granulomatous angiitis", "AGA", "Churg-Strauss syndrome", "CSS" | 28 28 trials 8 / 7 / 13 / 5 💬 | 42 42 drugs [ 18 18 drugs ] | 18 18 genes 100 pathways | 5839 (1) 約1,800人(研究班による) (2) 5,839人 年齢分布💬 |
46 | 悪性関節リウマチ [免] 💬 "Malignant rheumatoid arthritis", "MRA", "Rheumatoid vasculitis", "RV", "Rheumatoid arthritis", "RA", "Systemic rheumatoid vasculitis", "SRV", "Malignant rheumatoid arthritis with peripheral arteritis" | 4,325 4,325 trials 1377 / 993 / 1220 / 660 💬 | 2,671 2,671 drugs [ 417 417 drugs ] | 187 187 genes 224 pathways | 5075 (1) 6,255人 (2) 5,075人 年齢分布💬 |
47 | バージャー病 [免] 💬 "Buerger disease", "Thromboangiitis obliterans" | 9 9 trials 0 / 3 / 0 / 0 💬 | 13 13 drugs [ 7 7 drugs ] | 6 6 genes 15 pathways | 1858 (1) 7,109人 (2) 1,858人 年齢分布💬 |
48 | 原発性抗リン脂質抗体症候群 [免] 💬 "Primary antiphospholipid syndrome", "Primary antiphospholipid antibody syndrome", "Primary APS", "PAPS" | 4 4 trials 0 / 1 / 1 / 0 💬 | 5 5 drugs [ 3 3 drugs ] | 0 - | 892 (1) 約10,000人(研究班による) (2) 892人 年齢分布💬 |
49 | 全身性エリテマトーデス [免] 💬 "Systemic lupus erythematosus", "SLE" | 946 946 trials 437 / 391 / 263 / 114 💬 | 722 722 drugs [ 186 186 drugs ] | 117 117 genes 199 pathways | 64304 (1) 60,122人 (2) 64,304人 年齢分布💬 |
50 | 皮膚筋炎/多発性筋炎 [免] 💬 "Dermatomyositis", "Polymyositis" | 182 182 trials 64 / 77 / 58 / 17 💬 | 229 229 drugs [ 88 88 drugs ] | 48 48 genes 147 pathways | 25259 (1) 約19,500人 (2) 25,259人 年齢分布💬 |
51 | 全身性強皮症 [皮] 💬 "Scleroderma", "Systemic sclerosis", "SSc", "Diffuse cutaneous SSc", "dcSSc", "Limited cutaneous SSc", "lcSSc" | 523 523 trials 282 / 255 / 152 / 66 💬 | 608 608 drugs [ 156 156 drugs ] | 114 114 genes 215 pathways | 26851 (1) 最新の患者数は不明であるが、約2万人程度と推定される。 (2) 26,851人 年齢分布💬 |
52 | 混合性結合組織病 [皮] 💬 [免] 💬 "Mixed connective tissue disease" | 8 8 trials 0 / 5 / 1 / 0 💬 | 7 7 drugs [ 3 3 drugs ] | 1 1 gene 1 pathway | 10009 (1) 11,005人 (2) 10,009人 年齢分布💬 |
53 | シェーグレン症候群 [免] 💬 "Sjogren syndrome", "Sjögren syndrome", "Syndrome Sjogren's", "SS", "Autoimmune exocrinopathy", "Primary Sjogren syndrome", "Primary Sjögren syndrome", "pSS", "Secondary Sjogren syndrome", "Secondary Sjögren syndrome", "sSS" | 283 283 trials 82 / 179 / 34 / 29 💬 | 320 320 drugs [ 101 101 drugs ] | 56 56 genes 181 pathways | 18118 (1) 約66,300人(研究班による) (2) 18,118人 年齢分布💬 |
54 | 成人スチル病 [免] 💬 "Adult still disease", "Adult-onset Stills disease" | 2 2 trials 0 / 0 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 1 1 gene 12 pathways | 4206 (1) 約4,800人(研究班による) (2) 4,206人 年齢分布💬 |
55 | 再発性多発軟骨炎 [免] 💬 "Relapsing polychondritis" | 7 7 trials 1 / 3 / 0 / 0 💬 | 10 10 drugs [ 9 9 drugs ] | 12 12 genes 100 pathways | 936 (1) 約500人(研究班による) (2) 936人 年齢分布💬 |
56 | ベーチェット病 [免] 💬 "Behcet disease", "Behçet disease", "BD", "Complete Behcet disease", "Complete Behçet disease", "CBD", "Incomplete Behcet disease", "Incomplete Behçet disease", "Special-type Behcet disease", "Special-type Behçet disease", "Special-type BD" | 76 76 trials 10 / 20 / 24 / 6 💬 | 110 110 drugs [ 32 32 drugs ] | 36 36 genes 116 pathways | 15122 (1) 20,035人 (2) 15,122人 年齢分布💬 |
57 | 特発性拡張型心筋症 [循] 💬 "Idiopathic dilated cardiomyopathy" | 12 12 trials 3 / 6 / 1 / 3 💬 | 25 25 drugs [ 12 12 drugs ] | 9 9 genes 34 pathways | 18724 (1) 27,968人 (2) 18,724人 年齢分布💬 |
58 | 肥大型心筋症 [循] 💬 "Hypertrophic cardiomyopathy", "HCM", "Nonobstructive hypertrophic cardiomyopathy", "Nonobstructive HCM", "Obstructive hypertrophic cardiomyopathy", "Obstructive HCM", "OHCM", "Hypertrophic obstructive cardiomyopathy", "HOCM", "Mid-ventricular obstructive hypertrophic cardiomyopathy", "MVOHCM", "Mid-ventricular hypertrophic obstructive cardiomyopathy", "MVHOCM", "Apical hypertrophic cardiomyopathy", "APH", "Expansion phase hypertrophic cardiomyopathy" | 119 119 trials 27 / 52 / 34 / 14 💬 | 163 163 drugs [ 45 45 drugs ] | 48 48 genes 161 pathways | 4201 (1) 4,667人 (2) 4,201人 年齢分布💬 |
59 | 拘束型心筋症 [循] 💬 "Restricted cardiomyopathy", "Restrictive cardiomyopathy", "Constrictive cardiomyopathy" | 0 - | 0 - | 0 - | 60 (1) 50人 (2) 60人 年齢分布💬 |
60 | 再生不良性貧血 [血] 💬 "Aplastic anemia", "Idiopathic aplastic anemia", "Secondary aplastic anemia", "Special-type aplastic anemia", "Congenital aplastic anemia" | 235 235 trials 55 / 143 / 30 / 16 💬 | 381 381 drugs [ 83 83 drugs ] | 44 44 genes 160 pathways | 8348 (1) 10,287人 (2) 8,348人 年齢分布💬 |
61 | 自己免疫性溶血性貧血 [血] 💬 "Autoimmune hemolytic anemia", "AIHA", "Warm AIHA", "WAIHA", "Cold agglutinin disease", "CAD", "Paroxysmal cold hemoglobinuria", "Mixed AIHA", "MAIHA", "Evans syndrome" | 137 137 trials 27 / 69 / 61 / 5 💬 | 127 127 drugs [ 55 55 drugs ] | 26 26 genes 153 pathways | 1178 (1) 約2,600人 (2) 1,178人 年齢分布💬 |
62 | 発作性夜間ヘモグロビン尿症 [血] 💬 "Paroxysmal nocturnal hemoglobinuria", "PNH", "Classic paroxysmal nocturnal hemoglobinuria", "Classic PNH", "Paroxysmal nocturnal hemoglobinuria, bone marrow failure type", "Paroxysmal nocturnal hemoglobinuria, mixed type" | 271 271 trials 125 / 106 / 157 / 27 💬 | 163 163 drugs [ 49 49 drugs ] | 22 22 genes 106 pathways | 959 (1) 約400人 (2) 959人 年齢分布💬 |
63 | 特発性血小板減少性紫斑病 [血] 💬 "Idiopathic thrombocytopenic purpura", "Primary immune thrombocytopenia" | 363 363 trials 144 / 82 / 175 / 53 💬 | 212 212 drugs [ 43 43 drugs ] | 47 47 genes 138 pathways | 16972 (1) 24,956人 (2) 16,972人 年齢分布💬 |
64 | 血栓性血小板減少性紫斑病 [血] 💬 "Thrombotic thrombocytopenic purpura", "TTP", "Upshaw-Schulman syndrome", "USS", "Acquired TTP", "Congenital TTP" | 86 86 trials 29 / 28 / 46 / 8 💬 | 81 81 drugs [ 20 20 drugs ] | 16 16 genes 63 pathways | 361 (1) 年間約500人発症(推計) (2) 361人 年齢分布💬 |
65 | 原発性免疫不全症候群 [血] 💬 "Primary immunodeficiency", "X-linked severe combined immunodeficiency", "X-SCID", "Reticular dysgenesis", "Adenosine deaminase deficiency", "Omenn syndrome", "Purine nucleoside phosphorylase deficiency", "CD8 deficiency", "ZAP-70 deficiency", "MHC class I deficiency", "MHC class II deficiency", "Combined immunodeficiency", "Wiskott-Aldrich syndrome", "WAS", "Ataxia telangiectasia", "Nijmegen breakage syndrome", "Bloom syndrome", "Immunodeficiency, centromere region instability, facial anomalies syndrome", "ICF syndrome", "PMS2 deficiency", "Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome", "RIDDLE syndrome", "Schimke syndrome", "Netherton syndrome", "Thymic hypoplasia", "DiGeorge syndrome", "22q11.2 deletion syndrome", "Hyper-IgE syndrome", "Hepatic venoocclusive immunodeficiency", "Immunodeficiency with central hepatic vein atresia", "Dyskeratosis congenita", "X-linked agammaglobulinaemia", "Common variable immunodeficiency", "Hyper-IgM syndrome", "Isolated IgG subclass deficiency", "Selective IgA deficiency", "Specific antibody production deficiency", "Infant transient hypogammaglobulinemia", "Chédiak-Higashi syndrome", "Chediak-Higashi syndrome", "X-linked lymphoproliferative syndrome", "SAP deficiency", "SH2D1A/SLAM-associated protein deficiency", "XIAP deficiency", "X-linked inhibitor of apoptosis deficiency", "Autoimmune lymphoproliferative syndrome", "ALPS", "Familial hemophagocytic syndrome", "Perforin deficiency", "Munc13-4 deficiency", "Syntaxin 11 deficiency", "Munc18-2 deficiency", "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy", "APECED", "Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome", "IPEX syndrome", "CD25 deficiency", "ITCH deficiency", "Primary phagocytic dysfunction", "Severe congenital neutropenia", "Cyclic neutropenia", "Hermanskyi-Pudlak syndrome type 2", "Hermanskyi-Pudlak syndrome 2", "Griscelli syndrome type 2", "Griscelli syndrome 2", "p14 deficiency", "Warts, hypogammaglobulinemia, infections, myelokathexis syndrome", "WHIM syndrome", "Glycogen storage disease type Ib", "Leukocyte adhesion deficiency", "Shwachman-Diamond syndrome", "Chronic granulomatous disease", "Myeloperoxidase deficiency", "Mendelian susceptibility to mycobacterial disease", "MSMD", "Anhidrotic ectodermal dysplasia with immunodeficiency", "EDA-ID", "Interleukin-1 receptor-associated kinase-4 deficiency", "IRAK4 deficiency", "MyD88 deficiency", "Chronic mucocutaneous candidiasis", "Epidermodysplasia verruciformis", "Herpes simplex encephalitis", "Caspase recruitment domain family member 9 deficiency", "CARD9 deficiency", "Trypanosomiasis", "Congenital complement deficiency", "C1q deficiency", "C1r deficiency", "C1s deficiency", "C2 deficiency", "C3 deficiency", "C4 deficiency", "C5 deficiency", "C6 deficiency", "C7 deficiency", "C8 deficiency", "C9 deficiency", "Factor D deficiency", "Properdin deficiency", "Factor I deficiency", "Factor H deficiency", "MASP1 deficiency", "3MC syndrome", "Mannose-binding protein-associated serine protease 2 deficiency", "MASP2 deficiency", "Immunodeficiency associated with FCN3 mutation", "FCN3", "Hereditary angioedema type 1", "Hereditary angioedema type I", "C1 inhibitor deficiency type 1", "C1 inhibitor deficiency type I", "Hereditary angioedema type 2", "Hereditary angioedema type II", "C1 inhibitor deficiency type 2", "C1 inhibitor deficiency type II", "Hereditary angioedema type 3", "Hereditary angioedema type III", "C1 inhibitor deficiency type 3", "C1 inhibitor deficiency type III" | 482 482 trials 203 / 202 / 161 / 59 💬 | 653 653 drugs [ 119 119 drugs ] | 92 92 genes 212 pathways | 1964 (1) 1,383人 (2) 1,964人 年齢分布💬 |
66 | IgA腎症 [腎] 💬 "IgA nephropathy", "IgA nephritis", "Berger disease", "IgA-IgG nephropathy" | 255 255 trials 33 / 81 / 93 / 30 💬 | 255 255 drugs [ 79 79 drugs ] | 35 35 genes 137 pathways | 12447 (1) 約33,000人(研究班による) (2) 12,447人 年齢分布💬 |
67 | 多発性嚢胞腎 [腎] 💬 "Polycystic kidney disease", "PKD", "PCKD", "Polycystic kidney", "Autosomal dominant PKD", "ADPKD", "Autosomal recessive PKD", "ARPKD" | 216 216 trials 94 / 77 / 108 / 27 💬 | 219 219 drugs [ 50 50 drugs ] | 39 39 genes 151 pathways | 12164 (1) 約31,000人(研究班による) (2) 12,164人 年齢分布💬 |
68 | 黄色靱帯骨化症 [骨] 💬 "Ossification of the ligamentum flavum", "Ossification of ligamentum flavum", "OLF" | 2 2 trials 0 / 0 / 0 / 0 💬 | 4 4 drugs [ 4 4 drugs ] | 1 1 gene 3 pathways | 6104 (1) 2,360人 (2) 6,104人 年齢分布💬 |
69 | 後縦靱帯骨化症 [骨] 💬 "Ossification of posterior longitudinal ligament" | 1 1 trial 0 / 0 / 0 / 0 💬 | 2 2 drugs [ 3 3 drugs ] | 0 - | 32406 (1) 33,346人 (2) 32,406人 年齢分布💬 |
70 | 広範脊柱管狭窄症 [骨] 💬 "Spinal stenosis", "Extensive spinal canal stenosis" | 96 96 trials 13 / 13 / 8 / 27 💬 | 203 203 drugs [ 60 60 drugs ] | 66 66 genes 89 pathways | 5000 (1) 5,944人 (2) 5,000人 年齢分布💬 |
71 | 特発性大腿骨頭壊死症 [骨] 💬 "Idiopathic osteonecrosis of the femoral head", "Idiopathic femoral head necrosis" | 3 3 trials 0 / 1 / 0 / 0 💬 | 5 5 drugs [ 4 4 drugs ] | 4 4 genes 11 pathways | 18817 (1) 15,388人 (2) 18,817人 年齢分布💬 |
72 | 下垂体性ADH分泌異常症 [内] 💬 "Pituitary ADH secretion disorder", "Inappropriate antidiuretic hormone secretion", "Syndrome of inappropriate secretion of antidiuretic hormone", "Inappropriate ADH syndrome", "Syndrome of inappropriate ADH", "Central diabetes insipidus", "Syndrome of inappropriate secretion of ADH", "SIADH" | 40 40 trials 2 / 8 / 15 / 3 💬 | 28 28 drugs [ 7 7 drugs ] | 5 5 genes 9 pathways | 3701 (1) [告示番号72-78計]17,069人 (2) 3,701人 年齢分布💬 |
73 | 下垂体性TSH分泌亢進症 [内] 💬 "TSH-secreting pituitary adenoma", "Pituitary TSH secretion hyperthyroidism" | 1 1 trial 0 / 0 / 1 / 0 💬 | 3 3 drugs [ 2 2 drugs ] | 0 - | 173 (1) [告示番号72-78計]17,069人 (2) 173人 年齢分布💬 |
74 | 下垂体性PRL分泌亢進症 [内] 💬 "Prolactin secreting pituitary adenoma", "Pituitary PRL secretion hyperthyroidism", "Prolactinoma", "Prolactin secreting adenoma" | 18 18 trials 3 / 6 / 1 / 1 💬 | 33 33 drugs [ 10 10 drugs ] | 16 16 genes 65 pathways | 2177 (1) [告示番号72-78計]17,069人 (2) 2,177人 年齢分布💬 |
75 | クッシング病 [内] 💬 "Cushing disease", "Cushing" | 203 203 trials 130 / 82 / 89 / 40 💬 | 191 191 drugs [ 51 51 drugs ] | 62 62 genes 128 pathways | 911 (1) [告示番号72-78計]17,069人 (2) 911人 年齢分布💬 |
76 | 下垂体性ゴナドトロピン分泌亢進症 [内] 💬 "Pituitary gonadotropin secretion hyperthyroidism", "Gonadotropin secreting pituitary adenoma", "Central precocious puberty", "Gonadotropin producing pituitary adenoma" | 28 28 trials 0 / 0 / 11 / 7 💬 | 46 46 drugs [ 14 14 drugs ] | 6 6 genes 19 pathways | 36 (1) [告示番号72-78計]17,069人 (2) 36人 年齢分布💬 |
77 | 下垂体性成長ホルモン分泌亢進症 [内] 💬 "Growth hormone secreting pituitary adenoma", "Pituitary growth hormone secretion hyperthyroidism" | 1 1 trial 0 / 0 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 2 2 genes 20 pathways | 4388 (1) [告示番号72-78計]17,069人 (2) 4,388人 年齢分布💬 |
78 | 下垂体前葉機能低下症 [内] 💬 "Hypopituitarism", "Anterior pituitary hypothyroidism", "Syndrome of abnormal secretion of gonadotropin", "Hyposecretion of gonadotropins", "Adrenocorticotropic hormone deficiency", "ACTH deficiency", "Thyroid-stimulating hormone deficiency", "TSH deficiency", "Growth hormone deficiency", "GH deficiency", "GHD", "Childhood GHD", "Childhood-onset GHD", "CGHD", "Adult GHD", "Adult-onset GHD", "AGHD", "Prolactin deficiency", "PRL deficiency" | 494 494 trials 140 / 108 / 157 / 67 💬 | 385 385 drugs [ 49 49 drugs ] | 44 44 genes 100 pathways | 19006 (1) [告示番号72-78計]17,069人 (2) 19,006人 年齢分布💬 |
79 | 家族性高コレステロール血症(ホモ接合体) [代] 💬 "Homozygous familial hypercholesterolemia" | 142 142 trials 61 / 43 / 93 / 12 💬 | 114 114 drugs [ 29 29 drugs ] | 9 9 genes 18 pathways | 371 (1) 140人 (2) 371人 年齢分布💬 |
80 | 甲状腺ホルモン不応症 [内] 💬 "Resistance to thyroid hormone", "Syndrome of resistance to thyroid hormone", "Thyroid hormone insensitivity syndrome", "Refetoff syndrome", "RTH" | 1 1 trial 1 / 0 / 0 / 0 💬 | 6 6 drugs [ 3 3 drugs ] | 3 3 genes 3 pathways | 45 (1) 約3,000人(研究班による) (2) 45人 年齢分布💬 |
81 | 先天性副腎皮質酵素欠損症 [内] 💬 "Congenital adrenal hyperplasia", "CAH", "Congenital adrenal enzyme deficiency", "Congenial adrenal cortex enzyme deficiency", "Congenital Lipoid Adrenal Hyperplasia", "3β-Hydroxysteroid Dehydrogenase Deficiency", "21-Hydroxylase deficiency", "21-OHD", "11β-Hydroxylase deficiency", "17α-Hydroxylase deficiency", "P450 oxidoreductase deficiency", "Aldosterone synthase deficiency" | 88 88 trials 30 / 41 / 38 / 6 💬 | 90 90 drugs [ 23 23 drugs ] | 12 12 genes 68 pathways | 945 (1) 約1,800人 (2) 945人 年齢分布💬 |
82 | 先天性副腎低形成症 [内] 💬 "Congenital adrenal hypoplasia", "X-linked congenital adrenal hypoplasia", "DAX-1 deficiency", "Congenital adrenal hypoplasia, autosomal recessive form", "Steroidogenic factor-1 deficiency", "SF-1 deficiency", "SF-1/Ad4BP deficiency", "IMAGe syndrome" | 0 - | 0 - | 0 - | 52 (1) 約1,000人 (2) 52人 年齢分布💬 |
83 | アジソン病 [内] 💬 "Addison disease", "Primary chronic adrenocortical insufficiency", "Autoimmune polyglandular syndrome", "Hypoparathyroidism-Addison-Monilia syndrome", "HAM syndrome", "Schmidt syndrome" | 20 20 trials 6 / 4 / 3 / 5 💬 | 43 43 drugs [ 13 13 drugs ] | 6 6 genes 18 pathways | 327 (1) 約1,000人(研究班による) (2) 327人 年齢分布💬 |
84 | サルコイドーシス [呼] 💬 "Sarcoidosis" | 149 149 trials 53 / 64 / 30 / 26 💬 | 227 227 drugs [ 81 81 drugs ] | 82 82 genes 167 pathways | 15655 (1) 26,763人 (2) 15,655人 年齢分布💬 |
85 | 特発性間質性肺炎 [呼] 💬 "Idiopathic interstitial pneumonia", "IIPs", "Idiopathic pulmonary fibrosis", "IPF", "Usual interstitial pneumonia", "UIP", "Non-specific interstitial pneumonia", "NSIP", "Acute interstitial pneumonia", "AIP", "Diffuse alveolar damage", "DAD", "Cryptogenic organizing pneumonia", "COP", "Organizing pneumonia", "OP", "Desquamative interstitial pneumonia", "DIP", "Respiratory bronchiolitis - associated interstitial lung disease", "RB-ILD", "Lymphocytic interstitial pneumonia", "LIP" | 598 598 trials 211 / 235 / 160 / 60 💬 | 435 435 drugs [ 116 116 drugs ] | 100 100 genes 210 pathways | 17665 (1) 約 15,000人以上(平成26年度医療受給者証保持者数;8,846人) (2) 17,665人 年齢分布💬 |
86 | 肺動脈性肺高血圧症 [呼] 💬 "Pulmonary arterial hypertension", "PAH", "IPAH", "HPAH", "Eisenmenger syndrome" | 1,181 1,181 trials 419 / 302 / 467 / 174 💬 | 701 701 drugs [ 126 126 drugs ] | 105 105 genes 192 pathways | 4319 (1) 2,299人 (2) 4,319人 年齢分布💬 |
87 | 肺静脈閉塞症/肺毛細血管腫症 [呼] 💬 "Pulmonary veno-occlusive disease", "Pulmonary capillary hemangiomatosis", "PVOD", "PCH" | 3 3 trials 1 / 1 / 0 / 0 💬 | 4 4 drugs [ 3 3 drugs ] | 4 4 genes 45 pathways | 24 (1) 約100人 (2) 24人 年齢分布💬 |
88 | 慢性血栓塞栓性肺高血圧症 [呼] 💬 "Chronic thromboembolic pulmonary hypertension", "CTEPH", "Idiopathic chronic pulmonary thromboembolism" | 159 159 trials 82 / 51 / 70 / 19 💬 | 118 118 drugs [ 23 23 drugs ] | 13 13 genes 53 pathways | 4843 (1) 1,810人 (2) 4,843人 年齢分布💬 |
89 | リンパ脈管筋腫症 [呼] 💬 "Lymphangioleiomyomatosis", "LAM", "Sporadic lymphangioleiomyomatosis", "Sporadic LAM", "Lymphangioleiomyomatosis with tuberous sclerosis", "TSC-LAM" | 39 39 trials 15 / 18 / 8 / 2 💬 | 46 46 drugs [ 20 20 drugs ] | 27 27 genes 137 pathways | 912 (1) 689人 (2) 912人 年齢分布💬 |
90 | 網膜色素変性症 [視] 💬 "Retinitis pigmentosa", "Rod dystrophy", "Cone-rod dystrophy", "Rod-Cone Dystrophy" | 130 130 trials 98 / 71 / 39 / 10 💬 | 180 180 drugs [ 41 41 drugs ] | 49 49 genes 109 pathways | 22223 (1) 27,158人 (2) 22,223人 年齢分布💬 |
91 | バッド・キアリ症候群 [消] 💬 "Budd-Chiari syndrome", "BCS", "Primary Budd-Chiari syndrome", "Secondary Budd-Chiari syndrome" | 4 4 trials 0 / 0 / 0 / 1 💬 | 5 5 drugs [ 4 4 drugs ] | 4 4 genes 14 pathways | 218 (1) 293人 (2) 218人 年齢分布💬 |
92 | 特発性門脈圧亢進症 [消] 💬 "Idiopathic portal hypertension", "Banti syndrome" | 0 - | 0 - | 0 - | 301 (1) 約1,000人 (2) 301人 年齢分布💬 |
93 | 原発性胆汁性胆管炎 [消] 💬 "Primary biliary cholangitis", "Primary biliary cirrhosis", "PBC", "Asymptomatic primary biliary cholangitis", "Asymptomatic rimary biliary cirrhosis", "aPBC", "Symptomatic primary biliary cholangitis", "Symptomatic primary biliary cirrhosis", "sPBC" | 282 282 trials 157 / 132 / 102 / 65 💬 | 245 245 drugs [ 56 56 drugs ] | 35 35 genes 113 pathways | 16996 (1) 19,701人 (2) 16,996人 年齢分布💬 |
94 | 原発性硬化性胆管炎 [消] 💬 "Primary sclerosing cholangitis", "PSC", "Intrahepatic primary sclerosing cholangitis", "Intrahepatic PSC", "Extrahepatic primary sclerosing cholangitis", "Extrahepatic PSC", "Intrahepatic and extrahepatic primary sclerosing cholangitis", "Intrahepatic and extrahepatic PSC" | 142 142 trials 68 / 61 / 51 / 10 💬 | 113 113 drugs [ 37 37 drugs ] | 19 19 genes 139 pathways | 1022 (1) 約400人 (2) 1,022人 年齢分布💬 |
95 | 自己免疫性肝炎 [消] 💬 "Autoimmune hepatitis" | 52 52 trials 11 / 24 / 11 / 10 💬 | 68 68 drugs [ 28 28 drugs ] | 19 19 genes 112 pathways | 6884 (1) 約10,000人 (2) 6,884人 年齢分布💬 |
96 | クローン病 [消] 💬 "Crohn disease", "Terminal ileitis" | 2,400 2,400 trials 987 / 753 / 974 / 346 💬 | 1,391 1,391 drugs [ 267 267 drugs ] | 170 170 genes 215 pathways | 48320 (1) 36,418人 (2) 48,320人 年齢分布💬 |
97 | 潰瘍性大腸炎 [消] 💬 "Ulcerative colitis" | 2,527 2,527 trials 1020 / 924 / 1049 / 306 💬 | 1,465 1,465 drugs [ 259 259 drugs ] | 144 144 genes 202 pathways | 138079 (1) 143,733人 (2) 138,079人 年齢分布💬 |
98 | 好酸球性消化管疾患 [消] 💬 "Eosinophilic gastrointestinal disease", "Eosinophilic gastroenteritis", "Eosinophilic esophagitis", "Eosinophilic colitis", "Eosinophilic gastro-intestinal disorder", "EGID", "Neonatal food-protein induced enterocolitis", "Neonatal Food-protein induced enterocolitis syndrome", "N-FPIES" | 171 171 trials 46 / 62 / 85 / 15 💬 | 184 184 drugs [ 47 47 drugs ] | 42 42 genes 141 pathways | 1184 (1) 約5,000人(研究班による) (2) 1,184人 年齢分布💬 |
99 | 慢性特発性偽性腸閉塞症 [消] 💬 "Chronic intestinal pseudo-obstruction", "Chronic idiopathic pseudo-bowel obstruction", "Chronic Idiopathic Intestinal Pseudo-Obstruction", "CIIP" | 4 4 trials 0 / 4 / 0 / 0 💬 | 9 9 drugs [ 2 2 drugs ] | 1 1 gene 4 pathways | 186 (1) 小児例100人、成人例1,300人 (2) 186人 年齢分布💬 |
100 | 巨大膀胱短小結腸腸管蠕動不全症 [消] 💬 "Megacystis microcolon intestinal hypoperistalsis syndrome", "MMIHS", "Huge bladder short and small colon intestinal peristalsis deficiency" | 0 - | 0 - | 0 - | 1 (1) 100人未満(研究班による) (2) 1人 年齢分布💬 |
101 | 腸管神経節細胞僅少症 [消] 💬 "Congenital isolated hypoganglionosis", "Intestinal ganglion cells insignificant disease" | 0 - | 0 - | 0 - | 17 (1) 約100人(研究班による) (2) 17人 年齢分布💬 |
102 | ルビンシュタイン・テイビ症候群 [染] 💬 "Rubinstein-Taybi syndrome", "RSTS", "Histone acetylation disorder" | 3 3 trials 0 / 2 / 0 / 0 💬 | 8 8 drugs [ 1 1 drug ] | 7 7 genes 17 pathways | 7 (1) 約200人(研究班による) (2) 7人 年齢分布💬 |
103 | CFC症候群 [染] 💬 "Cardio-facio-cutaneous syndrome", "CFC syndrome" | 0 - | 0 - | 0 - | 7 (1) 約200人(研究班による。) (2) 7人 年齢分布💬 |
104 | コステロ症候群 [染] 💬 "Costello syndrome" | 0 - | 0 - | 0 - | 10 (1) 約100人(研究班による) (2) 10人 年齢分布💬 |
105 | チャージ症候群 [染] 💬 "CHARGE syndrome" | 0 - | 0 - | 0 - | 25 (1) 約5,000人(研究班による。) (2) 25人 年齢分布💬 |
106 | クリオピリン関連周期熱症候群 [免] 💬 "Cryopyrin-associated periodic syndrome", "Cryopyrin associated periodic fever syndrome", "Familial cold autoinflammatory syndrome", "FCAS", "Mucke-Wells syndrome", "MWS", "Chronic infantile neurologic cutaneous, and articular syndrome", "CINCA syndrome", "Neonatal onset multisystem inflammatory disease", "NOMID" | 42 42 trials 29 / 14 / 13 / 5 💬 | 24 24 drugs [ 4 4 drugs ] | 4 4 genes 48 pathways | 83 (1) 約100人(研究班による) (2) 83人 年齢分布💬 |
107 | 若年性特発性関節炎 [免] 💬 "Juvenile idiopathic arthritis", "JIA", "Systemic juvenile idiopathic arthritis", "Systemic-onset juvenile idiopathic arthritis", "sJIA", "Joint-type juvenile idiopathic arthritis", "Joint-type JIA" | 441 441 trials 181 / 77 / 201 / 68 💬 | 282 282 drugs [ 56 56 drugs ] | 52 52 genes 142 pathways | 918 (1) 約8,000人 (2) 918人 年齢分布💬 |
108 | TNF受容体関連周期性症候群 [免] 💬 "TNF receptor-associated periodic syndrome" | 4 4 trials 5 / 1 / 2 / 1 💬 | 7 7 drugs [ 1 1 drug ] | 1 1 gene 44 pathways | 33 (1) 100人未満(研究班による) (2) 33人 年齢分布💬 |
109 | 非典型溶血性尿毒症症候群 [腎] 💬 "Atypical hemolytic uremic syndrome", "aHUS" | 115 115 trials 80 / 40 / 54 / 19 💬 | 37 37 drugs [ 7 7 drugs ] | 3 3 genes 10 pathways | 78 (1) 200人未満(研究班による) (2) 78人 年齢分布💬 |
110 | ブラウ症候群 [免] 💬 "Blau syndrome", "Early-onset sarcoidosis", "Systemic granulomatous diseases", "Systemic inflammatory granulomatous disease", "Juvenile onset sarcoidosis", "Early-onset childhood sarcoidosis", "Childhood sarcoidosis", "Early onset sarcoidosis", "EOS" | 0 - | 0 - | 0 - | 22 (1) 100人未満(研究班による) (2) 22人 年齢分布💬 |
111 | 先天性ミオパチー [神] 💬 "Congenital myopathy", "Nemaline myopathy", "Central core disease", "Minicore myopathy", "Multi-minicore myopathy", "Myotubular myopathy", "X-linked myotubular myopathy", "XLMTM", "Centronuclear myopathy", "CNM", "Congenital fiber-type disproportion myopathy" | 11 11 trials 12 / 9 / 1 / 2 💬 | 17 17 drugs [ 5 5 drugs ] | 1 1 gene 9 pathways | 351 (1) 約1,000人 (2) 351人 年齢分布💬 |
112 | マリネスコ・シェーグレン症候群 [神] 💬 "Marinesco-Sjogren syndrome", "Hereditary cerebellar ataxia-childhood cataracts" | 0 - | 0 - | 0 - | 5 (1) 100人未満 (2) 5人 年齢分布💬 |
113 | 筋ジストロフィー [神] 💬 "Muscular dystrophy", "Dystrophinopathies", "Duchenne muscular dystrophy", "DMD", "Becker muscular dystrophy", "Limb-girdle muscular dystrophy", "Myotilinopathy", "Laminopathy", "Caveolinopathy", "Limb gridle muscular dystrophy 1C", "LGMD1C", "Desminopathy", "Sarcoglycanopathy", "α-dystroglycanopathy", "Congenital muscular dystrophy", "Facioscapulohumeral muscular dystrophy", "Emery-Dreifuss muscular dystrophy", "Oculopharyngeal muscular dystrophy", "Fukuyama-type congenital muscular dystrophy", "FCMD", "Walker-Warburg syndrome", "Muscle-eye-brain disease", "Myotonic dystrophy", "Integrin α7 deficient CMD", "CIntegrin α7 deficient ongenital muscular dystrophy", "Merosin-deficient congenital muscular dystrophy", "Ullrich congenital muscular dystrophy", "Rigid spine syndrome", "Dynamin 2 deficient congenital muscular dystrophy", "Telesonin-deficient congenital muscular dystrophy", "Congenital muscular dystrophy with mitochondrial structural abnormalities" | 622 622 trials 401 / 271 / 264 / 66 💬 | 485 485 drugs [ 99 99 drugs ] | 59 59 genes 168 pathways | 5246 (1) 約25,400人 (2) 5,246人 年齢分布💬 |
114 | 非ジストロフィー性ミオトニー症候群 [神] 💬 "Non-dystrophic myotonia syndrome", "Non-dystrophic Myotonia", "Myotonia congenita", "Thomsen disease", "Autosomal-dominant myotonia congenita", "Becker disease", "Autosomal-recessive myotonia congenita", "Paramyotonia congenita", "Sodium channel myotonia" | 12 12 trials 1 / 3 / 5 / 0 💬 | 19 19 drugs [ 5 5 drugs ] | 18 18 genes 10 pathways | 23 (1) 約1,000人 (2) 23人 年齢分布💬 |
115 | 遺伝性周期性四肢麻痺 [神] 💬 "Hereditary periodic paralysis", "Hereditary Hypokalemic Periodic Paralysis", "Andersen-Tawil syndrome", "Hereditary Hyperkalemic Periodic Paralysis" | 1 1 trial 1 / 0 / 0 / 0 💬 | 2 2 drugs [ 2 2 drugs ] | 13 13 genes 7 pathways | 60 (1) 約1,000人 (2) 60人 年齢分布💬 |
116 | アトピー性脊髄炎 [神] 💬 "Atopic myelitis", "Idiopathic eosinophilic myelitis" | 0 - | 0 - | 0 - | 47 (1) 約1,000人 (2) 47人 年齢分布💬 |
117 | 脊髄空洞症 [神] 💬 "Syringomyelia", "Symptomatic syringomyelia", "Asymptomatic syringomyelia", "Syringomyelia with Chiari I malformation", "Syringomyelia with Chiari II malformation", "Syringomyelia without Chiari malformation", "Secondary syringomyelia", "Idiopathic syringomyelia" | 3 3 trials 0 / 2 / 0 / 0 💬 | 5 5 drugs [ 1 1 drug ] | 0 - | 602 (1) 約3,000人 (2) 602人 年齢分布💬 |
118 | 脊髄髄膜瘤 [神] 💬 "Myelomeningocele", "Myeloschisis", "Myelocele", "Myelocystocele", "Syringomyelocele" | 10 10 trials 1 / 1 / 0 / 1 💬 | 18 18 drugs [ 7 7 drugs ] | 8 8 genes 12 pathways | 124 (1) 分娩10,000件あたり5.0〜6.0件の発生率。年間500〜600名の患児が出生している。 (2) 124人 年齢分布💬 |
119 | アイザックス症候群 [神] 💬 "Isaacs syndrome", "Morvan syndrome", "Morvan fibrillary chorea", "Anti-VGKC antibody-associated limbic encephalitis" | 0 - | 0 - | 0 - | 108 (1) 約100人 (2) 108人 年齢分布💬 |
120 | 遺伝性ジストニア [神] 💬 "Hereditary dystonia", "DYT1 dystonia", "DYT2 dystonia", "DYT3 dystonia", "X-linked dystonia-parkinsonism", "Lubag", "DYT4 dystonia", "DYT5 dystonia", "DYT5a dystonia", "DYT5b dystonia", "DYT14 dystonia", "Segawa syndrome", "SS", "Dopa-responsive dystonia", "DRD", "DYT6 dystonia", "DYT7 dystonia", "DYT8 dystonia", "Paroxysmal nonkinesigenic dyskinesia 1", "PNKD1", "DYT9 dystonia", "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity", "Paroxysmal choreoathetosis and episodic ataxia and spasticity", "CSE", "DYT10 dystonia", "Episodic kinesigenic dyskinesia 1", "EKD1", "DYT11 dystonia", "Myoclonus-dystonia syndrome", "MDS", "DYT12 dystonia", "Rapid-onset dystonia-parkinsonism", "RDP", "Alternating hemiplegia of childhood", "AHC", "Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss", "CAPOS", "DYT13 dystonia", "DYT15 dystonia", "DYT16 dystonia", "DYT17 dystonia", "DYT18 dystonia", "Paroxysmal execise-induced dyskinesia", "PED", "DYT19 dystonia", "Episodic kinesigenic dyskinesia 2", "EKD2", "DYT20 dystonia", "Paroxysmal nonkinesigenic dyskinesia 2", "PNKD2", "Neurodegeneration with Brain Iron Accumulation 1", "Pantothenate kinase-associated neurodegeneration", "PKAN", "Classical PKAN", "Atypical PKAN", "NBIA1", "Hallervorden-Spatz syndrome", "Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, pallidal degeneration", "Neurodegeneration with Brain Iron Accumulation 2", "Infantile neuroaxonal dystrophy", "INAD", "Classical INAD", "Atypical INAD", "NBIA2", "Karak syndrome", "Neurodegeneration with Brain Iron Accumulation 3", "Neuroferritinopathy", "NBIA3", "Neurodegeneration with Brain Iron Accumulation 4", "Aceruloplasminemia", "Hereditary ceruloplasmin deficiency", "NBIA4", "Neurodegeneration with Brain Iron Accumulation 5", "NBIA5", "Beta-propeller protein-associated neurodegeneration", "BPAN", "Fatty Acid Hydroxylase-associated neurodegeneration", "FAHN", "Dysmyelinating leukodystrophy and spastic paraparasis with or without dystonia, spastic paraplegia 35" | 25 25 trials 11 / 3 / 17 / 3 💬 | 21 21 drugs [ 4 4 drugs ] | 2 2 genes 2 pathways | 113 (1) 約500人 (2) 113人 年齢分布💬 |
121 | 神経フェリチン症 [神] 💬 "Neuroferritinopathy" | 0 - | 0 - | 0 - | 2 (1) 100人未満 (2) 2人 年齢分布💬 |
122 | 脳表ヘモジデリン沈着症 [神] 💬 "Superficial siderosis", "SS", "Classical superficial siderosis", "Classical SS", "Brain table hemosiderosis" | 4 4 trials 0 / 0 / 0 / 0 💬 | 9 9 drugs [ 3 3 drugs ] | 0 - | 198 (1) 100人未満 (2) 198人 年齢分布💬 |
123 | 禿頭と変形性脊椎症を伴う常染色体劣性白質脳症 [神] 💬 "Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy", "CARASIL", "Cerebral autosomal recessive arteriopathy with baldness and degenerative spondylosis", "Autosomal recessive leukoencephalopathy with baldness and degenerative spondylosis", "Cerebral autosomal recessive arteriopathy", "Autosomal recessive leukoencephalopathy" | 0 - | 0 - | 0 - | 5 (1) 100人未満 (2) 5人 年齢分布💬 |
124 | 皮質下梗塞と白質脳症を伴う常染色体優性脳動脈症 [神] 💬 "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy", "CADASIL", "Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy", "Autosomal dominant cerebral artery disease" | 12 12 trials 11 / 8 / 2 / 2 💬 | 14 14 drugs [ 5 5 drugs ] | 6 6 genes 23 pathways | 187 (1) 約200人 (2) 187人 年齢分布💬 |
125 | 神経軸索スフェロイド形成を伴う遺伝性びまん性白質脳症 [神] 💬 "Hereditary diffuse leukoencephalopathy with spheroid", "HDLS", "Hereditary diffuse leukoencephalopathy" | 1 1 trial 0 / 1 / 0 / 0 💬 | 9 9 drugs [ 1 1 drug ] | 0 - | 65 (1) 100人未満 (2) 65人 年齢分布💬 |
126 | ペリー症候群 [神] 💬 "Perry syndrome" | 0 - | 0 - | 0 - | 5 (1) 100人未満 (2) 5人 年齢分布💬 |
127 | 前頭側頭葉変性症 [神] 💬 "Frontotemporal lobar degeneration", "Frontotemporal dementia", "Semantic dementia" | 89 89 trials 30 / 36 / 29 / 8 💬 | 104 104 drugs [ 33 33 drugs ] | 40 40 genes 117 pathways | 1311 (1) 約12,000人 (2) 1,311人 年齢分布💬 |
128 | ビッカースタッフ脳幹脳炎 [神] 💬 "Bickerstaff brainstem encephalitis" | 0 - | 0 - | 0 - | 77 (1) 発症者は約100人/年 (2) 77人 年齢分布💬 |
129 | 痙攣重積型(二相性)急性脳症 [神] 💬 "Acute encephalopathy with biphasic seizures and late reduced diffusion", "Epilepticus type biphasic acute encphalopathy", "Epilepticus type acute encphalopathy" | 1 1 trial 0 / 1 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 0 - | 46 (1) 約2,000〜7,800人 (罹病率:1年あたり100〜200人) (2) 46人 年齢分布💬 |
130 | 先天性無痛無汗症 [神] 💬 "Congenital insensitivity to pain with anhydrosis", "CIPA", "Hereditary sensory and autonomic neuropathy type IV", "HSAN4", "Hereditary sensory and autonomic neuropathy type V", "HSAN5" | 0 - | 0 - | 0 - | 42 (1) 約200〜300人 (2) 42人 年齢分布💬 |
131 | アレキサンダー病 [神] 💬 "Alexander disease", "ALXDRD", "AxD", "Alexander Disease type 1", "ALXDRD1", "AxD1", "Alexander Disease type 2", "ALXDRD2", "AxD2", "Alexander disease type 3", "ALXDRD3", "AxD3" | 4 4 trials 3 / 3 / 4 / 0 💬 | 4 4 drugs [ 1 1 drug ] | 0 - | 46 (1) 100人未満 (2) 46人 年齢分布💬 |
132 | 先天性核上性球麻痺 [神] 💬 "Congenital supranuclear bulbar palsy", "Congenital suprabulbar paresis", "Worcester drought syndrome", "Worster-Drought syndrome" | 0 - | 0 - | 0 - | 8 (1) 約100人 (2) 8人 年齢分布💬 |
133 | メビウス症候群 [神] 💬 "Moebius syndrome", "Mobius syndrome", "Möbius syndrome" | 0 - | 0 - | 0 - | 13 (1) 約1,000人 (2) 13人 年齢分布💬 |
134 | 中隔視神経形成異常症/ドモルシア症候群 [視] 💬 "Septo-optic dysplasia", "De Morsier syndrome" | 1 1 trial 0 / 0 / 0 / 1 💬 | 1 1 drug [ 0 - ] | 0 - | 13 (1) 約500人 (2) 13人 年齢分布💬 |
135 | アイカルディ症候群 [神] 💬 "Aicardi syndrome" | 1 1 trial 0 / 1 / 0 / 0 💬 | 9 9 drugs [ 3 3 drugs ] | 0 - | 15 (1) 100人未満 (2) 15人 年齢分布💬 |
136 | 片側巨脳症 [神] 💬 "Hemimegalencephaly", "Unilateral megalencephaly" | 0 - | 0 - | 0 - | 24 (1) 100人未満 (2) 24人 年齢分布💬 |
137 | 限局性皮質異形成 [神] 💬 "Focal cortical dysplasia", "FCD", "FCD type 1a", "FCD type 1b", "FCD type 1c", "FCD type 2a", "FCD type 2b", "FCD type 3a", "FCD type 3b", "FCD type 3c", "FCD type 3d" | 9 9 trials 0 / 6 / 0 / 0 💬 | 5 5 drugs [ 3 3 drugs ] | 1 1 gene 51 pathways | 72 (1) 数千人程度 (2) 72人 年齢分布💬 |
138 | 神経細胞移動異常症 [神] 💬 "Nerve cell migration disorder", "Lissencephaly", "Neuronal migration defect", "Classical lissencephaly", "Ectopic gray matter", "Subcortical ectopic gray matter", "Periventricular nodular ectopic gray matter", "Polymicrogyria", "Cortical dysplasia with cobblestone appearance", "Schizencephaly", "Porencephaly", "Miller-Dieker syndrome", "Perisylvian polymicrogyria", "X-linked Lissencephaly" | 0 - | 0 - | 0 - | 60 (1) 約1,000人 (2) 60人 年齢分布💬 |
139 | 先天性大脳白質形成不全症 [神] 💬 "Congenital cerebral hypomyelination", "Congenital cerebral white matter aplasia", "Pelizaeus-Merzbacher disease", "Pelizaeus-Merzbacher-like disease 1", "Pelizaeus-Merzbacher-like disease type 1", "Hypomyelination with atrophy of the basal ganglia and cerebellum", "18q-syndrome", "Chromosome 18q deletion syndrome", "Allan-Herndon-Dudley syndrome", "Mitochondrial Hsp60 chaperonopathy", "Salla disease", "Free sialic acid storage disease", "Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum", "Hypomyelination and congenital cataract", "Ataxia, delayed dentition, and hypomyelination", "Peripheral demyelinating neuropathy", "Central dysmyelinating leukodystrophy", "Waardenburg syndrome", "Hirschsprung disease" | 10 10 trials 1 / 7 / 0 / 0 💬 | 7 7 drugs [ 2 2 drugs ] | 2 2 genes 2 pathways | 38 (1) 約200人 (2) 38人 年齢分布💬 |
140 | ドラベ症候群 [神] 💬 "Dorabe syndrome", "Dravet syndrome" | 104 104 trials 44 / 21 / 74 / 11 💬 | 61 61 drugs [ 14 14 drugs ] | 48 48 genes 63 pathways | 67 (1) 約3,000人 (2) 67人 年齢分布💬 |
141 | 海馬硬化を伴う内側側頭葉てんかん [神] 💬 "Mesial temporal lobe epilepsy with hippocampal sclerosis", "Medial temporal lobe epilepsy with hippocampal sclerosis", "Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis", "Medial temporal lobe epilepsy" | 1 1 trial 1 / 1 / 0 / 0 💬 | 2 2 drugs [ 0 - ] | 0 - | 73 (1) 約5,000人 (2) 73人 年齢分布💬 |
142 | ミオクロニー欠神てんかん [神] 💬 "Myoclonic absence epilepsy" | 0 - | 0 - | 0 - | 4 (1) 100人未満 (2) 4人 年齢分布💬 |
143 | ミオクロニー脱力発作を伴うてんかん [神] 💬 "Epilepsy with myoclonic-atonic seizure", "Epilepsy with myoclonic cataplexy" | 0 - | 0 - | 0 - | 22 (1) 100人未満 (2) 22人 年齢分布💬 |
144 | レノックス・ガストー症候群 [神] 💬 "Lennox-Gastaut syndrome" | 101 101 trials 34 / 14 / 73 / 9 💬 | 68 68 drugs [ 12 12 drugs ] | 49 49 genes 60 pathways | 282 (1) [告示番号144-148計]約4,300人 (2) 282人 年齢分布💬 |
145 | ウエスト症候群 [神] 💬 "West syndrome", "Infantile spasm" | 43 43 trials 16 / 16 / 17 / 9 💬 | 54 54 drugs [ 15 15 drugs ] | 27 27 genes 24 pathways | 229 (1) [告示番号144-148計]約4,300人 (2) 229人 年齢分布💬 |
146 | 大田原症候群 [神] 💬 "Ohtahara syndrome", "Early infantile epileptic encephalopathy with suppression burst" | 0 - | 0 - | 0 - | 20 (1) [告示番号144-148計]約4,300人 (2) 20人 年齢分布💬 |
147 | 早期ミオクロニー脳症 [神] 💬 "Early myoclonic encephalopathy" | 0 - | 0 - | 0 - | 10 (1) [告示番号144-148計]約4,300人 (2) 10人 年齢分布💬 |
148 | 遊走性焦点発作を伴う乳児てんかん [神] 💬 "Epilepsy of infancy with migrating focal seizure", "Infant epilepsy with migratory focus seizure", "Migrating partial seizures in infancy", "Infant epilepsy" | 0 - | 0 - | 0 - | 21 (1) [告示番号144-148計]約4,300人 (2) 21人 年齢分布💬 |
149 | 片側痙攣・片麻痺・てんかん症候群 [神] 💬 "Hemiconvulsion hemiplegia epilepsy syndrome", "One side convulsions", "Hemiplegia", "Epilepsy syndrome" | 25 25 trials 3 / 4 / 8 / 2 💬 | 40 40 drugs [ 14 14 drugs ] | 17 17 genes 20 pathways | 33 (1) 100人未満 (2) 33人 年齢分布💬 |
150 | 環状20番染色体症候群 [神] 💬 "Ring chromosome 20 epilepsy syndrome", "Ring chromosome 20 syndrome" | 0 - | 0 - | 0 - | 15 (1) 100人未満 (2) 15人 年齢分布💬 |
151 | ラスムッセン脳炎 [神] 💬 "Rasmussen encephalitis" | 2 2 trials 0 / 1 / 1 / 0 💬 | 4 4 drugs [ 2 2 drugs ] | 6 6 genes 86 pathways | 46 (1) 100人未満 (2) 46人 年齢分布💬 |
152 | PCDH19関連症候群 [神] 💬 "PCDH19 related syndrome", "PCDH19 Epilepsy", "Epilepsy and mental retardation limited to females", "PCDH19 female pediatric epilepsy", "PCDH19-related epilepsy", "Protocadherin 19 (PCDH19)-related epilepsy" | 10 10 trials 5 / 5 / 5 / 1 💬 | 7 7 drugs [ 1 1 drug ] | 16 16 genes 7 pathways | 13 (1) 100人未満 (2) 13人 年齢分布💬 |
153 | 難治頻回部分発作重積型急性脳炎 [神] 💬 "Acute encephalitis with refractory, repetitive partial seizure", "AERRPS", "Refractory frequent partial seizures intussusception acute encephalitis", "Febrile infection related epilepsy syndrome", "FIRES", "New onset refractory status epilepsy syndrome", "NORSE syndrome" | 0 - | 0 - | 0 - | 55 (1) 約100人 (2) 55人 年齢分布💬 |
154 | 徐波睡眠期持続性棘徐波を示すてんかん性脳症 [神] 💬 "Epilepsy with continuous spikes and waves during slow sleep", "Epileptic encephalopathy with continuous spike-and-wave during sleep" | 5 5 trials 0 / 5 / 0 / 0 💬 | 4 4 drugs [ 3 3 drugs ] | 13 13 genes 7 pathways | 27 (1) [告示番号154-155計]約400人(徐波睡眠期持続性棘徐波を示すてんかん性脳症及びランドウ・クレフナー症候群の総数) (2) 27人 年齢分布💬 |
155 | ランドウ・クレフナー症候群 [神] 💬 "Acquired aphasia with convulsive disorder", "Landau-Kleffner syndrome" | 1 1 trial 0 / 1 / 1 / 0 💬 | 2 2 drugs [ 2 2 drugs ] | 29 29 genes 14 pathways | 8 (1) [告示番号154-155計]約400人(徐波睡眠期持続性棘徐波を示すてんかん性脳症及びランドウ・クレフナー症候群の総数) (2) 8人 年齢分布💬 |
156 | レット症候群 [神] 💬 "Rett syndrome", "Typical Rett syndrome", "Atypical Rett syndrome" | 40 40 trials 3 / 22 / 16 / 0 💬 | 53 53 drugs [ 19 19 drugs ] | 77 77 genes 113 pathways | 98 (1) 約1,000人 (2) 98人 年齢分布💬 |
157 | スタージ・ウェーバー症候群 [神] 💬 "Sturge-Weber syndrome", "Síndrome de Sturge-Weber" | 10 10 trials 3 / 6 / 1 / 1 💬 | 14 14 drugs [ 4 4 drugs ] | 5 5 genes 63 pathways | 77 (1) 約1,000人 (2) 77人 年齢分布💬 |
158 | 結節性硬化症 [神] 💬 "Tuberous sclerosis", "Tuberous sclerosis complex" | 108 108 trials 54 / 40 / 52 / 18 💬 | 67 67 drugs [ 17 17 drugs ] | 35 35 genes 118 pathways | 925 (1) 約4,000〜12,000人 (2) 925人 年齢分布💬 |
159 | 色素性乾皮症 [神] 💬 "Xeroderma pigmentosum", "XP", "XP-A", "XP-B", "XP-C", "XP-D", "XP-E", "XP-F", "XP-G", "XP-V" | 10 10 trials 1 / 7 / 1 / 0 💬 | 18 18 drugs [ 5 5 drugs ] | 5 5 genes 15 pathways | 86 (1) 約300〜600人 (2) 86人 年齢分布💬 |
160 | 先天性魚鱗癬 [皮] 💬 "Congenital ichthyosis", "Keratinopathic ichthyosis", "Epidermolytic ichthyosis", "Superficial epidermolytic ichthyosis", "Harlequin ichthyosis", "Autosomal recessive congenital ichthyosis", "Congenital Ichthyosiform Erythroderma", "Foliate ichthyosis", "Ichthyosis syndrome", "Netherton syndrome", "Sjogren-Larsson syndrome", "Sjögren-Larsson syndrome", "Keratitis-ichtyosis-deafness syndrome", "Dorfman-Chanarin syndrome", "Neutral lipid storage disease", "NLSD", "Multiple sulfatase deficiency", "Austin disease", "Recessive X-linked ichthyosis", "RXLI", "X-linked recessive ichthyosis", "Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature", "IBID", "Trichothiodystrophy", "Follicular ichthyosis", "Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome", "CHILD syndrome", "Conradi-Hunermann-Happle syndrome", "Conradi-Hünermann-Happle syndrome", "CHHS" | 36 36 trials 20 / 17 / 11 / 5 💬 | 72 72 drugs [ 21 21 drugs ] | 18 18 genes 111 pathways | 90 (1) 約200人 (2) 90人 年齢分布💬 |
161 | 家族性良性慢性天疱瘡 [皮] 💬 "Familial benign chronic pemphigus", "Benign familial pemphigus", "Hailey-Hailey disease" | 5 5 trials 2 / 2 / 0 / 0 💬 | 9 9 drugs [ 4 4 drugs ] | 2 2 genes 24 pathways | 57 (1) 約300人 (2) 57人 年齢分布💬 |
162 | 類天疱瘡(後天性表皮水疱症を含む。) [皮] 💬 "Pemphigoid", "Bullous pemphigoid", "BP", "Epidermolysis bullosa acquisita", "Mucous membrane pemphigoid", "MMP", "Cicatricial pemphigoid" | 83 83 trials 24 / 37 / 24 / 8 💬 | 128 128 drugs [ 51 51 drugs ] | 33 33 genes 142 pathways | 3764 (1) 約7,100人(類天疱瘡:約6,850人、後天性表皮水疱症:約250人) (2) 3,764人 年齢分布💬 |
163 | 特発性後天性全身性無汗症 [皮] 💬 "Idiopathic pure sudomotor failure", "Idiopathic acquired systemic anhidrosis", "Acquired idiopathic generalized anhidrosis", "AIGA", "Idiopathic segmental anhidrosis", "IPSF", "Sweat gland failure" | 0 - | 0 - | 0 - | 551 (1) 約100人〜200人 (2) 551人 年齢分布💬 |
164 | 眼皮膚白皮症 [視] 💬 "Oculocutaneous albinism", "Hermansky-Pudlak syndrome", "Chediak-Higashi syndrome", "Chédiak-Higashi syndrome", "Griscelli syndrome", "Non-syndromic oculocutaneous albinism" | 15 15 trials 3 / 9 / 1 / 0 💬 | 57 57 drugs [ 34 34 drugs ] | 35 35 genes 139 pathways | 28 (1) 約5,000人 (2,800〜11,200人) (2) 28人 年齢分布💬 |
165 | 肥厚性皮膚骨膜症 [染] 💬 "Pachydermoperiostosis", "PDP", "Early type pachydermoperiostosis", "Early type PDP", "Incomplete type pachydermoperiostosis", "Incomplete type PDP", "Complete type pachydermoperiostosis", "Complete type PDP" | 0 - | 0 - | 0 - | 19 (1) 100人未満 (2) 19人 年齢分布💬 |
166 | 弾性線維性仮性黄色腫 [皮] 💬 "Pseudoxanthoma elasticum", "PXE" | 15 15 trials 3 / 13 / 2 / 1 💬 | 27 27 drugs [ 5 5 drugs ] | 5 5 genes 28 pathways | 109 (1) 約300人 (2) 109人 年齢分布💬 |
167 | マルファン症候群 [皮] 💬 "Marfan syndrome" | 20 20 trials 15 / 6 / 12 / 4 💬 | 39 39 drugs [ 10 10 drugs ] | 10 10 genes 50 pathways | 1081 (1) 約15,000〜20,000人 (2) 1,081人 年齢分布💬 |
168 | エーラス・ダンロス症候群 [皮] 💬 "Ehlers-Danlos syndrome", "EDS", "Classic EDS", "Classical EDS", "cEDS", "Hypermobile Ehlers-Danlos syndrome", "Hypermobile EDS", "hEDS", "Classical-like Ehlers-Danlos syndrome", "Classical-like EDS", "clEDS", "Vascular Ehlers-Danlos syndrome", "Vascular EDS", "vEDS", "Kyphoscoliosis Ehlers-Danlos syndrome", "Kyphoscoliosis EDS", "kEDS", "Arthrochalasia Ehlers-Danlos syndrome", "Arthrochalasia EDS", "aEDS", "Dermatosparaxis Ehlers-Danlos syndrome", "Dermatosparaxis EDS", "dEDS", "D4ST1-deficient Ehlers-Danlos syndrome", "Dermatan 4-0-sulfotransferase 1-deficient EDS", "D4ST1-deficient EDS", "DDEDS" | 8 8 trials 0 / 1 / 2 / 2 💬 | 17 17 drugs [ 9 9 drugs ] | 9 9 genes 55 pathways | 179 (1) 約20,000人 (2) 179人 年齢分布💬 |
169 | メンケス病 [代] 💬 "Menkes disease" | 7 7 trials 2 / 2 / 1 / 0 💬 | 7 7 drugs [ 4 4 drugs ] | 9 9 genes 14 pathways | 1 (1) 100人未満 (2) 1人 年齢分布💬 |
170 | オクシピタル・ホーン症候群 [皮] 💬 "Occipital horn syndrome" | 2 2 trials 1 / 1 / 1 / 0 💬 | 4 4 drugs [ 3 3 drugs ] | 9 9 genes 14 pathways | 1 (1) 100人未満 (2) 1人 年齢分布💬 |
171 | ウィルソン病 [代] 💬 "Wilson disease", "WD" | 68 68 trials 38 / 23 / 32 / 14 💬 | 79 79 drugs [ 17 17 drugs ] | 3 3 genes 28 pathways | 715 (1) 約3,000人 (2) 715人 年齢分布💬 |
172 | 低ホスファターゼ症 [骨] 💬 "Hypophosphatasia" | 34 34 trials 13 / 20 / 4 / 5 💬 | 19 19 drugs [ 4 4 drugs ] | 3 3 genes 6 pathways | 26 (1) 約100〜200人 (2) 26人 年齢分布💬 |
173 | VATER症候群 [染] 💬 "VATER syndrome", "VATER association", "VACTERL association" | 0 - | 0 - | 0 - | 15 (1) 約500名 (2) 15人 年齢分布💬 |
174 | 那須・ハコラ病 [染] 💬 "Nasu-Hakola disease", "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy", "PLOSL" | 0 - | 0 - | 0 - | 4 (1) 約200人 (2) 4人 年齢分布💬 |
175 | ウィーバー症候群 [染] 💬 "Weaver syndrome" | 0 - | 0 - | 0 - | (1) 100人未満 (2) - |
176 | コフィン・ローリー症候群 [染] 💬 "Coffin-Lowry syndrome" | 0 - | 0 - | 0 - | 5 (1) 数万人に1人 (2) 5人 年齢分布💬 |
177 | ジュベール症候群関連疾患 [神] 💬 "Joubert syndrome related disorder", "Joubert syndrome and related disorder", "Joubert syndrome", "JSRD", "Arima syndrome", "Senior-Loken syndrome", "Senior-Løken syndrome", "COACH syndrome", "Orofaciodigital syndrome" | 1 1 trial 0 / 0 / 0 / 0 💬 | 1 1 drug [ 0 - ] | 0 - | 11 (1) 100人未満 (2) 11人 年齢分布💬 |
178 | モワット・ウィルソン症候群 [染] 💬 "Mowat-Wilson syndrome" | 0 - | 0 - | 0 - | 13 (1) 約1,000人 (2) 13人 年齢分布💬 |
179 | ウィリアムズ症候群 [染] 💬 "Williams syndrome" | 5 5 trials 0 / 0 / 0 / 2 💬 | 14 14 drugs [ 8 8 drugs ] | 9 9 genes 33 pathways | 49 (1) 発生頻度は2万人に1人 (2) 49人 年齢分布💬 |
180 | ATR−X症候群 [染] 💬 "ATR-X syndrome", "Alpha-thalassemia mental retardation syndrome" | 0 - | 0 - | 0 - | 7 (1) 100人未満 (2) 7人 年齢分布💬 |
181 | クルーゾン症候群 [染] 💬 "Crouzon syndrome" | 0 - | 0 - | 0 - | 19 (1) [告示番号181-184計]約900人(クルーゾン症候群、アペール症候群、ファイファー症候群、アントレー・ビクスラー症候群の合計) (2) 19人 年齢分布💬 |
182 | アペール症候群 [染] 💬 "Apert syndrome" | 0 - | 0 - | 0 - | 6 (1) [告示番号181-184計]約900人(クルーゾン症候群、アペール症候群、ファイファー症候群、アントレー・ビクスラー症候群の合計) (2) 6人 年齢分布💬 |
183 | ファイファー症候群 [染] 💬 "Pfeiffer syndrome", "Pfeiffer syndrome type 1", "Pfeiffer syndrome type 2", "Pfeiffer syndrome type 3" | 0 - | 0 - | 0 - | 6 (1) [告示番号181-184計]約900人(クルーゾン症候群、アペール症候群、ファイファー症候群、アントレー・ビクスラー症候群の合計) (2) 6人 年齢分布💬 |
184 | アントレー・ビクスラー症候群 [染] 💬 "Antley-Bixler syndrome" | 0 - | 0 - | 0 - | 3 (1) [告示番号181-184計]約900人(クルーゾン症候群、アペール症候群、ファイファー症候群、アントレー・ビクスラー症候群の合計) (2) 3人 年齢分布💬 |
185 | コフィン・シリス症候群 [染] 💬 "Coffin-Siris syndrome" | 0 - | 0 - | 0 - | 4 (1) 100人未満 (2) 4人 年齢分布💬 |
186 | ロスムンド・トムソン症候群 [染] 💬 "Rothmund-Thomson syndrome", "RAPADILINO syndrome", "Baller-Gerold syndrome" | 1 1 trial 0 / 0 / 0 / 0 💬 | 2 2 drugs [ 1 1 drug ] | 0 - | 3 (1) 100人未満 (2) 3人 年齢分布💬 |
187 | 歌舞伎症候群 [染] 💬 "Kabuki syndrome" | 3 3 trials 1 / 0 / 0 / 0 💬 | 8 8 drugs [ 2 2 drugs ] | 3 3 genes 15 pathways | 14 (1) 約3,000〜4,000人 (2) 14人 年齢分布💬 |
188 | 多脾症候群 [染] 💬 "Polysplenia syndrome" | 0 - | 0 - | 0 - | 54 (1) [告示番号188-189計]約2,000人(無脾症候群及び多脾症候群の合計。) (2) 54人 年齢分布💬 |
189 | 無脾症候群 [染] 💬 "Asplenia syndrome" | 0 - | 0 - | 0 - | 84 (1) [告示番号188-189計]約2,000人(無脾症候群及び多脾症候群の合計。) (2) 84人 年齢分布💬 |
190 | 鰓耳腎症候群 [聴] 💬 "Branchio-oto-renal syndrome", "BOR syndrome" | 0 - | 0 - | 0 - | 8 (1) 約300人 (2) 8人 年齢分布💬 |
191 | ウェルナー症候群 [染] 💬 "Werner syndrome" | 3 3 trials 2 / 1 / 0 / 0 💬 | 4 4 drugs [ 3 3 drugs ] | 1 1 gene 5 pathways | 102 (1) 約2,000人 (2) 102人 年齢分布💬 |
192 | コケイン症候群 [染] 💬 "Cockayne syndrome", "CS" | 4 4 trials 1 / 3 / 0 / 0 💬 | 7 7 drugs [ 3 3 drugs ] | 1 1 gene 51 pathways | 5 (1) 100人未満 (2) 5人 年齢分布💬 |
193 | プラダー・ウィリ症候群 [染] 💬 "Prader-Willi syndrome" | 111 111 trials 32 / 42 / 48 / 13 💬 | 120 120 drugs [ 30 30 drugs ] | 51 51 genes 103 pathways | 172 (1) 約 1,000人 (2) 172人 年齢分布💬 |
194 | ソトス症候群 [染] 💬 "Sotos syndrome" | 0 - | 0 - | 0 - | 17 (1) 約2,500人 (2) 17人 年齢分布💬 |
195 | ヌーナン症候群 [染] 💬 "Noonan syndrome" | 14 14 trials 0 / 3 / 6 / 0 💬 | 15 15 drugs [ 5 5 drugs ] | 2 2 genes 9 pathways | 45 (1) 約600人 (2) 45人 年齢分布💬 |
196 | ヤング・シンプソン症候群 [染] 💬 "Young-Simpson syndrome" | 0 - | 0 - | 0 - | (1) 約100人 (2) - |
197 | 1p36欠失症候群 [染] 💬 "1p36 deletion syndrome" | 0 - | 0 - | 0 - | 8 (1) 約100人 (2) 8人 年齢分布💬 |
198 | 4p欠失症候群 [染] 💬 "4p deletion syndrome", "4p-syndrome" | 0 - | 0 - | 0 - | 7 (1) 約1,000人以下 (2) 7人 年齢分布💬 |
199 | 5p欠失症候群 [染] 💬 "5p deletion syndrome", "5p-syndrome" | 0 - | 0 - | 0 - | 6 (1) 約1,000人以下(5万出生に1人、おそらく1,000人以下と推定される。) (2) 6人 年齢分布💬 |
200 | 第14番染色体父親性ダイソミー症候群 [染] 💬 "Paternal uniparental disomy of chromosome 14", "No. 14 chromosome father disomy syndrome", "Kagami-Ogata syndrome" | 0 - | 0 - | 0 - | 6 (1) 100人未満 (2) 6人 年齢分布💬 |
201 | アンジェルマン症候群 [神] 💬 "Angelman syndrome" | 24 24 trials 9 / 7 / 5 / 0 💬 | 35 35 drugs [ 9 9 drugs ] | 22 22 genes 20 pathways | 30 (1) 500〜1,000人程度 (2) 30人 年齢分布💬 |
202 | スミス・マギニス症候群 [染] 💬 "Smith-Magenis syndrome" | 10 10 trials 7 / 5 / 3 / 1 💬 | 12 12 drugs [ 5 5 drugs ] | 4 4 genes 7 pathways | 1 (1) 100人未満 (2) 1人 年齢分布💬 |
203 | 22q11.2欠失症候群 [染] 💬 "22q11.2 deletion syndrome" | 5 5 trials 2 / 1 / 1 / 0 💬 | 7 7 drugs [ 1 1 drug ] | 14 14 genes 23 pathways | 69 (1) 約4,500人 (2) 69人 年齢分布💬 |
204 | エマヌエル症候群 [染] 💬 "Emanuel syndrome", "Derivative 22 syndrome", "Partial trisomy (11", "22)" | 0 - | 0 - | 0 - | 5 (1) 100人未満 (2) 5人 年齢分布💬 |
205 | 脆弱X症候群関連疾患 [染] 💬 "Fragile X syndrome related disease", "Fragile X-associated tremor/ataxia syndrome", "FXTAS", "Fragile X-associated tremor", "Ataxia syndrome" | 5 5 trials 0 / 2 / 1 / 0 💬 | 13 13 drugs [ 7 7 drugs ] | 25 25 genes 29 pathways | 6 (1) [告示番号205-206計]100人未満 (2) 6人 年齢分布💬 |
206 | 脆弱X症候群 [染] 💬 "Fragile X syndrome" | 104 104 trials 33 / 49 / 16 / 8 💬 | 87 87 drugs [ 32 32 drugs ] | 54 54 genes 79 pathways | 2 (1) [告示番号205-206計]100人未満 (2) 2人 年齢分布💬 |
207 | 総動脈幹遺残症 [循] 💬 "Persistent truncus arteriosus", "Persistent truncus arteriosus type I", "Persistent truncus arteriosus type II", "Persistent truncus arteriosus type III", "Persistent truncus arteriosus type IV" | 0 - | 0 - | 0 - | 32 (1) 約500人 (2) 32人 年齢分布💬 |
208 | 修正大血管転位症 [循] 💬 "Corrected transposition of great arteries" | 0 - | 0 - | 0 - | 186 (1) [告示番号208-209計]約900人(修正大血管転位症及び完全大血管転位症の合計。) (2) 186人 年齢分布💬 |
209 | 完全大血管転位症 [循] 💬 "Complete transposition of great vessel", "Complete transposition of great arteries", "Complete TGA", "Complete transposition of great vessel type I", "Complete transposition of great arteries type I", "Complete TGA type I", "Complete transposition of great vessel type II", "Complete transposition of great arteries type II", "Complete TGA type II", "Complete transposition of great vessel type III", "Complete transposition of great arteries type III", "Complete TGA type III", "Complete transposition of great vessel type IV", "Complete transposition of great arteries type IV", "Complete TGA type IV" | 0 - | 0 - | 0 - | 244 (1) [告示番号208-209計]約900人(修正大血管転位症及び完全大血管転位症の合計。) (2) 244人 年齢分布💬 |
210 | 単心室症 [循] 💬 "Single Ventricle", "SV", "Single ventricle heart defect", "Univentricular heart", "UVH", "Single ventricular circulation syndrome" | 49 49 trials 22 / 14 / 23 / 6 💬 | 53 53 drugs [ 23 23 drugs ] | 32 32 genes 67 pathways | 425 (1) [告示番号210-213計]約3,500人(単心室循環症候群の総数。) (2) 425人 年齢分布💬 |
211 | 左心低形成症候群 [循] 💬 "Hypoplastic left heart syndrome", "HLHS" | 21 21 trials 11 / 10 / 0 / 0 💬 | 29 29 drugs [ 9 9 drugs ] | 5 5 genes 14 pathways | 54 (1) [告示番号210-213計]約3,500人(単心室循環症候群の総数。) (2) 54人 年齢分布💬 |
212 | 三尖弁閉鎖症 [循] 💬 "Tricuspid atresia", "TA" | 6 6 trials 2 / 2 / 0 / 0 💬 | 8 8 drugs [ 7 7 drugs ] | 8 8 genes 12 pathways | 183 (1) [告示番号210-213計]約3,500人(単心室循環症候群の総数。) (2) 183人 年齢分布💬 |
213 | 心室中隔欠損を伴わない肺動脈閉鎖症 [循] 💬 "Pulmonary atresia without ventricular septum defect", "Pulmonary atresia with intact ventricular septum", "Pulmonary atresia" | 0 - | 0 - | 0 - | 140 (1) [告示番号210-213計]約3,500人(単心室循環症候群の総数。) (2) 140人 年齢分布💬 |
214 | 心室中隔欠損を伴う肺動脈閉鎖症 [循] 💬 "Pulmonary atresia with ventricular septum defect", "PAVSD", "Pulmonary atresia with ventricular septal defect", "Pulmonary atresia", "Tetralogy of Fallot with pulmonary atresia", "TFPA" | 2 2 trials 0 / 0 / 0 / 0 💬 | 4 4 drugs [ 4 4 drugs ] | 0 - | 108 (1) [告示番号214-216計]約5,500人(ファロー四徴症類縁疾患の総数。) (2) 108人 年齢分布💬 |
215 | ファロー四徴症 [循] 💬 "Tetralogy of Fallot", "Fallot tetralogy" | 22 22 trials 5 / 4 / 1 / 1 💬 | 48 48 drugs [ 19 19 drugs ] | 18 18 genes 49 pathways | 689 (1) [告示番号214-216計]約5,500人(ファロー四徴症類縁疾患の総数。) (2) 689人 年齢分布💬 |
216 | 両大血管右室起始症 [循] 💬 "Double outlet right ventricle" | 0 - | 0 - | 0 - | 256 (1) [告示番号214-216計]約5,500人(ファロー四徴症類縁疾患の総数。) (2) 256人 年齢分布💬 |
217 | エプスタイン病 [循] 💬 "Ebstein disease", "Ebstein malformation" | 0 - | 0 - | 0 - | 130 (1) 約300人 (2) 130人 年齢分布💬 |
218 | アルポート症候群 [腎] 💬 "Alport syndrome", "X chromosome-linked Alport syndrome", "Autosomal recessive Alport syndrome" | 26 26 trials 11 / 17 / 8 / 2 💬 | 33 33 drugs [ 13 13 drugs ] | 6 6 genes 29 pathways | 223 (1) 約1,200人 (2) 223人 年齢分布💬 |
219 | ギャロウェイ・モワト症候群 [腎] 💬 "Galloway-Mowat syndrome" | 0 - | 0 - | 0 - | 1 (1) 約200人 (2) 1人 年齢分布💬 |
220 | 急速進行性糸球体腎炎 [腎] 💬 "Rapidly progressive glomerulonephritis" | 2 2 trials 0 / 1 / 2 / 0 💬 | 5 5 drugs [ 2 2 drugs ] | 1 1 gene 1 pathway | 1147 (1) 総患者数約3,800〜5,800人と推計されている。 (2) 1,147人 年齢分布💬 |
221 | 抗糸球体基底膜腎炎 [腎] 💬 "Anti-glomerular basement membrane disease" | 1 1 trial 0 / 1 / 0 / 0 💬 | 3 3 drugs [ 1 1 drug ] | 0 - | 343 (1) 約200〜400人 (2) 343人 年齢分布💬 |
222 | 一次性ネフローゼ症候群 [腎] 💬 "Primary nephrotic syndrome", "Minimal change nephrotic syndrome", "MCNS", "Membranous nephropathy", "Focal segmental glomerulosclerosis", "FSGS", "Membranoproliferative glomerulonephritis", "MPGN" | 285 285 trials 93 / 128 / 63 / 39 💬 | 285 285 drugs [ 108 108 drugs ] | 62 62 genes 191 pathways | 12221 (1) 約16,000人 (2) 12,221人 年齢分布💬 |
223 | 一次性膜性増殖性糸球体腎炎 [腎] 💬 "Primary membranoproliferative glomerulonephritis", "Primary MPGN", "Primary membranoproliferative glomerulonephritis type I", "Primary MPGN I", "Primary membranoproliferative glomerulonephritis type III", "Primary MPGN III", "Mesangial proliferative primary membranoproliferative glomerulonephritis type I", "Mesangial proliferative primary MPGN I", "Primary membranoproliferative glomerulonephritis type I, chronic / nest-like type", "Primary MPGN I, chronic / nest-like type", "Primary membranoproliferative glomerulonephritis type I, acute / nest-like type", "Primary MPGN I, acute / nest-like type", "Primary membranoproliferative glomerulonephritis type I, chronic / diffuse type", "Primary MPGN I, chronic / diffuse type", "Primary membranoproliferative glomerulonephritis type I, non-lobed type", "Primary MPGN I, non-lobed type", "Primary membranoproliferative glomerulonephritis type I, acute / diffuse type", "Primary MPGN I, acute / diffuse type", "Primary membranoproliferative glomerulonephritis type I, intraductal proliferation type", "Primary MPGN I, intraductal proliferation type", "Primary membranoproliferative glomerulonephritis type I, lobation type", "Primary MPGN I, lobation type", "Primary membranoproliferative glomerulonephritis type I, end-of-life type", "Primary MPGN I, end-of-life type" | 0 - | 0 - | 0 - | 367 (1) 約1,000人 (2) 367人 年齢分布💬 |
224 | 紫斑病性腎炎 [腎] 💬 "Purpura nephritis" | 13 13 trials 2 / 3 / 0 / 2 💬 | 42 42 drugs [ 20 20 drugs ] | 15 15 genes 57 pathways | 1023 (1) 400例〜640例/年 (2) 1,023人 年齢分布💬 |
225 | 先天性腎性尿崩症 [腎] 💬 "Congenital nephrogenic diabetes insipidus", "Hereditary nephrogenic diabetes insipidus", "Nephrogenic diabetes insipidus" | 15 15 trials 7 / 5 / 1 / 3 💬 | 48 48 drugs [ 18 18 drugs ] | 31 31 genes 65 pathways | 45 (1) 約200人 (2) 45人 年齢分布💬 |
226 | 間質性膀胱炎(ハンナ型) [腎] 💬 "Interstitial cystitis with Hunners ulcer", "Interstitial cystitis" | 143 143 trials 50 / 55 / 25 / 17 💬 | 171 171 drugs [ 56 56 drugs ] | 64 64 genes 145 pathways | 885 (1) 約2,000人 (2) 885人 年齢分布💬 |
227 | オスラー病 [染] 💬 "Osler disease", "Hereditary hemorrhagic telangiectasia", "Osler-Weber-Rendu disease" | 54 54 trials 21 / 31 / 14 / 5 💬 | 73 73 drugs [ 21 21 drugs ] | 23 23 genes 136 pathways | 837 (1) 約10,000人 (2) 837人 年齢分布💬 |
228 | 閉塞性細気管支炎 [呼] 💬 "Bronchiolitis obliterans", "Obliterating bronchiolitis" | 96 96 trials 49 / 38 / 35 / 16 💬 | 125 125 drugs [ 34 34 drugs ] | 33 33 genes 155 pathways | 35 (1) 約300〜500人 (2) 35人 年齢分布💬 |
229 | 肺胞蛋白症(自己免疫性又は先天性) [呼] 💬 "Autoimmune pulmonary alveolar proteinosis", "Congenital pulmonary alveolar proteinosis", "Hereditary pulmonary alveolar proteinosis", "Pulmonary alveolar proteinosis", "PAP", "Autoimmune PAP", "Congenital PAP" | 43 43 trials 32 / 21 / 26 / 5 💬 | 34 34 drugs [ 8 8 drugs ] | 3 3 genes 14 pathways | 212 (1) 約900人(自己免疫性PAP及び先天性PAP) (2) 212人 年齢分布💬 |
230 | 肺胞低換気症候群 [呼] 💬 "Alveolar hypoventilation syndrome", "AHS", "Hypoventilation syndrome", "Obesity hypoventilation syndrome", "OHS", "Congenital central hypoventilation syndrome", "CCHS", "Idiopathic central alveolar hypoventilation", "ICAH" | 8 8 trials 0 / 2 / 2 / 0 💬 | 11 11 drugs [ 5 5 drugs ] | 18 18 genes 28 pathways | 145 (1) 約3,000人 (2) 145人 年齢分布💬 |
231 | α1−アンチトリプシン欠乏症 [呼] 💬 "Alpha-1-antitrypsin deficiency", "AATD" | 89 89 trials 43 / 58 / 27 / 8 💬 | 89 89 drugs [ 16 16 drugs ] | 35 35 genes 47 pathways | 16 (1) 100人未満 (2) 16人 年齢分布💬 |
232 | カーニー複合 [染] 💬 "Carney complex" | 1 1 trial 0 / 1 / 0 / 0 💬 | 3 3 drugs [ 1 1 drug ] | 1 1 gene 29 pathways | 23 (1) 100人未満 (2) 23人 年齢分布💬 |
233 | ウォルフラム症候群 [内] 💬 "Wolfram syndrome", "Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome", "DIDMOAD syndrome" | 9 9 trials 6 / 8 / 2 / 1 💬 | 15 15 drugs [ 7 7 drugs ] | 11 11 genes 41 pathways | 12 (1) 約200人 (2) 12人 年齢分布💬 |
234 | ペルオキシソーム病(副腎白質ジストロフィーを除く。) [代] 💬 "Peroxisomal disease (except Adrenoleukodystrophy)", "Peroxisomal disease", "Peroxisomal disorder", "Peroxisome biogenesis disorder", "PEX gene disorder", "Zellweger syndrome", "Neonatal adrenoleukodystrophy", "Infantile Refsum disease", "Rhizomelic chondrodysplasia punctata type 1", "RCDP type 1", "RCDP1", "Peroxisomal beta-oxidation enzyme deficiency", "Acyl-CoA oxidase deficiency", "AOX deficiency", "D-Bifunctional protein deficiency", "DBP deficiency", "Sterol carrier protein X deficiency", "SCPx deficiency", "2-methylacyl-CoA racemase deficiency", "Alpha-methylacyl-CoA racemase deficiency", "AMACR deficiency", "Plasmalogen biosynthesis enzyme deficiency", "Rhizomelic chondrodysplasia punctata type 2", "RCDP type 2", "RCDP2", "Rhizomelic chondrodysplasia punctata type 3", "RCDP type 3", "RCDP3", "Refsum disease", "Primary hyperoxaluria type 1", "PH1", "Acatalasemia", "Acatalasia", "Takahara disease", "Contiguous ABCD1/DXS1357E deletion syndrome", "CADDS" | 41 41 trials 30 / 22 / 19 / 5 💬 | 37 37 drugs [ 12 12 drugs ] | 13 13 genes 44 pathways | (1) 100人未満 (2) - |
235 | 副甲状腺機能低下症 [内] 💬 "Hypoparathyroidism", "Accessory thyroid hypergasia disease" | 88 88 trials 21 / 20 / 36 / 17 💬 | 128 128 drugs [ 25 25 drugs ] | 5 5 genes 7 pathways | 302 (1) 約900人 (2) 302人 年齢分布💬 |
236 | 偽性副甲状腺機能低下症 [内] 💬 "Pseudohypoparathyroidism", "PHP", "PHP1a", "PHP1b", "PHP1c", "PHP2" | 6 6 trials 0 / 4 / 0 / 1 💬 | 4 4 drugs [ 2 2 drugs ] | 20 20 genes 28 pathways | 116 (1) 約400人 (2) 116人 年齢分布💬 |
237 | 副腎皮質刺激ホルモン不応症 [内] 💬 "ACTH unresponsiveness", "Adrenocorticotropic hormone unresponsiveness", "Adrenocorticotropic hormone insensitivity", "Triple A syndrome", "Allgrove syndrome" | 0 - | 0 - | 0 - | 14 (1) 100人未満 (2) 14人 年齢分布💬 |
238 | ビタミンD抵抗性くる病/骨軟化症 [骨] 💬 "Vitamin D-resistant rickets", "VDRR", "Vitamin D-resistant osteomalacia", "VDRO", "FGF23-related hypophosphatemic disease", "FGF23-related hypophosphatemia", "Hypophosphatemic rickets/osteomalacia", "Hypophosphatemic rickets", "Hypophosphatemic osteomalacia", "Acquired vitamin D-resistant osteomalacia", "Acquired VDRO", "Tumor-induced osteomalacia", "TIO" | 29 29 trials 6 / 6 / 8 / 3 💬 | 25 25 drugs [ 11 11 drugs ] | 4 4 genes 20 pathways | 396 (1) 厚生労働省ホルモン受容機構異常に関する研究班の全国調査から、本邦での年間発症症例数117例(95% CI 75-160)と推定されている。 (2) 396人 年齢分布💬 |
239 | ビタミンD依存性くる病/骨軟化症 [内] 💬 "Vitamin D-dependent rickets", "Vitamin D-dependent osteomalacia", "VDDR", "Vitamin D-dependent rickets type 1", "VDDR1", "Vitamin D-dependent rickets type 2", "VDDR2" | 0 - | 0 - | 0 - | 5 (1) 100人未満 (2) 5人 年齢分布💬 |
240 | フェニルケトン尿症 [代] 💬 "Phenylketonuria", "PKU", "Phenylalanine hydroxylase deficiency", "PAH deficiency", "Tetrahydrobiopterin deficiency", "BH4 deficiency", "BH4 reactive hyper pheemia" | 138 138 trials 78 / 30 / 36 / 26 💬 | 106 106 drugs [ 11 11 drugs ] | 1 1 gene 5 pathways | 264 (1) 約500人 (2) 264人 年齢分布💬 |
241 | 高チロシン血症1型 [代] 💬 "Hypertyrosinemia type I", "Tyrosinemia type I", "Tyrosinemia I", "Hereditary tyrosinemia, Type I", "Fumarylacetoacetate hydrolase deficiency", "FAH deficiency", "Acute hypertyrosinemia type I", "Acute tyrosinemia type I", "Acute tyrosinemia I", "Subacute hypertyrosinemia type I", "Subacute tyrosinemia type I", "Subacute tyrosinemia I", "Chronic hypertyrosinemia type I", "Chronic tyrosinemia type I", "Chronic tyrosinemia I" | 14 14 trials 4 / 1 / 1 / 1 💬 | 7 7 drugs [ 1 1 drug ] | 1 1 gene 5 pathways | 2 (1) [告示番号241-243計]100人未満 (2) 2人 年齢分布💬 |
242 | 高チロシン血症2型 [代] 💬 "Hypertyrosinemia type II", "Tyrosinemia type II", "Tyrosinemia II", "Hereditary tyrosinemia, Type II", "Acute hypertyrosinemia type II", "Acute tyrosinemia type II", "Acute tyrosinemia II", "Subacute hypertyrosinemia type II", "Subacute tyrosinemia type II", "Subacute tyrosinemia II", "Chronic hypertyrosinemia type II", "Chronic tyrosinemia type II", "Chronic tyrosinemia II" | 0 - | 0 - | 0 - | (1) [告示番号241-243計]100人未満 (2) - |
243 | 高チロシン血症3型 [代] 💬 "Hypertyrosinemia type III", "Tyrosinemia type III", "Tyrosinemia III", "Hereditary tyrosinemia, Type III", "Acute hypertyrosinemia type III", "Acute tyrosinemia type III", "Acute tyrosinemia III", "Subacute hypertyrosinemia type III", "Subacute tyrosinemia type III", "Subacute tyrosinemia III", "Chronic hypertyrosinemia type III", "Chronic tyrosinemia type III", "Chronic tyrosinemia III" | 0 - | 0 - | 0 - | 1 (1) [告示番号241-243計]100人未満 (2) 1人 年齢分布💬 |
244 | メープルシロップ尿症 [代] 💬 "Maple syrup urine disease", "MSUD" | 1 1 trial 0 / 1 / 1 / 0 💬 | 1 1 drug [ 1 1 drug ] | 0 - | 13 (1) 約100人 (2) 13人 年齢分布💬 |
245 | プロピオン酸血症 [代] 💬 "Propionic acidemia" | 13 13 trials 5 / 7 / 1 / 0 💬 | 17 17 drugs [ 3 3 drugs ] | 1 1 gene 6 pathways | 15 (1) 約300人 (2) 15人 年齢分布💬 |
246 | メチルマロン酸血症 [代] 💬 "Methylmalonic acidemia" | 19 19 trials 11 / 12 / 2 / 1 💬 | 26 26 drugs [ 3 3 drugs ] | 17 17 genes 23 pathways | 30 (1) 約300人 (2) 30人 年齢分布💬 |
247 | イソ吉草酸血症 [代] 💬 "Isovaleric acidemia", "Isovaleric aciduria", "Isovaleric acid CoA dehydrogenase deficiency" | 0 - | 0 - | 0 - | 3 (1) 100人未満 (2) 3人 年齢分布💬 |
248 | グルコーストランスポーター1欠損症 [代] 💬 "Glucose transporter type 1 deficiency", "GLUT1 deficiency" | 30 30 trials 43 / 21 / 9 / 8 💬 | 9 9 drugs [ 1 1 drug ] | 0 - | 14 (1) 100人未満 (2) 14人 年齢分布💬 |
249 | グルタル酸血症1型 [代] 💬 "Glutaric acidemia type 1" | 0 - | 0 - | 0 - | 4 (1) 100人未満 (2) 4人 年齢分布💬 |
250 | グルタル酸血症2型 [代] 💬 "Glutaric acidemia type 2", "Multiple acyl-CoA dehydrogenase deficiency", "Multiple acyl-CoA dehydrogenation deficiency", "MADD", "Glutaric acidemia type 2, neonatal onset type", "Multiple acyl-CoA dehydrogenase deficiency, neonatal onset type", "Multiple acyl-CoA dehydrogenation deficiency, neonatal onset type", "MADD, neonatal onset type", "Glutaric acidemia type 2, infant/school child onset type", "Multiple acyl-CoA dehydrogenase deficiency, infant/school child onset type", "Multiple acyl-CoA dehydrogenation deficiency, infant/school child onset type", "MADD, infant/school child onset type", "Glutaric acidemia type 2, adult-onset type", "Multiple acyl-CoA dehydrogenase deficiency, adult-onset type", "Multiple acyl-CoA dehydrogenation deficiency, adult-onset type", "MADD, adult-onset type" | 0 - | 0 - | 0 - | 7 (1) 100人未満 (2) 7人 年齢分布💬 |
251 | 尿素サイクル異常症 [代] 💬 "Urea cycle disorder", "N-acetylglutamate synthase deficiency", "NAGS deficiency", "Carbamoyl phosphate synthetase I deficiency", "CPS1 deficiency", "Ornithine transcarbamylase deficiency", "OTC deficiency", "Classic citrullinemia", "Citrullinemia type I", "Argininosuccinic aciduria", "Argininemia", "Hiperornitinemia-hiperamonemia-homocitrulinuria syndrome", "HHH syndrome" | 48 48 trials 30 / 28 / 2 / 5 💬 | 52 52 drugs [ 13 13 drugs ] | 4 4 genes 29 pathways | 92 (1) OTC欠損症 約500人 (2) 92人 年齢分布💬 |
252 | リジン尿性蛋白不耐症 [代] 💬 "Lysinuric protein intolerance" | 0 - | 0 - | 0 - | 27 (1) 100人未満 (2) 27人 年齢分布💬 |
253 | 先天性葉酸吸収不全 [代] 💬 "Congenital folate malabsorption", "Hereditary folate malabsorption", "Folate malabsorption" | 0 - | 0 - | 0 - | (1) 100人未満 (2) - |
254 | ポルフィリン症 [代] 💬 "Porphyria", "Acute intermittent porphyria", "AIP", "Hereditary coproporphyria", "HCP", "Variegate porphyria", "VP", "Erythropoietic protoporphyria", "EPP", "Porphyria cutanea tarda", "PCT", "Congenital erythropoietic porphyria", "CEP", "X-linked dominant protoporphyria", "XLDP", "Hepatoerythropoietic porphyria", "HEP" | 70 70 trials 18 / 16 / 36 / 3 💬 | 54 54 drugs [ 19 19 drugs ] | 19 19 genes 35 pathways | 47 (1) 約200人 (2) 47人 年齢分布💬 |
255 | 複合カルボキシラーゼ欠損症 [代] 💬 "Multiple carboxylase deficiency", "Holocarboxylase synthetase deficiency", "HCS deficiency", "Biotinidase deficiency" | 1 1 trial 1 / 1 / 0 / 0 💬 | 1 1 drug [ 0 - ] | 0 - | 6 (1) 本邦での HCS 欠損症の発症頻度は1/100万である。ビオチニダーゼ欠損症は数例の報告である。 (2) 6人 年齢分布💬 |
256 | 筋型糖原病 [代] 💬 "Muscle glycogenosis", "Muscular glycogenosis", "Muscle glycogen storage disease", "Muscular glycogen storage disease", "Glycogen storage disease type 0", "GSD0", "Glycogen synthase deficiency", "Glycogen storage disease type II", "GSDII", "Pompe disease", "Alpha-1,4-glucosidase acid deficiency", "Glycogen storage disease type III", "GSDIII", "Cori disease", "Forbes disease", "Glycogen debranching enzyme deficiency", "Glycogen storage disease type IV", "GSDIV", "Andersen disease", "Glycogen-branching enzyme deficiency", "GBED", "Glycogen storage disease type V", "GSDV", "McArdle disease", "Muscle phosphorylase deficiency", "Muscular phosphorylase deficiency", "Glycogen storage disease type VII", "GSDVII", "Tarui disease", "Phosphofructokinase deficiency", "PFK deficiency", "Glycogen storage disease type IXd", "GSDIXd", "Phosphorylase kinase deficiency", "Phosphoglycerate kinase deficiency", "PGK deficiency", "Glycogen storage disease type X", "GSDX", "Phosphoglycerate mutase deficiency", "Glycogen storage diseass type XI", "GSDXI", "Kanno disease", "Lactate dehydrogenase deficiency", "Glycogen storage diseass type XII", "GSDXII", "Aldolase A deficiency", "Glycogen storage diseass type XIII", "GSDXIII", "Beta-enolase deficiency", "Glycogen storage diseass type XIV", "GSDXIV", "Phosphoglucomutase deficiency", "Glycogen storage diseass type XV", "GSDXV", "Glycogenin 1 deficiency" | 180 180 trials 90 / 59 / 68 / 35 💬 | 153 153 drugs [ 30 30 drugs ] | 31 31 genes 134 pathways | 22 (1) 推定約3,000〜6,000人 (2) 22人 年齢分布💬 |
257 | 肝型糖原病 [代] 💬 "Hepatic glycogenosis", "Liver glycogenosis", "Hepatic glycogen storage disease", "Liver glycogen storage disease", "Glycogen storage disease type I", "GSDI", "von Gierke disease", "Glucose-6-phosphatase deficiency", "G6Pase deficiency", "Glycogen storage disease type III", "GSDIII", "Cori disease", "Forbes disease", "Glycogen debranching enzyme deficiency", "Glycogen storage disease type IV", "GSDIV", "Andersen disease", "Glycogen-branching enzyme deficiency", "GBED", "Adult polyglucosan body disease", "Glycogen storage disease type VI", "GSDVI", "Hers disease", "Hepatic phosphorylase deficiency", "Liver phosphorylase deficiency", "Glycogen storage disease type IX", "GSDIX", "Phosphorylase kinase deficiency" | 14 14 trials 4 / 7 / 0 / 0 💬 | 28 28 drugs [ 7 7 drugs ] | 3 3 genes 8 pathways | 101 (1) 約1,200人 (2) 101人 年齢分布💬 |
258 | ガラクトース−1−リン酸ウリジルトランスフェラーゼ欠損症 [代] 💬 "Galactose-1-phosphate uridylyltransferase deficiency", "Galactose-1-phosphate uridyltransferase deficiency", "Galactosemia type 1", "GALT deficiency" | 0 - | 0 - | 0 - | 2 (1) 100人未満 (2) 2人 年齢分布💬 |
259 | レシチンコレステロールアシルトランスフェラーゼ欠損症 [代] 💬 "Lecithin-cholesterol acyltransferase deficiency", "LCAT deficiency", "Classical lecithin-cholesterol acyltransferase deficiency", "Classical LCAT deficiency", "Partial lecithin-cholesterol acyltransferase deficiency", "Partial LCAT deficiency", "Fish-eye disease" | 1 1 trial 0 / 0 / 0 / 0 💬 | 2 2 drugs [ 1 1 drug ] | 0 - | 4 (1) 100人未満 (2) 4人 年齢分布💬 |
260 | シトステロール血症 [代] 💬 "Sitosterolemia" | 13 13 trials 0 / 1 / 5 / 0 💬 | 13 13 drugs [ 4 4 drugs ] | 1 1 gene 1 pathway | 24 (1) 100人未満 (2) 24人 年齢分布💬 |
261 | タンジール病 [代] 💬 "Tangier disease" | 1 1 trial 0 / 0 / 0 / 0 💬 | 2 2 drugs [ 1 1 drug ] | 0 - | 9 (1) 約100人未満 (2) 9人 年齢分布💬 |
262 | 原発性高カイロミクロン血症 [代] 💬 "Primary hyperchylomicronemia" | 0 - | 0 - | 0 - | 46 (1) 約300人 (2) 46人 年齢分布💬 |
263 | 脳腱黄色腫症 [代] 💬 "Cerebrotendinous xanthomatosis", "27-hydroxylase deficiency", "CYP27 deficiency" | 5 5 trials 0 / 1 / 2 / 0 💬 | 10 10 drugs [ 2 2 drugs ] | 2 2 genes 4 pathways | 48 (1) 100人未満 (2) 48人 年齢分布💬 |
264 | 無βリポタンパク血症 [代] 💬 "Abetalipoproteinemia", "Microsomal triglyceride transfer protein deficiency", "MTP deficiency" | 0 - | 0 - | 0 - | 4 (1) 100人未満(わが国では1,983年に第1例が報告されて以降数家系のみ) (2) 4人 年齢分布💬 |
265 | 脂肪萎縮症 [代] 💬 "Lipodystrophy", "Generalized congenital lipodystrophy", "Berardinelli-Seip syndrome", "Familial partial lipodystrophy", "Dunnigan-type familial partial lipodystrophy", "Kobbering-type familial partial lipodystrophy", "Acquired generalized lipodystrophy", "Lawrence syndrome", "Partial acquired lipodystrophy", "Barraquer-Simons syndrome" | 116 116 trials 33 / 34 / 21 / 31 💬 | 170 170 drugs [ 61 61 drugs ] | 26 26 genes 97 pathways | 33 (1) 約100人 (2) 33人 年齢分布💬 |
266 | 家族性地中海熱 [免] 💬 "Familial mediterranean fever" | 28 28 trials 1 / 8 / 10 / 1 💬 | 24 24 drugs [ 6 6 drugs ] | 14 14 genes 59 pathways | 530 (1) 約300人 (2) 530人 年齢分布💬 |
267 | 高IgD症候群 [免] 💬 "Hyper-IgD syndrome", "HIDS", "Mevalonate kinase deffiency", "Hyperimmunoglobulinemia D and periodic fever syndrome" | 11 11 trials 0 / 2 / 9 / 0 💬 | 6 6 drugs [ 1 1 drug ] | 1 1 gene 44 pathways | 2 (1) 100人未満 (2) 2人 年齢分布💬 |
268 | 中條・西村症候群 [免] 💬 "Nakajo-Nishimura syndrome", "Autoinflammation, lipodystrophy, and dermatosis syndrome", "CANDLE syndrome", "JMP syndrome", "Nakajo syndrome" | 1 1 trial 0 / 1 / 1 / 0 💬 | 1 1 drug [ 1 1 drug ] | 2 2 genes 35 pathways | 7 (1) 100人未満 (2) 7人 年齢分布💬 |
269 | 化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群 [免] 💬 "Pyogenic arthritis", "Pyoderma gangrenosum", "Acne syndrome", "PAPA syndrome" | 24 24 trials 7 / 14 / 7 / 2 💬 | 30 30 drugs [ 12 12 drugs ] | 15 15 genes 105 pathways | 7 (1) 約100人未満 (2) 7人 年齢分布💬 |
270 | 慢性再発性多発性骨髄炎 [骨] 💬 "Chronic recurrent multifocal osteomyelitis" | 1 1 trial 0 / 0 / 0 / 0 💬 | 10 10 drugs [ 9 9 drugs ] | 6 6 genes 73 pathways | 102 (1) 100人未満 (2) 102人 年齢分布💬 |
271 | 強直性脊椎炎 [骨] 💬 "Ankylosing spondylitis", "Spondylarthritis ankylopoietica" | 563 563 trials 236 / 141 / 233 / 110 💬 | 372 372 drugs [ 72 72 drugs ] | 41 41 genes 145 pathways | 4552 (1) 約4,500人 (2) 4,552人 年齢分布💬 |
272 | 進行性骨化性線維異形成症 [骨] 💬 "Fibrodysplasia ossificans progressiva", "FOP" | 40 40 trials 23 / 28 / 14 / 4 💬 | 36 36 drugs [ 6 6 drugs ] | 27 27 genes 95 pathways | 25 (1) 100人未満 (2) 25人 年齢分布💬 |
273 | 肋骨異常を伴う先天性側弯症 [骨] 💬 "Congenital scoliosis with rib anomaly", "Congenital scoliosis" | 0 - | 0 - | 0 - | 21 (1) 10歳以下の小児において、およそ2,000人以下。 (2) 21人 年齢分布💬 |
274 | 骨形成不全症 [骨] 💬 "Osteogenesis Imperfecta" | 87 87 trials 28 / 21 / 29 / 12 💬 | 103 103 drugs [ 20 20 drugs ] | 14 14 genes 76 pathways | 121 (1) 約6,000人 (2) 121人 年齢分布💬 |
275 | タナトフォリック骨異形成症 [骨] 💬 "Thanatophoric dysplasia" | 0 - | 0 - | 0 - | 5 (1) 100人未満 (2) 5人 年齢分布💬 |
276 | 軟骨無形成症 [骨] 💬 "Achondroplasia" | 46 46 trials 27 / 35 / 12 / 5 💬 | 29 29 drugs [ 6 6 drugs ] | 5 5 genes 30 pathways | 88 (1) 全国で6,000人(発生頻度から推定。) (2) 88人 年齢分布💬 |
277 | リンパ管腫症/ゴーハム病 [呼] 💬 "Lymphangiomatosis", "Generalized lymphatic anomaly", "Gorham disease", "Gorham-Stout disease", "Diffuse lymphangiomatosis", "Mass osteolysis" | 6 6 trials 2 / 2 / 1 / 0 💬 | 2 2 drugs [ 2 2 drugs ] | 1 1 gene 51 pathways | 56 (1) 約100人(研究班全国調査より推定) (2) 56人 年齢分布💬 |
278 | 巨大リンパ管奇形(頚部顔面病変) [呼] 💬 "Huge lymphatic malformation with cervicofacial lesion", "Huge lymphatic malformation", "Lymphatic malformation" | 22 22 trials 13 / 13 / 4 / 4 💬 | 27 27 drugs [ 7 7 drugs ] | 5 5 genes 63 pathways | 17 (1) 約600人 (2) 17人 年齢分布💬 |
279 | 巨大静脈奇形(頚部口腔咽頭びまん性病変) [循] 💬 "Huge venous malformation with cervical, oral and pharyngeal diffuse lesion", "Huge venous malformation", "Venous malformation" | 14 14 trials 2 / 6 / 1 / 2 💬 | 24 24 drugs [ 9 9 drugs ] | 3 3 genes 105 pathways | 47 (1) 約200人 (2) 47人 年齢分布💬 |
280 | 巨大動静脈奇形(頚部顔面又は四肢病変) [循] 💬 "Huge arteriovenous malformation with cervicofacial or limb lesion", "Huge arteriovenous malformation", "Arteriovenous malformation" | 25 25 trials 14 / 7 / 2 / 6 💬 | 29 29 drugs [ 15 15 drugs ] | 14 14 genes 153 pathways | 104 (1) 約700人 (2) 104人 年齢分布💬 |
281 | クリッペル・トレノネー・ウェーバー症候群 [循] 💬 "Klippel-Trenaunay-Weber syndrome", "Klippel-Trenauney-Weber syndrome", "Klippel-Trenaunay syndrome", "Klippel-Trenauney syndrome", "KTS", "Parkes Weber syndrome", "PWS" | 1 1 trial 0 / 0 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 1 1 gene 51 pathways | 239 (1) 約3,000人 (2) 239人 年齢分布💬 |
282 | 先天性赤血球形成異常性貧血 [血] 💬 "Congenital dyserythropoietic anemia", "CDA" | 1 1 trial 0 / 0 / 0 / 1 💬 | 1 1 drug [ 1 1 drug ] | 2 2 genes 4 pathways | 11 (1) 100人未満 (2) 11人 年齢分布💬 |
283 | 後天性赤芽球癆 [血] 💬 "Acquired pure red cell aplasia", "Pure red cell aplasia" | 18 18 trials 7 / 12 / 2 / 5 💬 | 42 42 drugs [ 22 22 drugs ] | 19 19 genes 98 pathways | 829 (1) 年間新規患者発生率:0.3人/100万人 (2) 829人 年齢分布💬 |
284 | ダイアモンド・ブラックファン貧血 [血] 💬 "Diamond-Blackfan anemia" | 37 37 trials 18 / 26 / 4 / 2 💬 | 110 110 drugs [ 34 34 drugs ] | 23 23 genes 124 pathways | 23 (1) 約200人 (2) 23人 年齢分布💬 |
285 | ファンコニ貧血 [血] 💬 "Fanconi anemia" | 59 59 trials 28 / 40 / 3 / 1 💬 | 118 118 drugs [ 32 32 drugs ] | 31 31 genes 155 pathways | 13 (1) 約200人 (2) 13人 年齢分布💬 |
286 | 遺伝性鉄芽球性貧血 [血] 💬 "Hereditary sideroblastic anemia", "Congenital sideroblastic anemia", "Sideroblastic anemia" | 7 7 trials 5 / 2 / 1 / 1 💬 | 23 23 drugs [ 10 10 drugs ] | 8 8 genes 42 pathways | 13 (1) 100人未満 (2) 13人 年齢分布💬 |
287 | エプスタイン症候群 [染] 💬 "Epstein syndrome" | 0 - | 0 - | 0 - | 12 (1) 約200人 (2) 12人 年齢分布💬 |
288 | 自己免疫性後天性凝固因子欠乏症 [免] 💬 "Autoimmune acquired coagulation factor deficiency", "Coagulation factor deficiency", "Factor XIII deficiency", "Factor VIII deficiency", "Acquired hemophilia A", "VWF deficiency", "von Willebrand Disease", "VWD", "Factor V deficiency", "Factor X deficiency" | 205 205 trials 54 / 31 / 93 / 29 💬 | 238 238 drugs [ 31 31 drugs ] | 18 18 genes 26 pathways | 414 (1) 約700人 (2) 414人 年齢分布💬 |
289 | クロンカイト・カナダ症候群 [消] 💬 "Cronkhite-Canada syndrome" | 0 - | 0 - | 0 - | 189 (1) 約500人 (2) 189人 年齢分布💬 |
290 | 非特異性多発性小腸潰瘍症 [消] 💬 "Chronic nonspecific multiple ulcers of the small intestine", "Nonspecific multiple ulcers in the small intestine" | 1 1 trial 1 / 1 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 1 1 gene 1 pathway | 88 (1) 約200人 (2) 88人 年齢分布💬 |
291 | ヒルシュスプルング病(全結腸型又は小腸型) [消] 💬 "Hirschsprung disease, entire colon type", "Hirschsprung disease, small intestine type", "Hirschsprung disease", "Hirschprung disease", "Hirschsprung disease associated entercolitis" | 14 14 trials 0 / 1 / 2 / 1 💬 | 35 35 drugs [ 15 15 drugs ] | 0 - | 19 (1) 約10,000人(そのうち全結腸型、小腸型は約1,000人) (2) 19人 年齢分布💬 |
292 | 総排泄腔外反症 [消] 💬 "Cloacal exstrophy", "Vesicointestinal fissure" | 0 - | 0 - | 0 - | 16 (1) 約300人 (2) 16人 年齢分布💬 |
293 | 総排泄腔遺残 [消] 💬 "Persistent cloaca" | 0 - | 0 - | 0 - | 42 (1) 約600人 (2) 42人 年齢分布💬 |
294 | 先天性横隔膜ヘルニア [呼] 💬 "Congenital diaphragmatic hernia" | 15 15 trials 6 / 2 / 7 / 3 💬 | 36 36 drugs [ 6 6 drugs ] | 5 5 genes 14 pathways | 13 (1) 約5,000人 (2) 13人 年齢分布💬 |
295 | 乳幼児肝巨大血管腫 [消] 💬 "Infant huge hepatic hemangioma", "Infant giant liver hemangioma" | 0 - | 0 - | 0 - | (1) 100人未満 (2) - |
296 | 胆道閉鎖症 [消] 💬 "Biliary atresia" | 63 63 trials 6 / 18 / 10 / 5 💬 | 65 65 drugs [ 37 37 drugs ] | 45 45 genes 63 pathways | 422 (1) 約3,500人 (2) 422人 年齢分布💬 |
297 | アラジール症候群 [染] 💬 "Alagille syndrome" | 43 43 trials 12 / 21 / 16 / 2 💬 | 19 19 drugs [ 9 9 drugs ] | 2 2 genes 2 pathways | 41 (1) 約200〜300人 (2) 41人 年齢分布💬 |
298 | 遺伝性膵炎 [消] 💬 "Hereditary pancreatitis", "Chronic pancreatitis" | 98 98 trials 20 / 26 / 17 / 8 💬 | 180 180 drugs [ 57 57 drugs ] | 53 53 genes 142 pathways | 31 (1) 約300〜400人 (2) 31人 年齢分布💬 |
299 | 嚢胞性線維症 [消] 💬 "Cystic fibrosis" | 1,696 1,696 trials 682 / 508 / 620 / 215 💬 | 1,644 1,644 drugs [ 272 272 drugs ] | 96 96 genes 170 pathways | 12 (1) 100人未満 (2) 12人 年齢分布💬 |
300 | IgG4関連疾患 [免] 💬 "IgG4-related disease", "Autoimmune pancreatitis", "IgG4-related sclerosing cholangitis", "IgG4-related lacrimal gland, orbital, and salivary gland lesions", "IgG4-related kidney disease" | 36 36 trials 4 / 8 / 14 / 4 💬 | 49 49 drugs [ 22 22 drugs ] | 16 16 genes 98 pathways | 3371 (1) 約8,000人 (2) 3,371人 年齢分布💬 |
301 | 黄斑ジストロフィー [視] 💬 "Macular dystrophy", "Vitelliform macular dystrophy", "Best vitelliform macular dystrophy", "Best disease", "Stargardt disease", "Occult macular dystrophy", "Cone dystrophy", "Cone rod dystrophy", "X-linked juvenile retinoschisis", "Central areolar choroidal dystrophy" | 45 45 trials 26 / 28 / 9 / 2 💬 | 46 46 drugs [ 12 12 drugs ] | 9 9 genes 67 pathways | 217 (1) 1,000名 (2) 217人 年齢分布💬 |
302 | レーベル遺伝性視神経症 [視] 💬 "Leber hereditary optic neuropathy" | 22 22 trials 28 / 11 / 16 / 6 💬 | 16 16 drugs [ 4 4 drugs ] | 5 5 genes 33 pathways | 126 (1) 一年間の新規発症推定患者数117人 (2) 126人 年齢分布💬 |
303 | アッシャー症候群 [視] 💬 [耳] 💬 "Usher syndrome" | 9 9 trials 9 / 9 / 3 / 1 💬 | 13 13 drugs [ 0 - ] | 0 - | 20 (1) 約8,160人 (2) 20人 年齢分布💬 |
304 | 若年発症型両側性感音難聴 [耳] 💬 "Juvenile-onset bilateral sensorineural hearing loss" | 0 - | 0 - | 0 - | 42 (1) 約4,000人 (2) 42人 年齢分布💬 |
305 | 遅発性内リンパ水腫 [耳] 💬 "Delayed endolymphatic hydrops" | 1 1 trial 0 / 0 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 0 - | 27 (1) 約4,000〜5,000人 (2) 27人 年齢分布💬 |
306 | 好酸球性副鼻腔炎 [免] 💬 [耳] 💬 "Eosinophilic sinusitis" | 0 - | 0 - | 0 - | 17525 (1) 約20,000人 (2) 17,525人 年齢分布💬 |
307 | カナバン病 [神] 💬 "Canavan disease" | 5 5 trials 3 / 3 / 0 / 0 💬 | 9 9 drugs [ 3 3 drugs ] | 2 2 genes 2 pathways | 1 (1) 数人 (2) 1人 年齢分布💬 |
308 | 進行性白質脳症 [神] 💬 "Progressive leukoencephalopathy", "Megalencephalic leukoencephalopathy with subcortical cyst", "Leukoencephalopathy with vanishing white matter", "Leukoencephalopathy, progressive, with ovarian failure" | 0 - | 0 - | 0 - | 20 (1) 100人未満 (2) 20人 年齢分布💬 |
309 | 進行性ミオクローヌスてんかん [神] 💬 "Progressive myoclonus epilepsy", "Unverricht-Lundborg disease", "Lafora disease", "Benign adult familial myoclonus epilepsy", "BAFME" | 11 11 trials 0 / 0 / 4 / 0 💬 | 15 15 drugs [ 2 2 drugs ] | 4 4 genes 9 pathways | 41 (1) 約3,000人 (2) 41人 年齢分布💬 |
310 | 先天異常症候群 [染] 💬 "Congenital anomalies syndrome", "Partial trisomy 1q syndrome", "Trisomy 1q", "9q34 deletion syndrome", "Cornelia de Lange syndrome", "CdLS", "Smith-Lemli-Opitz syndrome", "SLO syndrome" | 10 10 trials 2 / 7 / 0 / 0 💬 | 18 18 drugs [ 10 10 drugs ] | 3 3 genes 7 pathways | 30 (1) 約4,000人 (2) 30人 年齢分布💬 |
311 | 先天性三尖弁狭窄症 [循] 💬 "Congenital tricuspid stenosis" | 0 - | 0 - | 0 - | 3 (1) 約500人 (2) 3人 年齢分布💬 |
312 | 先天性僧帽弁狭窄症 [循] 💬 "Congenital mitral stenosis" | 0 - | 0 - | 0 - | 12 (1) 約100人 (2) 12人 年齢分布💬 |
313 | 先天性肺静脈狭窄症 [循] 💬 "Congenital pulmonary vein stenosis" | 0 - | 0 - | 0 - | 1 (1) 約80人 (2) 1人 年齢分布💬 |
314 | 左肺動脈右肺動脈起始症 [循] 💬 "Vascular sling" | 0 - | 0 - | 0 - | 2 (1) 約600人 (2) 2人 年齢分布💬 |
315 | ネイルパテラ症候群(爪膝蓋骨症候群)/LMX1B関連腎症 [腎] 💬 "Nail-Patella syndrome", "LMX1B-associated nephropathy" | 0 - | 0 - | 0 - | 7 (1) 約500人 (2) 7人 年齢分布💬 |
316 | カルニチン回路異常症 [代] 💬 "Carnitine cycle disorder", "Carnitine palmitoyltransferase I deficiency", "CPT1 deficiency", "Carnitine palmitoyltransferase II deficiency", "CPT2 deficiency", "Carnitine-acylcarnitine translocase deficiency", "CACT deficiency", "Carnitine transporter deficiency", "OCTN-2 deficiency" | 4 4 trials 0 / 1 / 1 / 0 💬 | 10 10 drugs [ 4 4 drugs ] | 2 2 genes 11 pathways | 19 (1) 約960人 (2) 19人 年齢分布💬 |
317 | 三頭酵素欠損症 [代] 💬 "Trifunctional protein deficiency", "TFP deficiency", "Trifunctional protein deficiency, neonatal onset", "TFP deficiency, neonatal onset", "Trifunctional protein deficiency, infant onset", "TFP deficiency, infant onset", "Trifunctional protein deficiency, delayed onset", "TFP deficiency, delayed onset", "Trifunctional protein deficiency, pre onset", "TFP deficiency, pre onset" | 3 3 trials 0 / 0 / 0 / 0 💬 | 8 8 drugs [ 4 4 drugs ] | 1 1 gene 1 pathway | 4 (1) 100人未満 (2) 4人 年齢分布💬 |
318 | シトリン欠損症 [代] 💬 "Citrin deficiency", "Neonatal intrahepatic cholestasis caused by citrin deficiency", "NICCD", "Adult-onset type II citrullinemia", "CTLN2" | 2 2 trials 0 / 1 / 0 / 0 💬 | 2 2 drugs [ 2 2 drugs ] | 0 - | 62 (1) 約1,500人 (2) 62人 年齢分布💬 |
319 | セピアプテリン還元酵素(SR)欠損症 [代] 💬 "Sepiapterin reductase deficiency" | 0 - | 0 - | 0 - | 2 (1) (2) 2人 年齢分布💬 |
320 | 先天性グリコシルホスファチジルイノシトール(GPI)欠損症 [神] 💬 "Inherited glycosylphosphatidylinositol deficiency", "Inherited GPI deficiency", "IGD", "Congenital glycosylphosphatidylinositol deficiency", "Congenital GPI deficiency" | 3 3 trials 0 / 0 / 0 / 0 💬 | 2 2 drugs [ 2 2 drugs ] | 0 - | (1) 100人未満 (2) - |
321 | 非ケトーシス型高グリシン血症 [代] 💬 "Non-ketotic hyperglycinemia", "NKH", "Neonatal non-ketotic hyperglycinemia", "Neonatal NKH", "Infantile non-ketotic hyperglycinemia", "Infantile NKH" | 1 1 trial 0 / 0 / 0 / 0 💬 | 2 2 drugs [ 2 2 drugs ] | 0 - | 2 (1) 100人未満 (2) 2人 年齢分布💬 |
322 | β−ケトチオラーゼ欠損症 [代] 💬 "Beta-ketothiolase deficiency" | 0 - | 0 - | 0 - | (1) 100人未満 (2) - |
323 | 芳香族L-アミノ酸脱炭酸酵素欠損症 [代] 💬 "Aromatic L-amino acid decarboxylase deficiency" | 1 1 trial 0 / 0 / 0 / 0 💬 | 2 2 drugs [ 1 1 drug ] | 3 3 genes 2 pathways | 4 (1) 100人未満(約10例) (2) 4人 年齢分布💬 |
324 | メチルグルタコン酸尿症 [代] 💬 "Methylglutaconic aciduria", "3-methylglutaconyl-CoA hydratase deficiency", "3-methylglutaconic aciduria", "3-MGA", "3-MGA type I", "Barth syndrome", "3-MGA type II", "Costeff syndrome", "3-MGA type III", "Mitochondrial respiratory chain disorder", "3-MGA type IV", "Dilated cardiomyopathy with ataxia syndrome", "DCMA syndrome", "3-MGA type V" | 4 4 trials 5 / 2 / 2 / 1 💬 | 4 4 drugs [ 3 3 drugs ] | 1 1 gene 10 pathways | 1 (1) 100人未満 (2) 1人 年齢分布💬 |
325 | 遺伝性自己炎症疾患 [免] 💬 "Hereditary autoinflammatory syndrome", "NLRC4 abnormality", "Adenosine deaminase 2 deficiency", "ADA2 deficiency", "DADA2", "Aicardi-Goutieres syndrome", "AGS", "A20 haploinsufficiency", "HA20" | 7 7 trials 1 / 6 / 1 / 0 💬 | 16 16 drugs [ 6 6 drugs ] | 2 2 genes 35 pathways | 13 (1) 100人未満(すべて成人症例が存在する。) (2) 13人 年齢分布💬 |
326 | 大理石骨病 [代] 💬 "Osteopetrosis", "Neonatal / infantile osteopetrosis", "Intermediate osteopetrosis", "Delayed-onset osteopetrosis" | 20 20 trials 5 / 13 / 4 / 0 💬 | 51 51 drugs [ 14 14 drugs ] | 17 17 genes 81 pathways | 23 (1) 約100人 (2) 23人 年齢分布💬 |
327 | 特発性血栓症(遺伝性血栓性素因によるものに限る。) [血] 💬 "Idiopathic thrombosis" | 0 - | 0 - | 0 - | 205 (1) 研究班の全国調査から、本邦での患者総数は、約2,000人、年間発症患者数は、新生児・乳児期発症患者は100人未満、成人発症患者は約500人と推定される。 (2) 205人 年齢分布💬 |
328 | 前眼部形成異常 [視] 💬 "Anterior segment dysgenesis", "ASD" | 0 - | 0 - | 0 - | 13 (1) 約6,000人 (2) 13人 年齢分布💬 |
329 | 無虹彩症 [視] 💬 "Aniridia" | 3 3 trials 0 / 2 / 0 / 0 💬 | 2 2 drugs [ 2 2 drugs ] | 0 - | 120 (1) 約1,200人 (2) 120人 年齢分布💬 |
330 | 先天性気管狭窄症/先天性声門下狭窄症 [呼] 💬 "Congenital tracheal stenosis", "Congenital subglottic stenosis" | 1 1 trial 0 / 1 / 0 / 0 💬 | 3 3 drugs [ 2 2 drugs ] | 0 - | 41 (1) 約1,000人 (2) 41人 年齢分布💬 |
331 | 特発性多中心性キャッスルマン病 [血] 💬 "Idiopathic multicentric castleman disease", "iMCD", "Castleman disease" | 33 33 trials 16 / 23 / 2 / 4 💬 | 46 46 drugs [ 25 25 drugs ] | 31 31 genes 155 pathways | 1526 (1) 約1,500人 (2) 1,526人 年齢分布💬 |
332 | 膠様滴状角膜ジストロフィー [視] 💬 "Gelatinous drop-like corneal dystrophy" | 0 - | 0 - | 0 - | 4 (1) 約400人 (2) 4人 年齢分布💬 |
333 | ハッチンソン・ギルフォード症候群 [染] 💬 "Hutchinson-Gilford syndrome", "Hutchinson-Gilford progeria syndrome", "HGPS" | 7 7 trials 2 / 5 / 0 / 0 💬 | 8 8 drugs [ 3 3 drugs ] | 4 4 genes 6 pathways | (1) 100人未満 (2) - |
334 | 脳クレアチン欠乏症候群 [神] 💬 "Cerebral creatine deficiency syndrome", "CCDS" | 0 - | 0 - | 0 - | (1) 100人未満 (2) - |
335 | ネフロン癆 [腎] 💬 "Nephronophthisis", "NPHP", "NPH" | 0 - | 0 - | 0 - | 3 (1) 130人〜220人程度 (2) 3人 年齢分布💬 |
336 | 家族性低βリポタンパク血症1(ホモ接合体) [代] 💬 "Familial hypobetalipoproteinemia 1", "FHBL1" | 0 - | 0 - | 0 - | (1) 100万人あたり1人以下(わが国では、数家系のみ) (2) - |
337 | ホモシスチン尿症 [代] 💬 "Homocystinuria", "Homocystinuria type I", "Cystathionine beta-synthase deficiency", "CBS deficiency", "Homocystinuria type II", "Homocystinuria cblC type", "Cobalamin C deficiency", "cblC deficiency", "Homocystinuria type III", "Methylenetetrahydrofolate reductase deficiency", "MTHFR deficiency" | 13 13 trials 5 / 9 / 0 / 0 💬 | 13 13 drugs [ 4 4 drugs ] | 2 2 genes 23 pathways | 11 (1) Ⅰ型、CBS欠損症:約200人;Ⅱ型:100人未満;Ⅲ型:100人未満 (2) 11人 年齢分布💬 |
338 | 進行性家族性肝内胆汁うっ滞症 [消] 💬 "Progressive familial intrahepatic cholestasis", "PFIC" | 60 60 trials 37 / 19 / 41 / 7 💬 | 25 25 drugs [ 6 6 drugs ] | 2 2 genes 2 pathways | 2 (1) 約100人 (2) 2人 年齢分布💬 |