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
疾患群: 神経・筋疾患| 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  💬 |
| 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  💬 |
| 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  💬 |
| 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  💬 |
| 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  💬 |
| 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  💬 |
| 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  💬 |
| 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  💬 |
| 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) - |
| 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) - |