Disease 指定難病

疾患数 : 338 - 臨床試験総数 : 34,520 / 薬物総数 : 19,957 - ( DrugBank : 2,195 ) / 標的遺伝子総数 : 613 - 標的パスウェイ総数 : 297

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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 医療費受給者証所持者数 (R5年度)
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"  "Lysosomal storage disease", "Lysosomal disease", "Gaucher disease", "Niemann-Pick disease type A/B" ...   19. ライソゾーム病 × [代] 代謝疾患	899 trials    | 549 / 383 / 342 / 126 💬   19. ライソゾーム病 × Some trials have no Phase data.	684 drugs   [ 99 drugs ]	51 genes   |  182 pathways	1,756人 年齢分布💬   19. ライソゾーム病 × 年齢 患者数 0-9 1 10-19 10 20-29 296 30-39 301 40-49 353 50-59 331 60-69 267 70-74 95 75- 102
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)"  "Adrenoleukodystrophy", "ALD", "Childhood cerebral adrenoleukodystrophy", "Childhood cerebral ALD", ...   20. 副腎白質ジストロフィー × [代] 代謝疾患	61 trials    | 42 / 36 / 28 / 7 💬   20. 副腎白質ジストロフィー × Some trials have no Phase data.	90 drugs   [ 31 drugs ]	23 genes   |  126 pathways	268人 年齢分布💬   20. 副腎白質ジストロフィー × 年齢 患者数 0-9 - 10-19 9 20-29 66 30-39 53 40-49 45 50-59 43 60-69 27 70-74 14 75- 11
21	ミトコンドリア病 [代] 💬 "Mitochondrial disease"   21. ミトコンドリア病 × [代] 代謝疾患	39 trials    | 7 / 21 / 15 / 2 💬   21. ミトコンドリア病 × Some trials have no Phase data.	42 drugs   [ 32 drugs ]	47 genes   |  67 pathways	1,671人 年齢分布💬   21. ミトコンドリア病 × 年齢 患者数 0-9 4 10-19 21 20-29 246 30-39 249 40-49 366 50-59 339 60-69 254 70-74 88 75- 104
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"  "Systemic amyloidosis", "AL amyloidosis", "Immunoglobulin light chain amyloidosis", "Amyloid light-c ...   28. 全身性アミロイドーシス × [代] 代謝疾患	267 trials    | 82 / 116 / 111 / 11 💬   28. 全身性アミロイドーシス × Some trials have no Phase data.	241 drugs   [ 77 drugs ]	68 genes   |  180 pathways	6,817人 年齢分布💬   28. 全身性アミロイドーシス × 年齢 患者数 0-9 - 10-19 - 20-29 6 30-39 34 40-49 128 50-59 436 60-69 947 70-74 1,131 75- 4,135
79	家族性高コレステロール血症（ホモ接合体） [代] 💬 "Homozygous familial hypercholesterolemia"   79. 家族性高コレステロール血症（ホモ接合体） × [代] 代謝疾患	145 trials    | 51 / 42 / 94 / 10 💬   79. 家族性高コレステロール血症（ホモ接合体） × Some trials have no Phase data.	114 drugs   [ 26 drugs ]	8 genes   |  17 pathways	413人 年齢分布💬   79. 家族性高コレステロール血症（ホモ接合体） × 年齢 患者数 0-9 - 10-19 1 20-29 18 30-39 39 40-49 72 50-59 99 60-69 88 70-74 45 75- 51
169	メンケス病 [代] 💬 "Menkes disease"   169. メンケス病 × [代] 代謝疾患	6 trials    | 2 / 2 / 1 / 0 💬   169. メンケス病 × Some trials have no Phase data.	6 drugs   [ 4 drugs ]	9 genes   |  14 pathways	2人 年齢分布💬   169. メンケス病 × 年齢 患者数 0-9 - 10-19 - 20-29 2 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
171	ウィルソン病 [代] 💬 "Wilson disease", "WD"   171. ウィルソン病 × [代] 代謝疾患	79 trials    | 42 / 24 / 32 / 15 💬   171. ウィルソン病 × Some trials have no Phase data.	77 drugs   [ 17 drugs ]	6 genes   |  30 pathways	779人 年齢分布💬   171. ウィルソン病 × 年齢 患者数 0-9 - 10-19 6 20-29 209 30-39 176 40-49 164 50-59 154 60-69 55 70-74 11 75- 4
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"  "Peroxisomal disease (except Adrenoleukodystrophy)", "Peroxisomal disease", "Peroxisomal disorder", ...   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] 代謝疾患	39 trials    | 30 / 21 / 18 / 5 💬   234. ペルオキシソーム病（副腎白質ジストロフィーを除く。） × Some trials have no Phase data.	35 drugs   [ 12 drugs ]	13 genes   |  45 pathways	3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。） × 年齢 患者数 0-9 - 10-19 - 20-29 2 30-39 - 40-49 1 50-59 - 60-69 - 70-74 - 75- -
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"  "Phenylketonuria", "PKU", "Phenylalanine hydroxylase deficiency", "PAH deficiency", "Tetrahydrobiopt ...   240. フェニルケトン尿症 × [代] 代謝疾患	143 trials    | 79 / 31 / 43 / 26 💬   240. フェニルケトン尿症 × Some trials have no Phase data.	90 drugs   [ 10 drugs ]	1 gene   |  5 pathways	298人 年齢分布💬   240. フェニルケトン尿症 × 年齢 患者数 0-9 - 10-19 - 20-29 132 30-39 88 40-49 54 50-59 20 60-69 4 70-74 - 75- -
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"  "Hypertyrosinemia type I", "Tyrosinemia type I", "Tyrosinemia I", "Hereditary tyrosinemia, Type I", ...   241. 高チロシン血症1型 × [代] 代謝疾患	14 trials    | 4 / 1 / 1 / 1 💬   241. 高チロシン血症1型 × Some trials have no Phase data.	7 drugs   [ 1 drug ]	1 gene   |  5 pathways	3人 年齢分布💬   241. 高チロシン血症1型 × 年齢 患者数 0-9 - 10-19 1 20-29 2 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -

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