Disease 指定難病
疾患数 : 348 - 臨床試験総数 : 43,690 / 薬物総数 : 27,527 - ( DrugBank : 2,441 ) / 標的遺伝子総数 : 714 - 標的パスウェイ総数 : 315
| 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 R6年度医療費受給者証所持者数（修正版） |
|---|---|---|---|---|---|
| 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", "Krabbe syndrome", "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", "Schindler syndrome", "Kanzaki disease", "Kanzaki syndrome", "Pompe disease", "Pompe syndrome", "Acid lipase deficiency", "Wolman disease", "Cholesterol ester storage disease", "Danon disease", "Danon syndrome", "Free sialic acid storage disease", "Infantile sialic acid storage disease", "ISSD", "Salla disease", "Salla syndrome", "Ceroid lipofuscinosis", "Fabry disease", "Cystinosis" | 1,038 1,038 trials | 231 / 391 / 348 / 62 💬 | 873 873 drugs [ 121 121 drugs ] | 63 63 genes | 195 pathways | 1837 1,837人年齢分布
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| 20 | 副腎白質ジストロフィー [代] 💬 "Adrenoleukodystrophy", "ALD", "Childhood cerebral ALD", "CCALD", "Adolescent cerebral ALD", "AdoCALD", "AdolCALD", "Adrenomyeloneuropathy", "AMN", "Adult cerebral ALD", "ACALD" | 71 71 trials | 10 / 30 / 29 / 1 💬 | 100 100 drugs [ 29 29 drugs ] | 22 22 genes | 125 pathways | 260 260人年齢分布
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| 21 | ミトコンドリア病 [代] 💬 "Mitochondrial disease", "Choronic progressive external ophthalmolegia", "CPEO", "Leigh syndrome", "Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode", "MELAS", "Myoclonus epilepsy associated with ragged-red fibers", "MERRF", "Mitochondrial respiratory chain disorders", "Pearson syndrome" | 108 108 trials | 13 / 50 / 33 / 2 💬 | 107 107 drugs [ 35 35 drugs ] | 48 48 genes | 110 pathways | 1672 1,672人年齢分布
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| 28 | 全身性アミロイドーシス [代] 💬 "Systemic amyloidosis", "Immunoglobulin light chain amyloidosis", "Amyloid light-chain amyloidosis", "AL amyloidosis", "Immunoglobulin light chain amyloidosis", "Immunoglobulin-related amyloidosis", "Amyloid heavy-chain amyloidosis", "Amyloid heavy-chain amyloidosis", "AH amyloidosis", "Systemic wild-type transthyretin amyloidosis", "Senile systemic amyloidosis", "SSA", "Transthyretin amyloid cardiomyopathy", "ATTR-CM", "Hereditary transthyretin amyloidosis", "Familial amyloidosis", "Familial amyloid polyneuropathy", "FAP", "Transthyretin amyloid cardiomyopathy", "ATTR-CM", "Hereditary systemic amyloidosis" | 454 454 trials | 56 / 155 / 203 / 11 💬 | 430 430 drugs [ 90 90 drugs ] | 66 66 genes | 183 pathways | 8169 8,169人年齢分布
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| 79 | 家族性高コレステロール血症（ホモ接合体） [代] 💬 "Homozygous familial hypercholesterolemia", "Familial hypercholesterolemia", "Familial hypercholesterolaemia" | 525 525 trials | 18 / 85 / 285 / 19 💬 | 330 330 drugs [ 49 49 drugs ] | 20 20 genes | 59 pathways | 488 488人年齢分布
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| 169 | メンケス病 [代] 💬 "Menkes disease", "Menkes syndrome" | 9 9 trials | 3 / 3 / 1 / 0 💬 | 8 8 drugs [ 3 3 drugs ] | 9 9 genes | 16 pathways | 2 2人年齢分布
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| 171 | ウィルソン病 [代] 💬 "Wilson disease", "WD" | 93 93 trials | 15 / 25 / 31 / 9 💬 | 104 104 drugs [ 18 18 drugs ] | 7 7 genes | 33 pathways | 789 789人年齢分布
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| 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 syndrome", "Peroxisomal disorder", "Peroxisome biogenesis disorder", "Contiguous ABCD1/DXS1357E deletion syndrome", "CADDS", "Peroxisome biogenesis disorder", "PBD", "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", "Refsum syndrome", "Primary hyperoxaluria type 1", "PH1", "Primary hyperoxaluria", "Acatalasemia", "Acatalasia", "Takahara disease", "Takahara syndrome" | 118 118 trials | 20 / 43 / 44 / 0 💬 | 85 85 drugs [ 18 18 drugs ] | 15 15 genes | 50 pathways | 3 3人年齢分布
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| 240 | フェニルケトン尿症 [代] 💬 "Phenylketonuria", "PKU", "Hyperphenylalaninemia", "HPA", "Phenylalanine hydroxylase deficiency", "PAH deficiency", "Tetrahydrobiopterin deficiency", "BH4 deficiency", "BH4 reactive hyper pheemia" | 182 182 trials | 20 / 27 / 51 / 18 💬 | 144 144 drugs [ 12 12 drugs ] | 3 3 genes | 5 pathways | 314 314人年齢分布
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| 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" | 15 15 trials | 4 / 1 / 1 / 1 💬 | 7 7 drugs [ 1 1 drug ] | 1 1 gene | 3 pathways | 3 3人年齢分布
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| 242 | 高チロシン血症2型 [代] 💬 "Hypertyrosinemia type II", "Tyrosinemia type II", "Tyrosinemia II", "Hereditary tyrosinemia, Type II" | 0 - | 0 - | 0 - | 1 1人年齢分布
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| 243 | 高チロシン血症3型 [代] 💬 "Hypertyrosinemia type III", "Tyrosinemia type III", "Tyrosinemia III", "Hereditary tyrosinemia, Type III" | 0 - | 0 - | 0 - | 1 1人年齢分布
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| 244 | メープルシロップ尿症 [代] 💬 "Maple syrup urine disease", "MSUD" | 5 5 trials | 0 / 1 / 1 / 0 💬 | 12 12 drugs [ 2 2 drugs ] | 0 - | 18 18人年齢分布
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| 245 | プロピオン酸血症 [代] 💬 "Propionic acidemia" | 17 17 trials | 7 / 9 / 1 / 0 💬 | 20 20 drugs [ 4 4 drugs ] | 1 1 gene | 3 pathways | 20 20人年齢分布
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| 246 | メチルマロン酸血症 [代] 💬 "Methylmalonic acidemia", "MMA" | 29 29 trials | 10 / 14 / 1 / 1 💬 | 31 31 drugs [ 8 8 drugs ] | 17 17 genes | 20 pathways | 32 32人年齢分布
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| 247 | イソ吉草酸血症 [代] 💬 "Isovaleric acidemia", "Isovaleric aciduria", "Isovaleric acid CoA dehydrogenase deficiency" | 2 2 trials | 0 / 0 / 0 / 0 💬 | 7 7 drugs [ 1 1 drug ] | 0 - | 4 4人年齢分布
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| 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" | 31 31 trials | 3 / 18 / 5 / 0 💬 | 12 12 drugs [ 2 2 drugs ] | 0 - | 25 25人年齢分布
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| 249 | グルタル酸血症1型 [代] 💬 "Glutaric acidemia type 1" | 0 - | 0 - | 0 - | 9 9人年齢分布
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| 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" | 0 - | 0 - | 0 - | 14 14人年齢分布
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| 251 | 尿素サイクル異常症 [代] 💬 "Urea cycle disorder", "Primary hyperammonemia", "Carbamoyl phosphate synthetase I deficiency", "CPSI deficiency", "Ornithine transcarbamylase deficiency", "OTC deficiency", "Classic citrullinemia", "Citrullinemia type I", "Argininosuccinic aciduria", "Argininemia", "N-acetylglutamate synthase deficiency", "NAGS deficiency" | 70 70 trials | 28 / 36 / 8 / 3 💬 | 76 76 drugs [ 18 18 drugs ] | 2 2 genes | 4 pathways | 117 117人年齢分布
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| 252 | リジン尿性蛋白不耐症 [代] 💬 "Lysinuric protein intolerance" | 0 - | 0 - | 0 - | 26 26人年齢分布
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| 253 | 先天性葉酸吸収不全 [代] 💬 "Congenital folate malabsorption", "Hereditary folate malabsorption", "Folate malabsorption" | 0 - | 0 - | 0 - | - |
| 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" | 85 85 trials | 13 / 22 / 40 / 1 💬 | 67 67 drugs [ 18 18 drugs ] | 18 18 genes | 28 pathways | 50 50人年齢分布
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| 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" | 2 2 trials | 1 / 1 / 0 / 0 💬 | 7 7 drugs [ 0 - ] | 0 - | 7 7人年齢分布
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| 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", "Pompe syndrome", "Alpha-1,4-glucosidase acid deficiency", "Glycogen storage disease type III", "GSDIII", "Cori disease", "Cori syndrome", "Forbes disease", "Forbes syndrome", "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", "Tarui syndrome", "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" | 204 204 trials | 30 / 56 / 63 / 29 💬 | 153 153 drugs [ 29 29 drugs ] | 19 19 genes | 59 pathways | 30 30人年齢分布
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| 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", "Cori syndrome", "Forbes disease", "Forbes syndrome", "Glycogen debranching enzyme deficiency", "Glycogen storage disease type VI", "GSDVI", "Hers disease", "Hers syndrome", "Hepatic phosphorylase deficiency", "Liver phosphorylase deficiency", "Glycogen storage disease type IX", "GSDIX", "Phosphorylase kinase deficiency", "Glycogen storage disease type IV", "GSDIV", "Andersen disease", "Glycogen-branching enzyme deficiency", "GBED", "Adult polyglucosan body disease" | 17 17 trials | 4 / 7 / 0 / 0 💬 | 32 32 drugs [ 8 8 drugs ] | 2 2 genes | 7 pathways | 120 120人年齢分布
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| 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 - | 1 1人年齢分布
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| 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", "Fish-eye disease", "FED" | 2 2 trials | 0 / 0 / 0 / 0 💬 | 3 3 drugs [ 1 1 drug ] | 0 - | 4 4人年齢分布
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| 260 | シトステロール血症 [代] 💬 "Sitosterolemia" | 13 13 trials | 0 / 1 / 4 / 0 💬 | 12 12 drugs [ 3 3 drugs ] | 1 1 gene | 1 pathway | 21 21人年齢分布
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| 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 9人年齢分布
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| 262 | 原発性高カイロミクロン血症 [代] 💬 "Primary hyperchylomicronemia" | 0 - | 0 - | 0 - | 65 65人年齢分布
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| 264 | 無βリポタンパク血症 [代] 💬 "Abetalipoproteinemia", "Microsomal triglyceride transfer protein deficiency", "MTP deficiency" | 1 1 trial | 0 / 0 / 0 / 0 💬 | 2 2 drugs [ 0 - ] | 0 - | 5 5人年齢分布
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| 316 | カルニチン回路異常症 [代] 💬 "Carnitine cycle disorder", "Disorders of carnitine transport and the carnitine cycle", "Carnitine palmitoyltransferase I deficiency", "CPT1 deficiency", "Carnitine palmitoyltransferase II deficiency", "CPT2 deficiency", "LC-FAOD", "Carnitine-acylcarnitine translocase deficiency", "CACT deficiency", "Primary Carnitine deficiency", "OCTN2 deficiency" | 4 4 trials | 0 / 1 / 1 / 0 💬 | 12 12 drugs [ 2 2 drugs ] | 2 2 genes | 11 pathways | 22 22人年齢分布
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| 317 | 三頭酵素欠損症 [代] 💬 "Trifunctional protein deficiency", "TFP deficiency", "LC-FAOD" | 4 4 trials | 0 / 0 / 0 / 0 💬 | 8 8 drugs [ 3 3 drugs ] | 1 1 gene | 1 pathway | 3 3人年齢分布
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| 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" | 5 5 trials | 1 / 1 / 0 / 0 💬 | 3 3 drugs [ 3 3 drugs ] | 0 - | 81 81人年齢分布
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| 319 | セピアプテリン還元酵素（SR）欠損症 [代] 💬 "Sepiapterin reductase deficiency" | 0 - | 0 - | 0 - | 2 2人年齢分布
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| 321 | 非ケトーシス型高グリシン血症 [代] 💬 "Non-ketotic hyperglycinemia", "Nonketotic hyperglycinemia", "NKH" | 1 1 trial | 0 / 0 / 0 / 0 💬 | 6 6 drugs [ 0 - ] | 0 - | 3 3人年齢分布
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| 322 | β－ケトチオラーゼ欠損症 [代] 💬 "Beta-ketothiolase deficiency" | 1 1 trial | 0 / 0 / 0 / 0 💬 | 6 6 drugs [ 0 - ] | 0 - | - |
| 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 / 1 / 1 / 0 💬 | 1 1 drug [ 0 - ] | 0 - | 4 4人年齢分布
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| 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" | 6 6 trials | 0 / 2 / 1 / 1 💬 | 10 10 drugs [ 3 3 drugs ] | 1 1 gene | 10 pathways | 1 1人年齢分布
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| 326 | 大理石骨病 [代] 💬 "Osteopetrosis", "Neonatal/infantile osteopetrosis", "Intermediate osteopetrosis", "Delayed-onset osteopetrosis" | 18 18 trials | 1 / 5 / 3 / 0 💬 | 47 47 drugs [ 12 12 drugs ] | 9 9 genes | 58 pathways | 22 22人年齢分布
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| 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 1人年齢分布
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| 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" | 23 23 trials | 6 / 9 / 2 / 0 💬 | 31 31 drugs [ 11 11 drugs ] | 3 3 genes | 26 pathways | 33 33人年齢分布
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| 344 | 極長鎖アシル-CoA 脱水素酵素欠損症 [代] 💬 "Very long-chain acyl-CoA dehydrogenase deficiency", "Very long-chain acyl-coenzyme A dehydrogenase deficiency", "Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency", "VLCAD deficiency", "VLCADD", "LC-FAOD" | 15 15 trials | 0 / 4 / 6 / 0 💬 | 25 25 drugs [ 4 4 drugs ] | 2 2 genes | 11 pathways | - |