Disease 指定難病
疾患数 : 348 - 臨床試験総数 : 39,610 / 薬物総数 : 18,765 - ( DrugBank : 2,435 ) / 標的遺伝子総数 : 703 - 標的パスウェイ総数 : 305
| 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" | 990 990 trials | 222 / 383 / 340 / 62 💬 | 584 584 drugs [ 126 126 drugs ] | 62 62 genes | 192 pathways | 1756 1,756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" | 68 68 trials | 10 / 29 / 29 / 1 💬 | 74 74 drugs [ 32 32 drugs ] | 25 25 genes | 131 pathways | 268 268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" | 94 94 trials | 13 / 44 / 31 / 1 💬 | 75 75 drugs [ 31 31 drugs ] | 51 51 genes | 106 pathways | 1671 1,671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", "Hereditary transthyretin amyloidosis", "Familial amyloidosis", "Familial amyloid polyneuropathy", "FAP", "Hereditary systemic amyloidosis" | 335 335 trials | 47 / 129 / 139 / 4 💬 | 274 274 drugs [ 86 86 drugs ] | 47 47 genes | 165 pathways | 6817 6,817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 hypercholesterolaemia" | 192 192 trials | 7 / 36 / 119 / 4 💬 | 98 98 drugs [ 33 33 drugs ] | 12 12 genes | 21 pathways | 413 413人年齢分布
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| 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 | 16 pathways | 2 2人年齢分布
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| 171 | ウィルソン病 [代] 💬 "Wilson disease", "WD" | 86 86 trials | 13 / 22 / 30 / 9 💬 | 68 68 drugs [ 16 16 drugs ] | 7 7 genes | 33 pathways | 779 779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 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", "Primary hyperoxaluria type 1", "PH1", "Primary hyperoxaluria", "Acatalasemia", "Acatalasia", "Takahara disease" | 115 115 trials | 20 / 42 / 44 / 0 💬 | 59 59 drugs [ 20 20 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" | 173 173 trials | 19 / 26 / 50 / 17 💬 | 95 95 drugs [ 13 13 drugs ] | 1 1 gene | 3 pathways | 298 298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 💬 | 6 6 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" | 3 3 trials | 0 / 1 / 1 / 0 💬 | 4 4 drugs [ 3 3 drugs ] | 0 - | 16 16人年齢分布
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| 245 | プロピオン酸血症 [代] 💬 "Propionic acidemia" | 15 15 trials | 5 / 8 / 1 / 0 💬 | 13 13 drugs [ 6 6 drugs ] | 1 1 gene | 3 pathways | 17 17人年齢分布
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| 246 | メチルマロン酸血症 [代] 💬 "Methylmalonic acidemia", "MMA" | 28 28 trials | 10 / 14 / 0 / 1 💬 | 25 25 drugs [ 9 9 drugs ] | 18 18 genes | 26 pathways | 33 33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" | 1 1 trial | 0 / 0 / 0 / 0 💬 | 1 1 drug [ 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" | 29 29 trials | 3 / 17 / 5 / 0 💬 | 8 8 drugs [ 1 1 drug ] | 0 - | 23 23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 - | 7 7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 - | 12 12人年齢分布
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| 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" | 68 68 trials | 27 / 36 / 8 / 3 💬 | 50 50 drugs [ 19 19 drugs ] | 2 2 genes | 4 pathways | 104 104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（症） [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" | 79 79 trials | 11 / 20 / 39 / 1 💬 | 44 44 drugs [ 17 17 drugs ] | 19 19 genes | 35 pathways | 47 47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" | 1 1 trial | 1 / 1 / 0 / 0 💬 | 1 1 drug [ 0 - ] | 0 - | 6 6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", "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" | 193 193 trials | 28 / 53 / 63 / 28 💬 | 97 97 drugs [ 28 28 drugs ] | 19 19 genes | 93 pathways | 28 28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", "Forbes disease", "Glycogen debranching enzyme deficiency", "Glycogen storage disease type VI", "GSDVI", "Hers disease", "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" | 16 16 trials | 4 / 7 / 0 / 0 💬 | 22 22 drugs [ 9 9 drugs ] | 2 2 genes | 7 pathways | 116 116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" | 2 2 trials | 0 / 0 / 0 / 0 💬 | 2 2 drugs [ 0 - ] | 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 💬 | 7 7 drugs [ 1 1 drug ] | 1 1 gene | 1 pathway | 19 19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 💬 | 1 1 drug [ 0 - ] | 0 - | 10 10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 - | 62 62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 💬 | 1 1 drug [ 0 - ] | 0 - | 4 4人年齢分布
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| 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 💬 | 5 5 drugs [ 2 2 drugs ] | 1 1 gene | 10 pathways | 20 20人年齢分布
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| 317 | 三頭酵素欠損症 [代] 💬 "Trifunctional protein deficiency", "TFP deficiency" | 4 4 trials | 0 / 0 / 0 / 0 💬 | 6 6 drugs [ 3 3 drugs ] | 0 - | 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" | 1 1 trial | 0 / 1 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 0 - | 70 70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", "NKH" | 0 - | 0 - | 0 - | 2 2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" | 0 - | 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 | 1 / 0 / 0 / 0 💬 | 1 1 drug [ 0 - ] | 0 - | 5 5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" | 4 4 trials | 0 / 2 / 1 / 0 💬 | 3 3 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 💬 | 37 37 drugs [ 16 16 drugs ] | 25 25 genes | 93 pathways | 18 18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" | 21 21 trials | 6 / 9 / 2 / 0 💬 | 22 22 drugs [ 10 10 drugs ] | 4 4 genes | 32 pathways | 29 29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" | 6 6 trials | 0 / 2 / 0 / 0 💬 | 10 10 drugs [ 2 2 drugs ] | 1 1 gene | 10 pathways | - |