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: 代謝系疾患  
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 (2020年度)
19ライソゾーム病 [] 💬
"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 trials 
 537 / 349 / 316 / 126 💬 
 716 drugs 
 [ 105 drugs
 70 genes 
 191 pathways 
(1) 911人
(2) 1,529人
年齢分布💬
20副腎白質ジストロフィー [] 💬
"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 trials 
 45 / 32 / 27 / 8 💬 
 88 drugs 
 [ 31 drugs
 23 genes 
 123 pathways 
(1) 193人
(2) 255人
年齢分布💬
21ミトコンドリア病 [] 💬
"Mitochondrial disease"
 33 trials 
 6 / 18 / 10 / 2 💬 
 42 drugs 
 [ 32 drugs
 47 genes 
 67 pathways 
(1) 1,087人
(2) 1,602人
年齢分布💬
28全身性アミロイドーシス [] 💬
"Systemic amyloidosis", "AL amyloidosis", "Immunoglobulin light chain amyloidosis", "Amyloid light-chain amyloidosis", "Familial amyloidosis", "Familial amyloid polyneuropathy", "Senile transthyretin amyloidosis", "Senile TTR amyloidosis", "Senile systemic amyloidosis"
 261 trials 
 95 / 115 / 103 / 13 💬 
 276 drugs 
 [ 81 drugs
 68 genes 
 178 pathways 
(1) 1,802人
(2) 3,892人
年齢分布💬
79家族性高コレステロール血症(ホモ接合体) [] 💬
"Homozygous familial hypercholesterolemia"
 142 trials 
 61 / 43 / 93 / 12 💬 
 114 drugs 
 [ 29 drugs
 9 genes 
 18 pathways 
(1) 140人
(2) 352人
年齢分布💬
169メンケス病 [] 💬
"Menkes disease"
 7 trials 
 2 / 2 / 1 / 0 💬 
 7 drugs 
 [ 4 drugs
 9 genes 
 14 pathways 
(1) 100人未満
(2) 1人
年齢分布💬
171ウィルソン病 [] 💬
"Wilson disease", "WD"
 68 trials 
 38 / 23 / 32 / 14 💬 
 79 drugs 
 [ 17 drugs
 3 genes 
 28 pathways 
(1) 約3,000人
(2) 695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。) [] 💬
"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 trials 
 30 / 22 / 19 / 5 💬 
 37 drugs 
 [ 12 drugs
 13 genes 
 44 pathways 
(1) 100人未満
(2) -
年齢分布💬
240フェニルケトン尿症 [] 💬
"Phenylketonuria", "PKU", "Phenylalanine hydroxylase deficiency", "PAH deficiency", "Tetrahydrobiopterin deficiency", "BH4 deficiency", "BH4 reactive hyper pheemia"
 138 trials 
 78 / 30 / 36 / 26 💬 
 106 drugs 
 [ 11 drugs
 1 gene 
 5 pathways 
(1) 約500人
(2) 248人
年齢分布💬
241高チロシン血症1型 [] 💬
"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 trials 
 4 / 1 / 1 / 1 💬 
 7 drugs 
 [ 1 drug
 1 gene 
 5 pathways 
(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 [] 💬
"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"
   (1) [告示番号241-243計]100人未満
(2) -
年齢分布💬
243高チロシン血症3型 [] 💬
"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"
   (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 [] 💬
"Maple syrup urine disease", "MSUD"
 1 trial 
 0 / 1 / 1 / 0 💬 
 1 drug 
 [ 1 drug
 (1) 約100人
(2) 12人
年齢分布💬
245プロピオン酸血症 [] 💬
"Propionic acidemia"
 13 trials 
 5 / 7 / 1 / 0 💬 
 17 drugs 
 [ 3 drugs
 1 gene 
 6 pathways 
(1) 約300人
(2) 12人
年齢分布💬
246メチルマロン酸血症 [] 💬
"Methylmalonic acidemia"
 19 trials 
 11 / 12 / 2 / 1 💬 
 26 drugs 
 [ 3 drugs
 17 genes 
 23 pathways 
(1) 約300人
(2) 24人
年齢分布💬
247イソ吉草酸血症 [] 💬
"Isovaleric acidemia", "Isovaleric aciduria", "Isovaleric acid CoA dehydrogenase deficiency"
   (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 [] 💬
"Glucose transporter type 1 deficiency", "GLUT1 deficiency"
 30 trials 
 43 / 21 / 9 / 8 💬 
 9 drugs 
 [ 1 drug
 (1) 100人未満
(2) 13人
年齢分布💬
249グルタル酸血症1型 [] 💬
"Glutaric acidemia type 1"
   (1) 100人未満
(2) 3人
年齢分布💬
250グルタル酸血症2型 [] 💬
"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"
   (1) 100人未満
(2) 6人
年齢分布💬
251尿素サイクル異常症 [] 💬
"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 trials 
 30 / 28 / 2 / 5 💬 
 52 drugs 
 [ 13 drugs
 4 genes 
 29 pathways 
(1) OTC欠損症  約500人
(2) 84人
年齢分布💬
252リジン尿性蛋白不耐症 [] 💬
"Lysinuric protein intolerance"
   (1) 100人未満
(2) 24人
年齢分布💬
253先天性葉酸吸収不全 [] 💬
"Congenital folate malabsorption", "Hereditary folate malabsorption", "Folate malabsorption"
   (1) 100人未満
(2) -
年齢分布💬
254ポルフィリン症 [] 💬
"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 trials 
 18 / 16 / 36 / 3 💬 
 54 drugs 
 [ 19 drugs
 19 genes 
 35 pathways 
(1) 約200人
(2) 41人
年齢分布💬
255複合カルボキシラーゼ欠損症 [] 💬
"Multiple carboxylase deficiency", "Holocarboxylase synthetase deficiency", "HCS deficiency", "Biotinidase deficiency"
 1 trial 
 1 / 1 / 0 / 0 💬 
 1 drug 
 [ - ] 
 (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) 5人
年齢分布💬
256筋型糖原病 [] 💬
"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 trials 
 90 / 59 / 68 / 35 💬 
 153 drugs 
 [ 30 drugs
 31 genes 
 134 pathways 
(1) 推定約3,000〜6,000人
(2) 25人
年齢分布💬
257肝型糖原病 [] 💬
"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 trials 
 4 / 7 / 0 / 0 💬 
 28 drugs 
 [ 7 drugs
 3 genes 
 8 pathways 
(1) 約1,200人 
(2) 92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 [] 💬
"Galactose-1-phosphate uridylyltransferase deficiency", "Galactose-1-phosphate uridyltransferase deficiency", "Galactosemia type 1", "GALT deficiency"
   (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 [] 💬
"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 trial 
 0 / 0 / 0 / 0 💬 
 2 drugs 
 [ 1 drug
 (1) 100人未満
(2) 4人
年齢分布💬
260シトステロール血症 [] 💬
"Sitosterolemia"
 13 trials 
 0 / 1 / 5 / 0 💬 
 13 drugs 
 [ 4 drugs
 1 gene 
 1 pathway 
(1) 100人未満  
(2) 18人
年齢分布💬
261タンジール病 [] 💬
"Tangier disease"
 1 trial 
 0 / 0 / 0 / 0 💬 
 2 drugs 
 [ 1 drug
 (1) 約100人未満
(2) 8人
年齢分布💬
262原発性高カイロミクロン血症 [] 💬
"Primary hyperchylomicronemia"
   (1) 約300人
(2) 31人
年齢分布💬
263脳腱黄色腫症 [] 💬
"Cerebrotendinous xanthomatosis", "27-hydroxylase deficiency", "CYP27 deficiency"
 5 trials 
 0 / 1 / 2 / 0 💬 
 10 drugs 
 [ 2 drugs
 2 genes 
 4 pathways 
(1) 100人未満 
(2) 44人
年齢分布💬
264無βリポタンパク血症 [] 💬
"Abetalipoproteinemia", "Microsomal triglyceride transfer protein deficiency", "MTP deficiency"
   (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) 5人
年齢分布💬
265脂肪萎縮症 [] 💬
"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 trials 
 33 / 34 / 21 / 31 💬 
 170 drugs 
 [ 61 drugs
 26 genes 
 97 pathways 
(1) 約100人
(2) 31人
年齢分布💬
316カルニチン回路異常症 [] 💬
"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 trials 
 0 / 1 / 1 / 0 💬 
 10 drugs 
 [ 4 drugs
 2 genes 
 11 pathways 
(1) 約960人
(2) 13人
年齢分布💬
317三頭酵素欠損症 [] 💬
"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 trials 
 0 / 0 / 0 / 0 💬 
 8 drugs 
 [ 4 drugs
 1 gene 
 1 pathway 
(1) 100人未満
(2) 3人
年齢分布💬
318シトリン欠損症 [] 💬
"Citrin deficiency", "Neonatal intrahepatic cholestasis caused by citrin deficiency", "NICCD", "Adult-onset type II citrullinemia", "CTLN2"
 2 trials 
 0 / 1 / 0 / 0 💬 
 2 drugs 
 [ 2 drugs
 (1) 約1,500人
(2) 51人
年齢分布💬
319セピアプテリン還元酵素(SR)欠損症 [] 💬
"Sepiapterin reductase deficiency"
   (1)
(2) 2人
年齢分布💬
321非ケトーシス型高グリシン血症 [] 💬
"Non-ketotic hyperglycinemia", "NKH", "Neonatal non-ketotic hyperglycinemia", "Neonatal NKH", "Infantile non-ketotic hyperglycinemia", "Infantile NKH"
 1 trial 
 0 / 0 / 0 / 0 💬 
 2 drugs 
 [ 2 drugs
 (1) 100人未満
(2) 1人
年齢分布💬
322β−ケトチオラーゼ欠損症 [] 💬
"Beta-ketothiolase deficiency"
   (1) 100人未満
(2) -
年齢分布💬
323芳香族L-アミノ酸脱炭酸酵素欠損症 [] 💬
"Aromatic L-amino acid decarboxylase deficiency"
 1 trial 
 0 / 0 / 0 / 0 💬 
 2 drugs 
 [ 1 drug
 3 genes 
 2 pathways 
(1) 100人未満(約10例)
(2) 3人
年齢分布💬
324メチルグルタコン酸尿症 [] 💬
"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 trials 
 5 / 2 / 2 / 1 💬 
 4 drugs 
 [ 3 drugs
 1 gene 
 10 pathways 
(1) 100人未満
(2) -
年齢分布💬
326大理石骨病 [] 💬
"Osteopetrosis", "Neonatal / infantile osteopetrosis", "Intermediate osteopetrosis", "Delayed-onset osteopetrosis"
 20 trials 
 5 / 13 / 4 / 0 💬 
 51 drugs 
 [ 14 drugs
 17 genes 
 81 pathways 
(1) 約100人
(2) 21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) [] 💬
"Familial hypobetalipoproteinemia 1", "FHBL1"
   (1) 100万人あたり1人以下(わが国では、数家系のみ)
(2) -
年齢分布💬
337ホモシスチン尿症 [] 💬
"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 trials 
 5 / 9 / 0 / 0 💬 
 13 drugs 
 [ 4 drugs
 2 genes 
 23 pathways 
(1) Ⅰ型、CBS欠損症:約200人;Ⅱ型:100人未満;Ⅲ型:100人未満
(2) -
年齢分布💬