Disease The intractable diseases designated by MHLW, Japan
Diseases : 338 - Clinical trials : 34,520 / Drugs : 19,957 - ( DrugBank : 2,195 ) / Drug target genes : 613 - Drug target pathways : 297
Disease group: Metabolic diseases| ID | Disease name [Group] | Clinical trial Phase 1 / 2 / 3 / 4 | Drug [ DrugBank ] | Target gene Target pathway | Domestic patients (1) MHLW, (2) Med expenses recipients (FY2021) |
|---|---|---|---|---|---|
| 19 | Lysosomal storage disease [Met] 💬 "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" | 899 899 trials 549 / 383 / 342 / 126 💬 | 684 684 drugs [ 99 99 drugs ] | 51 51 genes 182 pathways | 1582 (1) 911 patients (2) 1,582 patients Age distribution  💬 |
| 20 | Adrenoleukodystrophy [Met] 💬 "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)" | 61 61 trials 42 / 36 / 28 / 7 💬 | 90 90 drugs [ 31 31 drugs ] | 23 23 genes 126 pathways | 252 (1) 193 patients (2) 252 patients Age distribution  💬 |
| 21 | Mitochondrial disease [Met] 💬 | 39 39 trials 7 / 21 / 15 / 2 💬 | 42 42 drugs [ 32 32 drugs ] | 47 47 genes 67 pathways | 1608 (1) 1,087 patients (2) 1,608 patients Age distribution  💬 |
| 28 | Systemic amyloidosis [Met] 💬 "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" | 267 267 trials 82 / 116 / 111 / 11 💬 | 241 241 drugs [ 77 77 drugs ] | 68 68 genes 180 pathways | 4588 (1) 1,802 patients (2) 4,588 patients Age distribution  💬 |
| 79 | Homozygous familial hypercholesterolemia [Met] 💬 | 145 145 trials 51 / 42 / 94 / 10 💬 | 114 114 drugs [ 26 26 drugs ] | 8 8 genes 17 pathways | 371 (1) 140 patients (2) 371 patients Age distribution  💬 |
| 169 | Menkes disease [Met] 💬 | 6 6 trials 2 / 2 / 1 / 0 💬 | 6 6 drugs [ 4 4 drugs ] | 9 9 genes 14 pathways | 1 (1) Less than 100 patients (2) 1 patient Age distribution  💬 |
| 171 | Wilson disease [Met] 💬 "WD" | 79 79 trials 42 / 24 / 32 / 15 💬 | 77 77 drugs [ 17 17 drugs ] | 6 6 genes 30 pathways | 715 (1) About 3,000 patients (2) 715 patients Age distribution  💬 |
| 234 | Peroxisomal disease (except Adrenoleukodystrophy) [Met] 💬 "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" | 39 39 trials 30 / 21 / 18 / 5 💬 | 35 35 drugs [ 12 12 drugs ] | 13 13 genes 45 pathways | (1) Less than 100 patients (2) - |
| 240 | Phenylketonuria [Met] 💬 "PKU", "Phenylalanine hydroxylase deficiency", "PAH deficiency", "Tetrahydrobiopterin deficiency", "BH4 deficiency", "BH4 reactive hyper pheemia" | 143 143 trials 79 / 31 / 43 / 26 💬 | 90 90 drugs [ 10 10 drugs ] | 1 1 gene 5 pathways | 264 (1) About 500 patients (2) 264 patients Age distribution  💬 |
| 241 | Hypertyrosinemia type I [Met] 💬 "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 14 trials 4 / 1 / 1 / 1 💬 | 7 7 drugs [ 1 1 drug ] | 1 1 gene 5 pathways | 2 (1) [Disease ID 241-243 total] Less than 100 patients (2) 2 patients Age distribution  💬 |
| 242 | Hypertyrosinemia type II [Met] 💬 "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" | 0 - | 0 - | 0 - | (1) [Disease ID 241-243 total] Less than 100 patients (2) - |
| 243 | Hypertyrosinemia type III [Met] 💬 "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" | 0 - | 0 - | 0 - | 1 (1) [Disease ID 241-243 total] Less than 100 patients (2) 1 patient Age distribution  💬 |
| 244 | Maple syrup urine disease [Met] 💬 "MSUD" | 1 1 trial 0 / 1 / 1 / 0 💬 | 1 1 drug [ 1 1 drug ] | 0 - | 13 (1) About 100 patients (2) 13 patients Age distribution  💬 |
| 245 | Propionic acidemia [Met] 💬 | 13 13 trials 5 / 7 / 1 / 0 💬 | 16 16 drugs [ 3 3 drugs ] | 1 1 gene 6 pathways | 15 (1) About 300 patients (2) 15 patients Age distribution  💬 |
| 246 | Methylmalonic acidemia [Met] 💬 | 23 23 trials 13 / 15 / 2 / 2 💬 | 31 31 drugs [ 8 8 drugs ] | 17 17 genes 23 pathways | 30 (1) About 300 patients (2) 30 patients Age distribution  💬 |
| 247 | Isovaleric acidemia [Met] 💬 "Isovaleric aciduria", "Isovaleric acid CoA dehydrogenase deficiency" | 0 - | 0 - | 0 - | 3 (1) Less than 100 patients (2) 3 patients Age distribution  💬 |
| 248 | Glucose transporter type 1 deficiency [Met] 💬 "GLUT1 deficiency" | 29 29 trials 43 / 20 / 9 / 8 💬 | 9 9 drugs [ 1 1 drug ] | 0 - | 14 (1) Less than 100 patients (2) 14 patients Age distribution  💬 |
| 249 | Glutaric acidemia type 1 [Met] 💬 | 0 - | 0 - | 0 - | 4 (1) Less than 100 patients (2) 4 patients Age distribution  💬 |
| 250 | Glutaric acidemia type 2 [Met] 💬 "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" | 0 - | 0 - | 0 - | 7 (1) Less than 100 patients (2) 7 patients Age distribution  💬 |
| 251 | Urea cycle disorder [Met] 💬 "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" | 54 54 trials 31 / 31 / 6 / 5 💬 | 61 61 drugs [ 15 15 drugs ] | 3 3 genes 28 pathways | 92 (1) OTC deficiency: About 500 patients; CPSI deficiency: About 100 patients; Argininosuccinic aciduria: About 100 patients; Other urea cycle disorders: Less than 100 patients; (2) 92 patients Age distribution  💬 |
| 252 | Lysinuric protein intolerance [Met] 💬 | 0 - | 0 - | 0 - | 27 (1) Less than 100 patients (2) 27 patients Age distribution  💬 |
| 253 | Congenital folate malabsorption [Met] 💬 "Hereditary folate malabsorption", "Folate malabsorption" | 0 - | 0 - | 0 - | (1) Less than 100 patients (2) - |
| 254 | Porphyria [Met] 💬 "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" | 72 72 trials 19 / 17 / 38 / 3 💬 | 53 53 drugs [ 16 16 drugs ] | 19 19 genes 35 pathways | 47 (1) About 200 patients (2) 47 patients Age distribution  💬 |
| 255 | Multiple carboxylase deficiency [Met] 💬 "Holocarboxylase synthetase deficiency", "HCS deficiency", "Biotinidase deficiency" | 1 1 trial 1 / 1 / 0 / 0 💬 | 1 1 drug [ 0 - ] | 0 - | 6 (1) HCS deficiency: 1 / 1,000,000 occurrence in Japan; Biotinidase deficiency: a few cases reported; (2) 6 patients Age distribution  💬 |
| 256 | Muscle glycogenosis [Met] 💬 "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" | 180 180 trials 81 / 57 / 68 / 34 💬 | 133 133 drugs [ 29 29 drugs ] | 25 25 genes 105 pathways | 22 (1) About 3,000~6,000 patients estimated (2) 22 patients Age distribution  💬 |
| 257 | Hepatic glycogenosis [Met] 💬 "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 14 trials 4 / 7 / 0 / 0 💬 | 27 27 drugs [ 7 7 drugs ] | 3 3 genes 8 pathways | 101 (1) About 1,200 patients (2) 101 patients Age distribution  💬 |
| 258 | Galactose-1-phosphate uridylyltransferase deficiency [Met] 💬 "Galactose-1-phosphate uridyltransferase deficiency", "Galactosemia type 1", "GALT deficiency" | 0 - | 0 - | 0 - | 2 (1) Less than 100 patients (2) 2 patients Age distribution  💬 |
| 259 | Lecithin-cholesterol acyltransferase deficiency [Met] 💬 "LCAT deficiency", "Classical lecithin-cholesterol acyltransferase deficiency", "Classical LCAT deficiency", "Partial lecithin-cholesterol acyltransferase deficiency", "Partial LCAT deficiency", "Fish-eye disease" | 1 1 trial 0 / 0 / 0 / 0 💬 | 1 1 drug [ 0 - ] | 0 - | 4 (1) Less than 100 patients (2) 4 patients Age distribution  💬 |
| 260 | Sitosterolemia [Met] 💬 | 12 12 trials 0 / 1 / 5 / 0 💬 | 11 11 drugs [ 3 3 drugs ] | 1 1 gene 1 pathway | 24 (1) Less than 100 patients (2) 24 patients Age distribution  💬 |
| 261 | Tangier disease [Met] 💬 | 0 - | 0 - | 0 - | 9 (1) Less than 100 patients (2) 9 patients Age distribution  💬 |
| 262 | Primary hyperchylomicronemia [Met] 💬 | 0 - | 0 - | 0 - | 46 (1) About 300 patients (2) 46 patients Age distribution  💬 |
| 263 | Cerebrotendinous xanthomatosis [Met] 💬 "27-hydroxylase deficiency", "CYP27 deficiency" | 6 6 trials 0 / 1 / 2 / 0 💬 | 11 11 drugs [ 2 2 drugs ] | 2 2 genes 4 pathways | 48 (1) Less than 100 patients (2) 48 patients Age distribution  💬 |
| 264 | Abetalipoproteinemia [Met] 💬 "Microsomal triglyceride transfer protein deficiency", "MTP deficiency" | 0 - | 0 - | 0 - | 4 (1) Less than 100 patients (Only a few pedigrees in Japan since the first report in 1,983) (2) 4 patients Age distribution  💬 |
| 265 | Lipodystrophy [Met] 💬 "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" | 112 112 trials 33 / 34 / 20 / 30 💬 | 155 155 drugs [ 55 55 drugs ] | 25 25 genes 97 pathways | 33 (1) About 100 patients (2) 33 patients Age distribution  💬 |
| 316 | Carnitine cycle disorder [Met] 💬 "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 💬 | 10 10 drugs [ 4 4 drugs ] | 2 2 genes 11 pathways | 19 (1) About 960 patients (2) 19 patients Age distribution  💬 |
| 317 | Trifunctional protein deficiency [Met] 💬 "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" | 4 4 trials 1 / 0 / 0 / 0 💬 | 9 9 drugs [ 4 4 drugs ] | 1 1 gene 1 pathway | 4 (1) Less than 100 patients (2) 4 patients Age distribution  💬 |
| 318 | Citrin deficiency [Met] 💬 "Neonatal intrahepatic cholestasis caused by citrin deficiency", "NICCD", "Adult-onset type II citrullinemia", "CTLN2" | 2 2 trials 0 / 1 / 0 / 0 💬 | 2 2 drugs [ 2 2 drugs ] | 0 - | 62 (1) About 1,500 patients (2) 62 patients Age distribution  💬 |
| 319 | Sepiapterin reductase deficiency [Met] 💬 | 0 - | 0 - | 0 - | 2 (1) Less than 100 patients (About one patient) (2) 2 patients Age distribution  💬 |
| 321 | Non-ketotic hyperglycinemia [Met] 💬 "NKH", "Neonatal non-ketotic hyperglycinemia", "Neonatal NKH", "Infantile non-ketotic hyperglycinemia", "Infantile NKH" | 1 1 trial 0 / 0 / 0 / 0 💬 | 2 2 drugs [ 2 2 drugs ] | 0 - | 2 (1) Less than 100 patients (2) 2 patients Age distribution  💬 |
| 322 | Beta-ketothiolase deficiency [Met] 💬 | 0 - | 0 - | 0 - | (1) Less than 100 patients (2) - |
| 323 | Aromatic L-amino acid decarboxylase deficiency [Met] 💬 | 0 - | 0 - | 0 - | 4 (1) Less than 100 patients (About 10 cases) (2) 4 patients Age distribution  💬 |
| 324 | Methylglutaconic aciduria [Met] 💬 "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 4 trials 5 / 2 / 2 / 1 💬 | 4 4 drugs [ 3 3 drugs ] | 1 1 gene 10 pathways | 1 (1) Less than 100 patients (2) 1 patient Age distribution  💬 |
| 326 | Osteopetrosis [Met] 💬 "Neonatal / infantile osteopetrosis", "Intermediate osteopetrosis", "Delayed-onset osteopetrosis" | 18 18 trials 4 / 12 / 4 / 0 💬 | 43 43 drugs [ 14 14 drugs ] | 17 17 genes 82 pathways | 23 (1) About 100 patients (2) 23 patients Age distribution  💬 |
| 336 | Familial hypobetalipoproteinemia 1 [Met] 💬 "FHBL1" | 0 - | 0 - | 0 - | (1) Several families only (2) - |
| 337 | Homocystinuria [Met] 💬 "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" | 16 16 trials 6 / 9 / 0 / 1 💬 | 19 19 drugs [ 7 7 drugs ] | 2 2 genes 23 pathways | 11 (1) Type I (CBS deficiency): About 200 patients; Type II: Less than 100 patients; Type III: Less than 100 patients (2) 11 patients Age distribution  💬 |