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
Showing 1 to 10 of 43 diseases
ID | Disease name [Group] | Clinical trial Phase 1 / 2 / 3 / 4 | Drug [ DrugBank ] | Target gene Target pathway | Domestic patients Med expenses recipients (FY2022) | ||||||||||||||||||||
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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" "Lysosomal disease", "Gaucher disease", "Niemann-Pick disease type A/B", "Niemann-Pick type A", "NPD ... | 899 899 trials | 549 / 383 / 342 / 126 💬 | 684 684 drugs [ 99 99 drugs ] | 51 51 genes 182 pathways | 1672 1,672 patientsAge distribution ![]() 19. Lysosomal storage disease
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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)" "ALD", "Childhood cerebral adrenoleukodystrophy", "Childhood cerebral ALD", "CCALD", "Adolescent cer ... | 61 61 trials | 42 / 36 / 28 / 7 💬 | 90 90 drugs [ 31 31 drugs ] | 23 23 genes 126 pathways | 253 253 patientsAge distribution ![]() 20. Adrenoleukodystrophy
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21 | Mitochondrial disease [Met] 💬 | 39 39 trials | 7 / 21 / 15 / 2 💬 | 42 42 drugs [ 32 32 drugs ] | 47 47 genes 67 pathways | 1630 1,630 patientsAge distribution ![]() 21. Mitochondrial disease
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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" "AL amyloidosis", "Immunoglobulin light chain amyloidosis", "Amyloid light-chain amyloidosis", "Immu ... | 267 267 trials | 82 / 116 / 111 / 11 💬 | 241 241 drugs [ 77 77 drugs ] | 68 68 genes 180 pathways | 5587 5,587 patientsAge distribution ![]() 28. Systemic amyloidosis
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79 | Homozygous familial hypercholesterolemia [Met] 💬 | 145 145 trials | 51 / 42 / 94 / 10 💬 | 114 114 drugs [ 26 26 drugs ] | 8 8 genes 17 pathways | 398 398 patientsAge distribution ![]() 79. Homozygous familial hypercholesterolemia
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169 | Menkes disease [Met] 💬 | 6 6 trials | 2 / 2 / 1 / 0 💬 | 6 6 drugs [ 4 4 drugs ] | 9 9 genes 14 pathways | 1 1 patientAge distribution ![]() 169. Menkes disease
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171 | Wilson disease [Met] 💬 "WD" | 79 79 trials | 42 / 24 / 32 / 15 💬 | 77 77 drugs [ 17 17 drugs ] | 6 6 genes 30 pathways | 735 735 patientsAge distribution ![]() 171. Wilson disease
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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" "Peroxisomal disease", "Peroxisomal disorder", "Peroxisome biogenesis disorder", "PEX gene disorder" ... | 39 39 trials | 30 / 21 / 18 / 5 💬 | 35 35 drugs [ 12 12 drugs ] | 13 13 genes 45 pathways | 1 1 patientAge distribution ![]() 234. Peroxisomal disease (except Adrenoleukodystrophy)
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240 | Phenylketonuria [Met] 💬 "PKU", "Phenylalanine hydroxylase deficiency", "PAH deficiency", "Tetrahydrobiopterin deficiency", "BH4 deficiency", "BH4 reactive hyper pheemia" "PKU", "Phenylalanine hydroxylase deficiency", "PAH deficiency", "Tetrahydrobiopterin deficiency", " ... | 143 143 trials | 79 / 31 / 43 / 26 💬 | 90 90 drugs [ 10 10 drugs ] | 1 1 gene 5 pathways | 280 280 patientsAge distribution ![]() 240. Phenylketonuria
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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" "Tyrosinemia type I", "Tyrosinemia I", "Hereditary tyrosinemia, Type I", "Fumarylacetoacetate hydrol ... | 14 14 trials | 4 / 1 / 1 / 1 💬 | 7 7 drugs [ 1 1 drug ] | 1 1 gene 5 pathways | 2 2 patientsAge distribution ![]() 241. Hypertyrosinemia type I
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