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

ID	Disease name [Group]	Clinical trial Phase 1 / 2 / 3 / 4	Drug [ DrugBank ]	Target gene Target pathway	Domestic patients Med expenses recipients (FY2022)
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 trials    | 549 / 383 / 342 / 126 💬	684 drugs   [ 99 drugs ]	51 genes   182 pathways	1,672 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 trials    | 42 / 36 / 28 / 7 💬	90 drugs   [ 31 drugs ]	23 genes   126 pathways	253 patients Age distribution💬
21	Mitochondrial disease [Met] 💬	39 trials    | 7 / 21 / 15 / 2 💬	42 drugs   [ 32 drugs ]	47 genes   67 pathways	1,630 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 trials    | 82 / 116 / 111 / 11 💬	241 drugs   [ 77 drugs ]	68 genes   180 pathways	5,587 patients Age distribution💬
79	Homozygous familial hypercholesterolemia [Met] 💬	145 trials    | 51 / 42 / 94 / 10 💬	114 drugs   [ 26 drugs ]	8 genes   17 pathways	398 patients Age distribution💬
169	Menkes disease [Met] 💬	6 trials    | 2 / 2 / 1 / 0 💬	6 drugs   [ 4 drugs ]	9 genes   14 pathways	1 patient Age distribution💬
171	Wilson disease [Met] 💬 "WD"	79 trials    | 42 / 24 / 32 / 15 💬	77 drugs   [ 17 drugs ]	6 genes   30 pathways	735 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 trials    | 30 / 21 / 18 / 5 💬	35 drugs   [ 12 drugs ]	13 genes   45 pathways	1 patient Age distribution💬
240	Phenylketonuria [Met] 💬 "PKU", "Phenylalanine hydroxylase deficiency", "PAH deficiency", "Tetrahydrobiopterin deficiency", "BH4 deficiency", "BH4 reactive hyper pheemia"	143 trials    | 79 / 31 / 43 / 26 💬	90 drugs   [ 10 drugs ]	1 gene   5 pathways	280 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 trials    | 4 / 1 / 1 / 1 💬	7 drugs   [ 1 drug ]	1 gene   5 pathways	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"	-	-	-	1 patient Age distribution💬
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"	-	-	-	1 patient Age distribution💬
244	Maple syrup urine disease [Met] 💬 "MSUD"	1 trial    | 0 / 1 / 1 / 0 💬	1 drug   [ 1 drug ]	-	16 patients Age distribution💬
245	Propionic acidemia [Met] 💬	13 trials    | 5 / 7 / 1 / 0 💬	16 drugs   [ 3 drugs ]	1 gene   6 pathways	16 patients Age distribution💬
246	Methylmalonic acidemia [Met] 💬	23 trials    | 13 / 15 / 2 / 2 💬	31 drugs   [ 8 drugs ]	17 genes   23 pathways	33 patients Age distribution💬
247	Isovaleric acidemia [Met] 💬 "Isovaleric aciduria", "Isovaleric acid CoA dehydrogenase deficiency"	-	-	-	4 patients Age distribution💬
248	Glucose transporter type 1 deficiency [Met] 💬 "GLUT1 deficiency"	29 trials    | 43 / 20 / 9 / 8 💬	9 drugs   [ 1 drug ]	-	21 patients Age distribution💬
249	Glutaric acidemia type 1 [Met] 💬	-	-	-	7 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"	-	-	-	8 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 trials    | 31 / 31 / 6 / 5 💬	61 drugs   [ 15 drugs ]	3 genes   28 pathways	102 patients Age distribution💬
252	Lysinuric protein intolerance [Met] 💬	-	-	-	25 patients Age distribution💬
253	Congenital folate malabsorption [Met] 💬 "Hereditary folate malabsorption", "Folate malabsorption"	-	-	-	-
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 trials    | 19 / 17 / 38 / 3 💬	53 drugs   [ 16 drugs ]	19 genes   35 pathways	48 patients Age distribution💬
255	Multiple carboxylase deficiency [Met] 💬 "Holocarboxylase synthetase deficiency", "HCS deficiency", "Biotinidase deficiency"	1 trial    | 1 / 1 / 0 / 0 💬	1 drug   [ - ]	-	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 trials    | 81 / 57 / 68 / 34 💬	133 drugs   [ 29 drugs ]	25 genes   105 pathways	26 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 trials    | 4 / 7 / 0 / 0 💬	27 drugs   [ 7 drugs ]	3 genes   8 pathways	105 patients Age distribution💬
258	Galactose-1-phosphate uridylyltransferase deficiency [Met] 💬 "Galactose-1-phosphate uridyltransferase deficiency", "Galactosemia type 1", "GALT deficiency"	-	-	-	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 trial    | 0 / 0 / 0 / 0 💬	1 drug   [ - ]	-	3 patients Age distribution💬
260	Sitosterolemia [Met] 💬	12 trials    | 0 / 1 / 5 / 0 💬	11 drugs   [ 3 drugs ]	1 gene   1 pathway	22 patients Age distribution💬
261	Tangier disease [Met] 💬	-	-	-	9 patients Age distribution💬
262	Primary hyperchylomicronemia [Met] 💬	-	-	-	55 patients Age distribution💬
264	Abetalipoproteinemia [Met] 💬 "Microsomal triglyceride transfer protein deficiency", "MTP deficiency"	-	-	-	3 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 trials    | 0 / 1 / 1 / 0 💬	10 drugs   [ 4 drugs ]	2 genes   11 pathways	20 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 trials    | 1 / 0 / 0 / 0 💬	9 drugs   [ 4 drugs ]	1 gene   1 pathway	4 patients Age distribution💬
318	Citrin deficiency [Met] 💬 "Neonatal intrahepatic cholestasis caused by citrin deficiency", "NICCD", "Adult-onset type II citrullinemia", "CTLN2"	2 trials    | 0 / 1 / 0 / 0 💬	2 drugs   [ 2 drugs ]	-	64 patients Age distribution💬
319	Sepiapterin reductase deficiency [Met] 💬	-	-	-	2 patients Age distribution💬
321	Non-ketotic hyperglycinemia [Met] 💬 "NKH", "Neonatal non-ketotic hyperglycinemia", "Neonatal NKH", "Infantile non-ketotic hyperglycinemia", "Infantile NKH"	1 trial    | 0 / 0 / 0 / 0 💬	2 drugs   [ 2 drugs ]	-	3 patients Age distribution💬
322	Beta-ketothiolase deficiency [Met] 💬	-	-	-	-
323	Aromatic L-amino acid decarboxylase deficiency [Met] 💬	-	-	-	5 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 trials    | 5 / 2 / 2 / 1 💬	4 drugs   [ 3 drugs ]	1 gene   10 pathways	1 patient Age distribution💬
326	Osteopetrosis [Met] 💬 "Neonatal / infantile osteopetrosis", "Intermediate osteopetrosis", "Delayed-onset osteopetrosis"	18 trials    | 4 / 12 / 4 / 0 💬	43 drugs   [ 14 drugs ]	17 genes   82 pathways	21 patients Age distribution💬
336	Familial hypobetalipoproteinemia 1 [Met] 💬 "FHBL1"	-	-	-	1 patient Age distribution💬
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 trials    | 6 / 9 / 0 / 1 💬	19 drugs   [ 7 drugs ]	2 genes   23 pathways	24 patients Age distribution💬