234. Peroxisomal disease (except Adrenoleukodystrophy) Disease details / Clinical trials / Drug dev / DR info
Clinical trials : 39 / Drugs : 35 - (DrugBank : 12) / Drug target genes : 13 - Drug target pathways : 45
Previous names | - | ||
---|---|---|---|
Other names | Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder; | ||
Disease group | Metabolic diseases | ||
Related info (in Japanese) | - | ||
Designated intractable diseases (in Japanese) | Overview, Diagnostic criteria, etc. (docx), Clinical research form (pdf) (1), (2), (3), (4), (5), (6) | ||
Specific pediatric chronic diseases, Japan (in Japanese) | 8-2-35. Primary hyperoxaluria | ||
8-7-106. Other peroxisomal diseases | |||
Subtypes | No. | Name | Specific pediatric chronic diseases, Japan (in Japanese) |
234-1. | Peroxisome biogenesis disorder;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1; | 8-7-103. Peroxisome Biogenesis Disorders | |
234-2. | 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; | ||
234-3. | Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3; | ||
234-4. | Refsum disease; | 8-7-105. Refsum disease | |
234-5. | Primary hyperoxaluria type 1;PH1; | 8-2-35. Primary hyperoxaluria | |
234-6. | Acatalasemia;Acatalasia;Takahara disease; | ||
234-7. | Contiguous ABCD1/DXS1357E deletion syndrome;CADDS; |