234. Peroxisomal disease (except Adrenoleukodystrophy) Disease details / Clinical trials / Drug dev / DR info
Clinical trials : 115 / Drugs : 59 - (DrugBank : 20) / Drug target genes : 15 - Drug target pathways : 50
| Other names | Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS; | ||
|---|---|---|---|
| Disease group | Metabolic diseases | ||
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Domestic patients
Med expenses recipients (FY2023) |
3 patients Age distribution
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| Related info (in Japanese) | - | ||
| Clinical research form [April 1, 2025 ~] (in Japanese) | Overview, diagnostic criteria, etc. (pdf), Clinical research form (pdf) 234-01, 234-02, 234-03, 234-04, 234-05, 234-06 | ||
| Specific pediatric chronic diseases, Japan (in Japanese) | 8-7-106. Other peroxisomal diseases | ||
| Subtypes | No. | Name | Specific pediatric chronic diseases, Japan (in Japanese) |
| 234-1. | Peroxisome biogenesis disorder;PBD;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;Primary hyperoxaluria; | 8-2-35. Primary hyperoxaluria | |
| 234-6. | Acatalasemia;Acatalasia;Takahara disease; | ||