139. Congenital cerebral hypomyelination Disease details / Clinical trials / Drug dev / DR info
Clinical trials : 10 / Drugs : 7 - (DrugBank : 2) / Drug target genes : 2 - Drug target pathways : 2
| Previous names | - | ||
|---|---|---|---|
| Other names | Congenital cerebral white matter aplasia; | ||
| Disease group | Neuromuscular 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), (7), (8), (9), (10), (11) | ||
| Specific pediatric chronic diseases, Japan (in Japanese) | 11-8-26. congenital hypomyelinating leukodystrophy | ||
| Subtypes | No. | Name | Specific pediatric chronic diseases, Japan (in Japanese) |
| 139-1. | Pelizaeus-Merzbacher disease; | ||
| 139-2. | Pelizaeus-Merzbacher-like disease 1;Pelizaeus-Merzbacher-like disease type 1; | ||
| 139-3. | Hypomyelination with atrophy of the basal ganglia and cerebellum; | ||
| 139-4. | 18q-syndrome;Chromosome 18q deletion syndrome; | ||
| 139-5. | Allan-Herndon-Dudley syndrome; | ||
| 139-6. | Mitochondrial Hsp60 chaperonopathy; | ||
| 139-7. | Salla disease;Free sialic acid storage disease; | 8-6-100. Free Sialic Acid Storage Disease; Salla Disease; infantile Free Sialic Acid Storage Disease | |
| 139-8. | Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum; | ||
| 139-9. | Hypomyelination and congenital cataract; | ||
| 139-10. | Ataxia, delayed dentition, and hypomyelination; | ||
| 139-11. | Peripheral demyelinating neuropathy; | ||
| 139-12. | Central dysmyelinating leukodystrophy; | ||
| 139-13. | Waardenburg syndrome; | ||
| 139-14. | Hirschsprung disease; | 12-14-38. Hirschsprung disease | |