139. Congenital cerebral hypomyelination Disease details / Clinical trials / Drug dev / DR info

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Clinical trials : 10 /  Drugs : 7 - (DrugBank : 2) / Drug target genes : 2 - Drug target pathways : 2

Other names	Congenital cerebral white matter aplasia;
Disease group	Neuromuscular diseases
Domestic patients Med expenses recipients (FY2023)	47 patients Age distribution💬 139. Congenital cerebral hypomyelination × Age Num 0-9 2 10-19 3 20-29 23 30-39 12 40-49 5 50-59 2 60-69 - 70-74 - 75- -
Related info (in Japanese)	-
Clinical research form [April 1, 2025 ~] (in Japanese)	Overview, diagnostic criteria, etc. (pdf), Clinical research form (pdf) 139-01, 139-02, 139-03, 139-04, 139-05, 139-06, 139-07, 139-08, 139-09, 139-10, 139-11
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