Details of Disease | DrugMAP

General Information of Disease (ID: DISZPUWK)

Disease Name	Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
Disease Hierarchy	DISQCXZX: Disorder of development or morphogenesis DISZPUWK: Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
Disease Identifiers	MONDO ID MONDO_0018655 UMLS CUI C5681201 MedGen ID 1842862 Orphanet ID 447893

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POLR3A	OT5MSK10	Supportive	Autosomal recessive	[1]
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References

1	Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet. 2011 Nov 11;89(5):644-51. doi: 10.1016/j.ajhg.2011.10.003. Epub 2011 Oct 27.