Details of Disease | DrugMAP

General Information of Disease (ID: DISKC17T)

Disease Name	C11orf73-related autosomal recessive hypomyelinating leukodystrophy
Synonyms	hypomyelinating leukodystrophy due to hikeshi deficiency; C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy
Disease Hierarchy	DISVY1TT: Leukodystrophy DISKC17T: C11orf73-related autosomal recessive hypomyelinating leukodystrophy
Disease Identifiers	MONDO ID MONDO_0044642 UMLS CUI C5567456 MedGen ID 1798879 Orphanet ID 495844 SNOMED CT ID 1172595004

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
HIKESHI	OTPKV3UZ	Moderate	Autosomal recessive	[1]
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References

1	Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene. J Med Genet. 2016 Feb;53(2):132-7. doi: 10.1136/jmedgenet-2015-103232. Epub 2015 Nov 6.