Details of Disease

General Information of Disease (ID: DIS6012E)

Disease Name Hypomyelinating leukodystrophy 13
Synonyms
hikeshi leukodystrophy; leukodystrophy, hypomyelinating, 13; leukodystrophy caused by mutation in hikeshi; leukodystrophy caused by mutation in HIKESHI; hypomyelinating leukodystrophy type 13; leukodystrophy, hypomyelinating, type 13; HIKESHI leukodystrophy; HLD13
Definition Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene.
Disease Hierarchy
DISVY1TT: Leukodystrophy
DIS6012E: Hypomyelinating leukodystrophy 13
Disease Identifiers
MONDO ID
MONDO_0014813
UMLS CUI
C4225170
OMIM ID
616881
MedGen ID
896545

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 Strong 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.