Details of Disease

General Information of Disease (ID: DIST9VVM)

Disease Name Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
Synonyms HLD23
Disease Hierarchy
DISVY1TT: Leukodystrophy
DIST9VVM: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
Disease Identifiers
MONDO ID
MONDO_0030514
UMLS CUI
C5562074
OMIM ID
619688
MedGen ID
1794284

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
RNF220 OT2FIEXO Strong Autosomal recessive [1]
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References

1 Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness. Brain. 2021 Nov 29;144(10):3020-3035. doi: 10.1093/brain/awab185.