Details of Disease

General Information of Disease (ID: DISCX0R5)

Disease Name Leukodystrophy, hypomyelinating, 22
Synonyms HLD22
Disease Hierarchy
DISVY1TT: Leukodystrophy
DISCX0R5: Leukodystrophy, hypomyelinating, 22
Disease Identifiers
MONDO ID
MONDO_0025701
UMLS CUI
C5543406
OMIM ID
619328
MedGen ID
1787833

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
CLDN11 OTNN6UTL Strong Autosomal dominant [1]
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References

1 De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy. Brain. 2021 Mar 3;144(2):411-419. doi: 10.1093/brain/awaa410.