Details of Disease

General Information of Disease (ID: DISSN2H6)

Disease Name Leukodystrophy, hypomyelinating, 14
Synonyms HLD14; hypomyelinating leukodystrophy 14; leukodystrophy, hypomyelinating, 14
Disease Hierarchy
DISVY1TT: Leukodystrophy
DISSN2H6: Leukodystrophy, hypomyelinating, 14
Disease Identifiers
MONDO ID
MONDO_0033486
UMLS CUI
C4693535
OMIM ID
617899
MedGen ID
1635255

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
UFM1 OTC7QMYA Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 UFM1 founder mutation in the Roma population causes recessive variant of H-ABC. Neurology. 2017 Oct 24;89(17):1821-1828. doi: 10.1212/WNL.0000000000004578. Epub 2017 Sep 20.