Details of Disease

General Information of Disease (ID: DISFRMBA)

Disease Name Leukodystrophy, hypomyelinating, 17
Synonyms HLD17; leukodystrophy, hypomyelinating, 17
Disease Hierarchy
DISVY1TT: Leukodystrophy
DISFRMBA: Leukodystrophy, hypomyelinating, 17
Disease Identifiers
MONDO ID
MONDO_0054817
UMLS CUI
C4693912
OMIM ID
618006
MedGen ID
1644557

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
AIMP2 TTXWHGF moderate Biomarker [1]
AIMP2 TTXWHGF Definitive Autosomal recessive [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AIMP2 OTR9YPA4 Definitive Autosomal recessive [1]
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References

1 Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis. J Hum Genet. 2018 Jan;63(1):19-25. doi: 10.1038/s10038-017-0363-1. Epub 2017 Nov 16.