Details of Disease

General Information of Disease (ID: DIS290GP)

Disease Name Leukodystrophy, hypomyelinating, 19, transient infantile
Synonyms HLD19; LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE
Disease Hierarchy
DISVY1TT: Leukodystrophy
DIS290GP: Leukodystrophy, hypomyelinating, 19, transient infantile
Disease Identifiers
MONDO ID
MONDO_0032871
UMLS CUI
C5231463
OMIM ID
618688
MedGen ID
1684698

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
TMEM63A OTIUZ0C7 Strong Autosomal dominant [1]
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References

1 Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling. J Clin Invest. 2013 Oct;123(10):4208-18. doi: 10.1172/JCI67119. Epub 2013 Sep 3.