Details of Disease

General Information of Disease (ID: DIS3MJVL)

Disease Name Hypomyelinating leukodystrophy 9
Synonyms
leukodystrophy, hypomyelinating, 9; HLD9; RARS leukodystrophy; leukodystrophy, hypomyelinating, type 9; leukodystrophy caused by mutation in RARS; RARS-related autosomal recessive hypomyelinating leukodystrophy; hypomyelinating leukodystrophy type 9
Definition Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene.
Disease Hierarchy
DISVY1TT: Leukodystrophy
DIS3MJVL: Hypomyelinating leukodystrophy 9
Disease Identifiers
MONDO ID
MONDO_0014506
UMLS CUI
C4015323
OMIM ID
616140
MedGen ID
863760
Orphanet ID
438114
SNOMED CT ID
1220600004

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
RARS1 OTHPZ6JN Strong Autosomal recessive [1]
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References

1 Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet. 2009 Sep;41(9):1022-6. doi: 10.1038/ng.425. Epub 2009 Aug 16.