Details of Disease

General Information of Disease (ID: DIS2QDFZ)

Disease Name Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Synonyms hypomyelination with brainstem and spinal cord involvement and leg spasticity; aspartyl-tRNA synthetase deficiency; HBSL
Disease Hierarchy
DISVY1TT: Leukodystrophy
DIS2QDFZ: Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Disease Identifiers
MONDO ID
MONDO_0014115
UMLS CUI
C4755254
OMIM ID
615281
MedGen ID
1667792
Orphanet ID
363412
SNOMED CT ID
777999008

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
DARS1 OT0WGC2T Definitive Autosomal recessive [1]
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References

1 Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. Am J Hum Genet. 2013 May 2;92(5):774-80. doi: 10.1016/j.ajhg.2013.04.006.