Details of Disease

General Information of Disease (ID: DISHT2FX)

Disease Name Leukoencephalopathy, progressive, infantile-onset, with or without deafness
Synonyms LEPID
Disease Hierarchy
DISYKSRF: Genetic disease
DISHT2FX: Leukoencephalopathy, progressive, infantile-onset, with or without deafness
Disease Identifiers
MONDO ID
MONDO_0030893
UMLS CUI
C5542996
OMIM ID
619147
MedGen ID
1779519

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
KARS1 OT0EU4SV Strong Autosomal recessive [1]
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References

1 Targeted exome sequencing of suspected mitochondrial disorders. Neurology. 2013 May 7;80(19):1762-70. doi: 10.1212/WNL.0b013e3182918c40. Epub 2013 Apr 17.