Details of Disease

General Information of Disease (ID: DISXRT54)

Disease Name Retinal dystrophy with leukodystrophy
Synonyms RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD; retinal dystrophy with leukodystrophy
Disease Hierarchy
DISYKSRF: Genetic disease
DISXRT54: Retinal dystrophy with leukodystrophy
Disease Identifiers
MONDO ID
MONDO_0030026
UMLS CUI
C5394315
OMIM ID
618863
MedGen ID
1715138

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
ACBD5 OT7L16DY Definitive Autosomal recessive [1]
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References

1 ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism. J Med Genet. 2017 May;54(5):330-337. doi: 10.1136/jmedgenet-2016-104132. Epub 2016 Oct 31.