Details of Disease

General Information of Disease (ID: DISN2JPY)

Disease Name Leber congenital amaurosis 5
Synonyms amaurosis congenita of Leber, type 5; LCA5 Leber congenital amaurosis; LCA5; Leber congenital amaurosis caused by mutation in LCA5; Leber congenital amaurosis 5; Leber congenital amaurosis type 5
Definition Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene.
Disease Hierarchy
DISCSXVI: LCA5-related retinopathy
DISMGH8F: Leber congenital amaurosis
DISN2JPY: Leber congenital amaurosis 5
Disease Identifiers
MONDO ID
MONDO_0011473
MESH ID
C536602
UMLS CUI
C1858301
OMIM ID
604537
MedGen ID
388031

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
LCA5 OTQTCUWS Definitive Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.