Details of Disease

General Information of Disease (ID: DIS24FTQ)

Disease Name Leber congenital amaurosis 3
Synonyms
retinitis pigmentosa, juvenile, Spata7-related; amaurosis congenita of Leber, type 3; SPATA7 Leber congenital amaurosis; Leber congenital amaurosis 3; Leber congenital amaurosis caused by mutation in SPATA7; LCA3; Leber congenital amaurosis type 3; retinitis pigmentosa, juvenile, autosomal recessive
Definition Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene.
Disease Hierarchy
DISMGH8F: Leber congenital amaurosis
DIS24FTQ: Leber congenital amaurosis 3
Disease Identifiers
MONDO ID
MONDO_0011415
MESH ID
C565814
UMLS CUI
C1858677
OMIM ID
604232
MedGen ID
346964

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
SPATA7 OT78G2IH 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.