Details of Disease

General Information of Disease (ID: DIS0O22O)

Disease Name AIPL1-related retinopathy
Synonyms
retinitis pigmentosa, juvenile, AIPL1-related; LCA4; cone-rod dystrophy; AIPL1 Leber congenital amaurosis; retinitis pigmentosa, juvenile; amaurosis congenita of Leber, type 4; Leber congenital amaurosis caused by mutation in AIPL1; Leber congenital amaurosis type 4; cone-rod dystrophy, AIPL1-related; Leber congenital amaurosis 4; AIPL1 retinopathy
Definition A retinopathy caused by biallelic variants in the AIPL1 gene.
Disease Hierarchy
DISGGL77: Inherited retinal dystrophy
DIS0O22O: AIPL1-related retinopathy

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
AIPL1 OT4VBD78 Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.