Details of Disease

General Information of Disease (ID: DISJGUBM)

Disease Name CAPN5-related vitreoretinopathy
Synonyms
proliferative vitreoretinopathy; autosomal dominant neovascular inflammatory vitreoretinopathy; vitreoretinopathy, neovascular inflammatory; retinitis proliferans; ADNIV; VRNI; vitreoretinopathy, neovascular inflammatory, autosomal dominant; CAPN5 vitreoretinopathy
Definition An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients.
Disease Hierarchy
DISVPRKD: Vitreoretinal degeneration
DISZTEK1: Proliferative vitreoretinopathy
DISJGUBM: CAPN5-related vitreoretinopathy
Disease Identifiers
MONDO ID
MONDO_0100450
UMLS CUI
C4721549
MedGen ID
1648542
SNOMED CT ID
770791000

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
CAPN5 OTQ8QM7K Definitive Autosomal dominant [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.