Details of Disease

General Information of Disease (ID: DISHZJ3D)

Disease Name RCBTB1-related retinopathy
Synonyms RCBTB1-related retinopathy; RDEOA; retinal dystrophy with or without extraocular anomalies
Definition
RCBTB1-related retinopathy describes a range of retinal phenotypes caused by bi-allelic variants in the RCBTB1 gene. While extra-ocular phenotypes in addition to retinopathy have been reported in some patients, no clear pattern has been observed.
Disease Hierarchy
DIS2LN29: Reticular dystrophy of the retinal pigment epithelium
DISHZJ3D: RCBTB1-related retinopathy
Disease Identifiers
MONDO ID
MONDO_0014955
UMLS CUI
C4310680
OMIM ID
617175
MedGen ID
934647

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
RCBTB1 OTAYELI8 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.