Details of Disease

General Information of Disease (ID: DIS5F8BY)

Disease Name RLBP1-related retinopathy
Synonyms
Newfoundland rod-cone dystrophy; retinitis punctata albescens; NFRCD; cone-rod dystrophy caused by mutation in RLBP1; Bothnia retinal dystrophy; pigmentary retinal dystrophy; RLBP1 cone-rod dystrophy; Newfoundland ROD-cone dystrophy; Vasterbotten dystrophy; fundus albipunctatus; Vsterbotten dystrophy; RLBP1 retinopathy
Definition A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina.
Disease Hierarchy
DISGGL77: Inherited retinal dystrophy
DIS5F8BY: RLBP1-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
RLBP1 OTCY4D6B 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.