retinitis pigmentosa 17
Findings
No curated finding names retinitis pigmentosa 17 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any retinitis pigmentosa caused by duplication or triplication in the chromosome 17q22-q23 region that results in disruption of topologically associated domains (TADs) and increased retinal expression of GDPD1.
Definition from the Mondo Disease Ontology (MONDO:0010945), read 2026-09-29. CC BY 4.0.
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Color vision defectHPOHP:0000551
- NyctalopiaHPOHP:0000662
- Young adult onset
- PhotophobiaHPOHP:0000613
- Spicular pigmentation of the retinaHPOHP:0007737
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CA4HGNC:1375
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: retinitis pigmentosa 17
- Also called
- CA4 retinitis pigmentosaretinitis pigmentosa caused by mutation in CA4retinitis pigmentosa type 17RP17