retinitis pigmentosa 93
MONDO:0030797Mondo
Findings
No curated finding names retinitis pigmentosa 93 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any retinitis pigmentosa in which the cause of the disease is a mutation in the CC2D2A gene.
Definition from the Mondo Disease Ontology (MONDO:0030797), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Young adult onset
HPO, annotations 2026-09-02
Features
5 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.
- Constriction of peripheral visual fieldHPOHP:0001133
- 3 of 3 reported patients
- Reduced visual acuityHPOHP:0007663
- 3 of 3 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 3 of 3 reported patients
- Undetectable electroretinogramHPOHP:0000550
- 3 of 3 reported patients
- Retinal dotsHPOHP:0032027
- 1 of 3 reported patients
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.
- HGNC:29253HGNC:29253
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
2 names
Resolves to: retinitis pigmentosa 93
- Also called
- CC2D2A retinitis pigmentosa 93RP93