retinitis pigmentosa 12
MONDO:0010818Mondo
Findings
No curated finding names retinitis pigmentosa 12 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 CRB1 gene.
Definition from the Mondo Disease Ontology (MONDO:0010818), read 2026-09-29. CC BY 4.0.
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
9 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.
- Attenuation of retinal blood vesselsHPOHP:0007843
- 4 of 4 reported patients
- NystagmusHPOHP:0000639
- 7 of 7 reported patients
- Reduced visual acuityHPOHP:0007663
- 7 of 7 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 7 of 7 reported patients
- Undetectable electroretinogramHPOHP:0000550
- 3 of 3 reported patients
- Optic disc pallorHPOHP:0000543
- 5 of 6 reported patients
- 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.
- CRB1HGNC:2343
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
5 names
Resolves to: retinitis pigmentosa 12
- Also called
- CRB1 retinitis pigmentosaretinitis pigmentosa caused by mutation in CRB1retinitis pigmentosa type 12retinitis pigmentosa-12RP12