retinitis pigmentosa 49
MONDO:0013405Mondo
Findings
No curated finding names retinitis pigmentosa 49 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 CNGA1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013405), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
7 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
- 7 of 7 reported patients
- NyctalopiaHPOHP:0000662
- 7 of 7 reported patients · Childhood onset
- Optic disc pallorHPOHP:0000543
- 7 of 7 reported patients
- Peripheral visual field lossHPOHP:0007994
- 7 of 7 reported patients
- Reduced visual acuityHPOHP:0007663
- 7 of 7 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 7 of 7 reported patients
- Rod-cone dystrophyHPO
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.
- CNGA1HGNC:2148
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
Other names
4 names
Resolves to: retinitis pigmentosa 49
- Also called
- CNGA1 retinitis pigmentosaretinitis pigmentosa caused by mutation in CNGA1retinitis pigmentosa type 49RP49