retinitis pigmentosa 37
MONDO:0012625Mondo
Findings
No curated finding names retinitis pigmentosa 37 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 NR2E3 gene.
Definition from the Mondo Disease Ontology (MONDO:0012625), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
10 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.
- NyctalopiaHPOHP:0000662
- 14 of 14 reported patients
- Reduced visual acuityHPOHP:0007663
- 14 of 14 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 14 of 14 reported patients
- Constriction of peripheral visual fieldHPOHP:0001133
- 11 of 14 reported patients
- Posterior subcapsular cataractHPOHP:0007787
- 6 of 14 reported patients
- PhotophobiaHPOHP:0000613
- 4 of 13 reported patients
- Cystoid macular degenerationHPO
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.
- NR2E3HGNC:7974
- Definitive · G2P · Autosomal dominant · 2017
- Definitive · Natera · Autosomal dominant · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: retinitis pigmentosa 37
- Also called
- NR2E3 retinitis pigmentosaretinitis pigmentosa caused by mutation in NR2E3retinitis pigmentosa type 37RP37