retinitis pigmentosa 11
MONDO:0010828Mondo
Findings
No curated finding names retinitis pigmentosa 11 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 PRPF31 gene.
Definition from the Mondo Disease Ontology (MONDO:0010828), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
HPO, annotations 2026-09-02
Features
8 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
- 5 of 6 reported patients
- Macular edemaHPOHP:0040049
- 4 of 6 reported patients
- Perifoveal ring of hyperautofluorescenceHPOHP:0030629
- 4 of 6 reported patients
- Optic disc pallorHPOHP:0000543
- 2 of 6 reported patients
- Constriction of peripheral visual fieldHPOHP:0001133
- Reduced visual acuityHPOHP:0007663
- Rod-cone dystrophyHPOHP:0000510
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.
- PRPF31HGNC:15446
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: retinitis pigmentosa 11
- Also called
- PRPF31 retinitis pigmentosaretinitis pigmentosa caused by mutation in PRPF31retinitis pigmentosa type 11RP11