retinitis pigmentosa 14
MONDO:0010827Mondo
Findings
No curated finding names retinitis pigmentosa 14 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 TULP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0010827), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
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
- 5 of 5 reported patients · Infantile onset
- NystagmusHPOHP:0000639
- 5 of 5 reported patients · Infantile onset
- Posterior subcapsular cataractHPOHP:0007787
- 5 of 5 reported patients
- Reduced visual acuityHPOHP:0007663
- 5 of 5 reported patients · Infantile onset
- Rod-cone dystrophyHPOHP:0000510
- 5 of 5 reported patients
- Undetectable electroretinogramHPOHP:0000550
- 5 of 5 reported patients
- Constriction of peripheral visual field
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.
- TULP1HGNC:12423
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: retinitis pigmentosa 14
- Also called
- retinitis pigmentosa caused by mutation in TULP1retinitis pigmentosa type 14RP14TULP1 retinitis pigmentosa