retinitis pigmentosa 51
MONDO:0013274Mondo
Findings
No curated finding names retinitis pigmentosa 51 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 TTC8 gene.
Definition from the Mondo Disease Ontology (MONDO:0013274), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
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.
- Attenuation of retinal blood vesselsHPOHP:0007843
- 4 of 4 reported patients
- Reduced visual acuityHPOHP:0007663
- 4 of 4 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 4 of 4 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 4 of 4 reported patients
- Abnormality of the kidneyHPOHP:0000077
- 0 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 0 of 4 reported patients
- ObesityHPO
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.
- TTC8HGNC:20087
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · LiferaOmics · Autosomal recessive · 2026
Where it sits
Other names
4 names
Resolves to: retinitis pigmentosa 51
- Also called
- retinitis pigmentosa caused by mutation in TTC8retinitis pigmentosa type 51RP51TTC8 retinitis pigmentosa