retinitis pigmentosa 71
MONDO:0014618Mondo
Findings
No curated finding names retinitis pigmentosa 71 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 IFT172 gene.
Definition from the Mondo Disease Ontology (MONDO:0014618), 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
- 1 of 1 reported patient
- NyctalopiaHPOHP:0000662
- 2 of 2 reported patients
- Optic disc drusenHPOHP:0012426
- 2 of 2 reported patients
- Optic disc pallorHPOHP:0000543
- 1 of 1 reported patient
- Perifoveal ring of hyperautofluorescenceHPOHP:0030629
- 2 of 2 reported patients
- ScoliosisHPOHP:0002650
- 1 of 2 reported patients
- 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.
- IFT172HGNC:30391
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: retinitis pigmentosa 71
- Also called
- IFT172 retinitis pigmentosaretinitis pigmentosa caused by mutation in IFT172retinitis pigmentosa type 71RP71