retinitis pigmentosa 73
MONDO:0014687Mondo
Findings
No curated finding names retinitis pigmentosa 73 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 HGSNAT gene.
Definition from the Mondo Disease Ontology (MONDO:0014687), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Childhood onset · Early young adult onset
HPO, annotations 2026-09-02
Features
17 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.
- Retinal atrophyHPOHP:0001105
- 6 of 6 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 6 of 6 reported patients
- NyctalopiaHPOHP:0000662
- 5 of 6 reported patients
- Ring scotomaHPOHP:0030529
- 4 of 6 reported patients
- Macular crystalsHPOHP:0030501
- 2 of 6 reported patients
- Optic disc pallorHPOHP:0000543
- 2 of 6 reported patients
- Reduced visual acuityHPOHP:0007663
Show the remaining 5
- Macular geographic atrophyHPOHP:0031609
- 1 of 6 reported patients
- Peripapillary atrophyHPOHP:0500087
- 1 of 6 reported patients
- PhotopsiaHPOHP:0030786
- 1 of 6 reported patients
- Visual field defectHPOHP:0001123
- 1 of 6 reported patients
- Constriction of peripheral visual fieldHPOHP:0001133
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.
- HGSNATHGNC:26527
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Limited · G2P · Autosomal recessive · 2017
Where it sits
Other names
4 names
Resolves to: retinitis pigmentosa 73
- Also called
- HGSNAT retinitis pigmentosaretinitis pigmentosa caused by mutation in HGSNATretinitis pigmentosa type 73RP73