retinitis pigmentosa 58
MONDO:0013328Mondo
Findings
No curated finding names retinitis pigmentosa 58 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 ZNF513 gene.
Definition from the Mondo Disease Ontology (MONDO:0013328), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
9 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.
- Abnormal light- and dark-adapted electroretinogramHPOHP:0008323
- 4 of 4 reported patients
- Attenuation of retinal blood vesselsHPOHP:0007843
- 4 of 4 reported patients
- Macular degenerationHPOHP:0000608
- 4 of 4 reported patients
- NyctalopiaHPOHP:0000662
- 4 of 4 reported patients · Juvenile onset
- Optic disc pallorHPOHP:0000543
- 4 of 4 reported patients
- Peripheral visual field lossHPOHP:0007994
- 4 of 4 reported patients
- Severely reduced visual acuity
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.
- ZNF513HGNC:26498
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
Where it sits
- A kind of
Other names
4 names
Resolves to: retinitis pigmentosa 58
- Also called
- retinitis pigmentosa caused by mutation in ZNF513retinitis pigmentosa type 58RP58ZNF513 retinitis pigmentosa