retinitis pigmentosa 42
MONDO:0013052Mondo
Findings
No curated finding names retinitis pigmentosa 42 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 KLHL7 gene.
Definition from the Mondo Disease Ontology (MONDO:0013052), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
5 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.
- Perifoveal ring of hyperautofluorescenceHPOHP:0030629
- 3 of 3 reported patients
- Peripapillary atrophyHPOHP:0500087
- 3 of 3 reported patients
- Reduced visual acuityHPOHP:0007663
- 5 of 5 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 5 of 5 reported patients
- Cystoid macular edemaHPOHP:0011505
- 4 of 5 reported patients
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.
- KLHL7HGNC:15646
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2017
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: retinitis pigmentosa 42
- Also called
- KLHL7 retinitis pigmentosaretinitis pigmentosa caused by mutation in KLHL7retinitis pigmentosa type 42RP42