cone-rod dystrophy 5
MONDO:0010969Mondo
Findings
No curated finding names cone-rod dystrophy 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene.
Definition from the Mondo Disease Ontology (MONDO:0010969), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
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.
- Central scotomaHPOHP:0000603
- Color vision defectHPOHP:0000551
- Cone/cone-rod dystrophyHPOHP:0000548
- Macular degenerationHPOHP:0000608
- PhotophobiaHPOHP:0000613
- Reduced visual acuityHPOHP:0007663
- Retinal pigment epithelial mottlingHPOHP:0007814
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.
- PITPNM3HGNC:21043
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Limited · G2P · Autosomal dominant · 2019
Where it sits
- A kind of
Other names
4 names
Resolves to: cone-rod dystrophy 5
- Also called
- cone-rod dystrophy caused by mutation in PITPNM3cone-rod dystrophy type 5CORD5PITPNM3 cone-rod dystrophy