retinal cone dystrophy 4
MONDO:0012507Mondo
Findings
No curated finding names retinal cone dystrophy 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene.
Definition from the Mondo Disease Ontology (MONDO:0012507), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 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.
- Cone/cone-rod dystrophyHPOHP:0000548
- ERG: Reduced dark-adapted b-wave amplitudeHPOHP:0007984
- Retinal pigment epithelial mottlingHPOHP:0007814
- Visual impairmentHPOHP:0000505
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.
- HGNC:20202HGNC:20202
- Strong · G2P · Autosomal recessive · 2017
- Moderate · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
Other names
3 names
Resolves to: retinal cone dystrophy 4
- Also called
- CACNA2D4 cone dystrophycone dystrophy caused by mutation in CACNA2D4retinal cone dystrophy type 4