patterned macular dystrophy 3
Findings
No curated finding names patterned macular dystrophy 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene.
Definition from the Mondo Disease Ontology (MONDO:0014920), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset
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.
- Choroidal neovascularizationHPOHP:0011506
- Very rare (1% to 4% of cases)
- Macular atrophyHPOHP:0007401
- Reduced visual acuityHPOHP:0007663
- Rod-cone dystrophyHPOHP:0000510
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.
- MAPKAPK3HGNC:6888
- Strong · G2P · Autosomal dominant · 2017
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
- A kind of
Other names
8 names
Resolves to: patterned macular dystrophy 3
- Also called
- macular dystrophy, patterned, 3macular dystrophy, patterned, type 3MAPKAPK3 patterned macular dystrophyMartinique crinkled retinal pigment epitheliopathyMCRPEMDPT3patterned macular dystrophy caused by mutation in MAPKAPK3patterned macular dystrophy type 3