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patterned macular dystrophy 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

patterned macular dystrophy 3

MONDO:0014920

Also known as:MAPKAPK3 patterned macular dystrophyMCRPEMDPT3

Overview

Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene.

GeneticsAutosomal dominant · MAPKAPK3 (chr 3)

Clinical Presentation

Features include rarely findings: Choroidal neovascularization. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	1	Macular atrophy
Muscles	1	Macular atrophy

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MAPKAPK3 encodes MAPK activated protein kinase 3 (382 aa). Stress-activated serine/threonine-protein kinase involved in cytokines production, endocytosis, cell migration, chromatin remodeling and transcriptional regulation. Highest expression in Heart Left Ventricle (119.5 TPM) and Muscle Skeletal (98.5 TPM).

Patterned macular dystrophy 3 is associated with mutations in the MAPKAPK3 gene on chromosome 3.

The MAPKAPK3 protein participates in phospho-MAPK p38:p-MAPKAPK3, p-p38 MAPK: p-S272,T222,T334-MAPKAPK2, p-S,2T-MAPKAPK3, and p-S272,T222,T334-MAPKAPK2, p-S,2T-MAPKAPK3 pathways.

MAPKAPK3 is classified as a druggable target (Druggable Genome, Enzyme, Kinase, Serine Threonine Kinase, and Transcription Factor categories) with score 1.9.

Diagnosis

Genetic testing for MAPKAPK3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for patterned macular dystrophy 3 has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for patterned macular dystrophy 3.

200 publications have been identified in PubMed for patterned macular dystrophy 3. Research spans Epidemiology / Natural History (39%), Basic Science / Preclinical (22%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Disease patterns and progression	75	39%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617111

Orphanet

European rare disease database

Orphanet:466718

GARD

Genetic and Rare Diseases Info Center

GARD:17826

Questions for Your Care Team

→Should I pursue genetic testing for MAPKAPK3, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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patterned macular dystrophy 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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