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distal myopathy, Tateyama type (MPDT) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

distal myopathy, Tateyama type

MONDO:0013686

Also known as:MPDTmyopathy, distal, Tateyama type

Overview

Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.

GeneticsAutosomal dominant · CAV3 (chr 3)

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Centrally nucleated skeletal muscle fibers, Elevated circulating aspartate aminotransferase concentration, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), and Hand muscle weakness and others. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	8	Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Myopathy

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.

CAV3 encodes caveolin 3 (151 aa). May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. Highest expression in Muscle Skeletal (46.5 TPM) and Heart Left Ventricle (13.0 TPM).

Distal myopathy, Tateyama type is associated with mutations in the CAV3 gene on chromosome 3.

The CAV3 protein participates in DYSF, CAV3 and TRIM72 bind, CaV3.2 (CACNA1H:CACNA2D1:CACNB1,2,3:CACNG7) transports calcium from the extracellular region to the cytosol, and CaV3.2:heparan sulfate-HSPG2 pathways.

CAV3 is classified as a druggable target (Cell Surface and Transporter categories) with score 0.0.

Diagnosis

Genetic testing for CAV3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 11 always present features.

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 distal myopathy, Tateyama type.

1 publication has been identified in PubMed for distal myopathy, Tateyama type. Research spans Review / Meta-Analysis (100%).

Recent Publications

Mondéjar-Parreño G (2025). [PMID: 39788950](https://pubmed.ncbi.nlm.nih.gov/39788950/). *Cell Discov*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 21, 2026, 10:31 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614321

Orphanet

European rare disease database

Orphanet:488650

GARD

Genetic and Rare Diseases Info Center

GARD:17900

Questions for Your Care Team

→Should I pursue genetic testing for CAV3, 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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distal myopathy, Tateyama type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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