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GTR Home > Conditions/Phenotypes > Hypertrophic cardiomyopathy 3

Hypertrophic cardiomyopathy 3

Synonyms
Familial hypertrophic cardiomyopathy 3; TPM1-Related Familial Hypertrophic Cardiomyopathy

Summary

Familial hypertrophic cardiomyopathy-3 (CMH3) is an autosomal dominant disorder characterized by increased myocardial mass with myocyte and myofibrillar disarray (Thierfelder et al., 1994). For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600). [from OMIM]

Available tests

63 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (63 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C15orf13, CMD1Y, CMH3, HEL-S-265, HTM-alpha, LVNC9, TMSA, TPM1
    Summary: tropomyosin 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • EuroGenetest, 2011
    Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

Molecular resources

Consumer resources

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