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General Information
Name
cardiomyopathy, familial hypertrophic 15
FlyBase ID
FBhh0000889
Overview

This report describes cardiomyopathy, familial hypertrophic, 15 (CMH15), which is one of several forms of heart disease associated with the human vinculin gene, VCL (see OMIM:193065); CMH15 exhibits autosomal dominant inheritance. Information about fly models for this and related diseases can be found in the report 'cardiomyopathy, VCL-related' (FBhh0000887).

[updated Sep. 2018 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: cardiomyopathy, familial hypertrophic
Symptoms and phenotype

Familial hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of cardiac muscle. Thickening usually occurs in the interventricular septum, the muscular wall that separates the left ventricle from the right ventricle. Cardiac hypertrophy often begins in adolescence or young adulthood, although it can develop at any time throughout life. The symptoms are variable, even within the same family. While most people this condition are symptom-free or have only mild symptoms, hypertrophic cardiomyopathy can cause abnormal heart rhythms (arrhythmias) that may be life threatening. People with familial hypertrophic cardiomyopathy have an increased risk of sudden death, even if they have no other symptoms of the condition. A small number of affected individuals develop potentially fatal heart failure, which may require heart transplantation. [from Genetics Home Reference, familial hypertrophic cardiomyopathy; 2016.10.13]

Hypertrophic cardiomyopathy in early stages produces a presystolic gallop due to an atrial heart sound, and EKG changes of ventricular hypertrophy. Progressive ventricular outflow obstruction may cause palpitation associated with arrhythmia, congestive heart failure, and sudden death. Hypertrophic cardiomyopathy accounts for a significant number (exceeding 25% in one study) of sudden deaths of young athletes. [from OMIM:192600; 2016.10.28]

Specific Disease Summary: cardiomyopathy, familial hypertrophic 15
OMIM report

[CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15; CMH15](https://omim.org/entry/613255)

Human gene(s) implicated

[VINCULIN; VCL](https://omim.org/entry/193065)

Symptoms and phenotype
Genetics

Familial hypertrophic cardiomyopathy-15 (CMH15) is caused by heterozygous mutation in the vinculin gene (VCL). [from OMIM:613255; 2018.09.12]

Cellular phenotype and pathology
Molecular information

Vinculin is a cytoskeletal protein associated with the cytoplasmic face of both cell-cell and cell-extracellular matrix adherens-type junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane (Weller et al., 1990; pubmed:2116004). [from OMIM:193065; 2018.09.12]

External links
Disease synonyms
cardiomyopathy, hypertrophic, 15
CMH15
hypertrophic cardiomyopathy 15
familial hypertrophic cardiomyopathy-15
cardiomyopathy, familial hypertrophic, 15
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    Symbol / Name
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)

    One to one: 1 human to 1 Drosophila.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Synthetic Gene(s) Used (0)
      Summary of Physical Interactions (0 groups)
      Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
      Genetic Tools, Stocks and Reagents
      Sources of Stocks
      Contact lab of origin for a reagent not available from a public stock center.
      Bloomington Stock Center Disease Page
      Selected mammalian transgenes
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      Transgene
      Publicly Available Stocks
      Selected Drosophila transgenes
      Allele
      Transgene
      Publicly Available Stocks
      RNAi constructs available
      Allele
      Transgene
      Publicly Available Stocks
      Selected Drosophila classical alleles
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      Publicly Available Stocks
      References (3)