FB2026_03 , released September 17, 2026
Human Disease Model Report: dilated cardiomyopathy 1W
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General Information
Name
dilated cardiomyopathy 1W
FlyBase ID
FBhh0000888
Disease Ontology Term
Parent Disease
Overview

This report describes dilated cardiomyopathy 1W (CMD1W), which is one of several forms of heart disease associated with the human vinculin gene, VCL (see MIM:193065); CMD1W 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: dilated cardiomyopathy
Symptoms and phenotype

Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: (1) Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal nocturnal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion); (2) arrhythmias and/or conduction system disease; (3) thromboembolic disease (from left ventricular mural thrombus) including stroke. [from Dilated Cardiomyopathy Overview, pubmed:20301486 2016.01.26]

Dilated cardiomyopathy (CMD) is characterized by cardiac dilatation and reduced systolic function. CMD is the most frequent form of cardiomyopathy and accounts for more than half of all cardiac transplantations performed in patients between 1 and 10 years of age. A heritable pattern is present in 20 to 30% of cases. Most familial CMD pedigrees show an autosomal dominant pattern of inheritance, usually presenting in the second or third decade of life (summary by Levitas et al., 2010, pubmed:20551992). [from MIM:115200, 2016.01.27]

Specific Disease Summary: dilated cardiomyopathy 1W
OMIM report

[CARDIOMYOPATHY, DILATED, 1W; CMD1W](https://omim.org/entry/611407)

Human gene(s) implicated

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

Symptoms and phenotype
Genetics

This form of dilated cardiomyopathy is caused by mutation in the gene encoding metavinculin (VCL). [from MIM:611407; 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 MIM:193065; 2018.09.12]

External links
Disease synonyms
cardiomyopathy, dilated, 1W
CMD1W
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)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        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
        Related mammalian, viral, bacterial, or synthetic transgenes
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        Publicly Available Stocks
        Selected Drosophila transgenes
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        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
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        Publicly Available Stocks
        References (3)