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General Information
Name
cardiomyopathy, familial hypertrophic 1
FlyBase ID
FBhh0000411
Overview

This report describes cardiomyopathy, familial hypertrophic 1 (CMH1), which is one of several forms of heart disease associated with MYH7. CMH1 exhibits autosomal dominant inheritance. Information about fly models for this and related diseases can be found in the report 'cardiomyopathy, MYH6-MYH7-related' (FBhh0000422).

Several human variants implicated in CMH1 have been characterized in flies. Variant(s) implicated in human disease tested (as analogous mutation in fly gene): P836L in the fly Mhc gene (corresponds to P838L in the human MYH7 gene); R147N in the fly Mhc gene (corresponds to K146N in the human MYH7 gene); R249Q in the fly Mhc gene (corresponds to R249Q in the human MYH7 gene).

[updated Mar. 2020 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 1
OMIM report

[CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1](https://omim.org/entry/192600)

Human gene(s) implicated

[CAVEOLIN 3; CAV3](https://omim.org/entry/601253)

[MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7](https://omim.org/entry/160760)

[MYOSIN LIGHT CHAIN KINASE 2; MYLK2](https://omim.org/entry/606566)

Symptoms and phenotype

See general description of hypertrophic cardiomyopathy, above.

Genetics

Familial hypertrophic cardiomyopathy 1 is caused by heterozygous mutation in the myosin heavy chain 7 (MYH7) gene. [from OMIM:192600; 2016.10.13]

Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
CMH1
familial hypertrophic cardiomyopathy 1
ventricular hypertrophy, hereditary
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)

    Many to one: 10 human to 1 Drosophila.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (1)
      Gene Snapshot
      Myosin heavy chain (Mhc) encodes the motor protein that provides the force for muscle contraction through its ATP-dependent interaction with actin filaments. It functions with essential and regulatory light chains. [Date last reviewed: 2019-03-14]
      Gene Groups / Pathways
      Comments on ortholog(s)

      Ortholog of human muscle myosin heavy chain genes, class II (1 Drosophila to 10 human); reciprocal best matches for Dmel\Mhc are human MYH6 and MYH7. Dmel\Mhc shares 57% identity and 75% similarity with human MYH6 and MYH7.

      Orthologs and Alignments from DRSC
      DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
      Synthetic Gene(s) Used (0)
      Summary of Physical Interactions (43 groups)
      protein-protein
      Interacting group
      Assay
      References
      dynamic light scattering
      experimental knowledge based
      experimental knowledge based
      experimental knowledge based
      experimental knowledge based
      experimental knowledge based
      experimental knowledge based
      experimental knowledge based
      experimental knowledge based
      experimental knowledge based
      experimental knowledge based
      experimental knowledge based
      experimental knowledge based
      experimental knowledge based
      experimental knowledge based
      experimental knowledge based
      experimental knowledge based
      experimental knowledge based
      experimental knowledge based
      experimental knowledge based, pull down, filter binding
      experimental knowledge based
      experimental knowledge based
      experimental knowledge based
      experimental knowledge based
      anti tag coimmunoprecipitation, peptide massfingerprinting, western blot, cosedimentation, molecular weight estimation by staining
      experimental knowledge based
      experimental knowledge based
      experimental knowledge based
      experimental knowledge based
      experimental knowledge based
      anti tag coimmunoprecipitation, Identification by mass spectrometry
      anti tag coimmunoprecipitation, peptide massfingerprinting, experimental knowledge based
      experimental knowledge based
      anti tag coimmunoprecipitation, Identification by mass spectrometry
      experimental knowledge based
      experimental knowledge based
      anti tag coimmunoprecipitation, Identification by mass spectrometry
      experimental knowledge based
      experimental knowledge based
      dynamic light scattering
      anti bait coimmunoprecipitation, peptide massfingerprinting
      experimental knowledge based
      experimental knowledge based
      Alleles Reported to Model Human Disease (Disease Ontology) (26 alleles)
      Models Based on Experimental Evidence ( 22 )
      Allele
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 5 )
      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
      Allele
      Transgene
      Publicly Available Stocks
      Selected Drosophila transgenes
      Allele
      Transgene
      Publicly Available Stocks
      RNAi constructs available
      Allele
      Transgene
      Publicly Available Stocks
      Selected Drosophila classical alleles
      Allele
      Allele class
      Mutagen
      Publicly Available Stocks
      CRISPR/Cas9
      loss of function allele
      ethyl methanesulfonate
      amorphic allele - genetic evidence
      ethyl methanesulfonate
      loss of function allele
      ethyl methanesulfonate
      amorphic allele - genetic evidence
      References (8)