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General Information
Name
cardiomyopathy, familial hypertrophic 26
FlyBase ID
FBhh0000671
Overview

This report describes cardiomyopathy, familial hypertrophic 26 (CMH26), which is one of several forms of myopathy associated with the human gene FLNC. Information about fly models for this and related diseases can be found in the report 'myopathy, FLNC-related' (FBhh0000670).

[updated Dec. 2017 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 26
OMIM report

[CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26; CMH26](https://omim.org/entry/617047)

Human gene(s) implicated

[FILAMIN C; FLNC](https://omim.org/entry/102565)

Symptoms and phenotype

See general description of hypertrophic cardiomyopathy, above.

Genetics

Familial cardiomyopathy of the hypertrophic (CMH26) or restrictive (RCM5) type is caused by heterozygous mutation in the FLNC gene. [from OMIM:617047; 2017.12.01]

Cellular phenotype and pathology
Molecular information

FLNC is muscle-specific filamin; filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. FLNC is critical for normal myogenesis and for maintaining the structural integrity of the muscle fibers; may also display structural functions at the Z lines in muscle cells. [from Gene Cards, FLNC; 2017.12.01]

External links
Disease synonyms
CMH26
cardiomyopathy, familial restrictive 5
RCM5
Ortholog Information
Human gene(s) in FlyBase
    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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      Selected Drosophila transgenes
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      RNAi constructs available
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      Selected Drosophila classical alleles
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      Publicly Available Stocks
      References (2)