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CMH27
MCID: CRD242
MIFTS: 21
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Cardiomyopathy, Familial Hypertrophic 27 (CMH27)
Categories:
Cardiovascular diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic 27:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
death in utero or shortly after birth (in some patients) an initial phenotype of dilated cardiomyopathy may progress to a hypertrophic phenotype (in some patients) patients are at risk for potentially fatal ventricular arrhythmias heterozygotes are at increased risk for developing later-onset hypertrophic cardiomyopathy HPO:31Classifications: |
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OMIM® :
57
CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600).
An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (188840), and MYL3 (160790) genes has also been reported in 1 family. (618052) (Updated 05-Mar-2021)
MalaCards based summary : Cardiomyopathy, Familial Hypertrophic 27, is also known as cmh27. An important gene associated with Cardiomyopathy, Familial Hypertrophic 27 is ALPK3 (Alpha Kinase 3). Related phenotypes are cardiomegaly and hydrops fetalis UniProtKB/Swiss-Prot : 73 Cardiomyopathy, familial hypertrophic 27: A form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH27 is a severe, early- onset form with features of hypertrophic and dilated cardiomyopathy. |
Human phenotypes related to Cardiomyopathy, Familial Hypertrophic 27:31
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Articles related to Cardiomyopathy, Familial Hypertrophic 27:
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Genes related to Cardiomyopathy, Familial Hypertrophic 27 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic 27:6
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Search
GEO
for disease gene expression data for Cardiomyopathy, Familial Hypertrophic 27.
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