CMH27
MCID: CRD242
MIFTS: 21

Cardiomyopathy, Familial Hypertrophic 27 (CMH27)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic 27

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic 27:

Name: Cardiomyopathy, Familial Hypertrophic 27 58 76 6
Cmh27 58 76
Cardiomyopathy, Hypertrophic, Familial, Type 27 41

Characteristics:

OMIM:

58
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


Classifications:



External Ids:

OMIM 58 618052
MeSH 45 D024741
MedGen 43 CN252335

Summaries for Cardiomyopathy, Familial Hypertrophic 27

OMIM : 58 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)

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). Affiliated tissues include heart, and related phenotypes are cardiomegaly and prolonged qt interval

UniProtKB/Swiss-Prot : 76 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.

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic 27

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic 27:

33
# Description HPO Frequency HPO Source Accession
1 cardiomegaly 33 HP:0001640
2 prolonged qt interval 33 HP:0001657
3 mitral regurgitation 33 HP:0001653
4 tricuspid regurgitation 33 HP:0005180

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
cardiomegaly
prolonged qt interval
mitral regurgitation
tricuspid regurgitation
thickened myocardium
more
Prenatal Manifestations:
hydrops fetalis

Clinical features from OMIM:

618052

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic 27

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic 27

Genetic Tests for Cardiomyopathy, Familial Hypertrophic 27

Anatomical Context for Cardiomyopathy, Familial Hypertrophic 27

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic 27:

42
Heart

Publications for Cardiomyopathy, Familial Hypertrophic 27

Articles related to Cardiomyopathy, Familial Hypertrophic 27:

# Title Authors Year
1
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy. ( 26846950 )
2016
2
ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy. ( 27106955 )
2016

Variations for Cardiomyopathy, Familial Hypertrophic 27

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic 27:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ALPK3 NM_020778.4(ALPK3): c.3781C> T (p.Arg1261Ter) single nucleotide variant Uncertain significance rs749465164 GRCh37 Chromosome 15, 85401144: 85401144
2 ALPK3 NM_020778.4(ALPK3): c.3781C> T (p.Arg1261Ter) single nucleotide variant Uncertain significance rs749465164 GRCh38 Chromosome 15, 84857913: 84857913
3 ALPK3 NM_020778.4(ALPK3): c.4736-1G> A single nucleotide variant Pathogenic rs762110595 GRCh38 Chromosome 15, 84862634: 84862634
4 ALPK3 NM_020778.4(ALPK3): c.4736-1G> A single nucleotide variant Pathogenic rs762110595 GRCh37 Chromosome 15, 85405865: 85405865
5 ALPK3 NM_020778.4(ALPK3): c.5294G> A (p.Trp1765Ter) single nucleotide variant Pathogenic rs1555436118 GRCh37 Chromosome 15, 85407861: 85407861
6 ALPK3 NM_020778.4(ALPK3): c.5294G> A (p.Trp1765Ter) single nucleotide variant Pathogenic rs1555436118 GRCh38 Chromosome 15, 84864630: 84864630
7 ALPK3 NM_020778.4(ALPK3): c.3792G> A (p.Trp1264Ter) single nucleotide variant Pathogenic rs1555435531 GRCh38 Chromosome 15, 84857924: 84857924
8 ALPK3 NM_020778.4(ALPK3): c.3792G> A (p.Trp1264Ter) single nucleotide variant Pathogenic rs1555435531 GRCh37 Chromosome 15, 85401155: 85401155

Expression for Cardiomyopathy, Familial Hypertrophic 27

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic 27.

Pathways for Cardiomyopathy, Familial Hypertrophic 27

GO Terms for Cardiomyopathy, Familial Hypertrophic 27

Sources for Cardiomyopathy, Familial Hypertrophic 27

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