CMH27
MCID: CRD242
MIFTS: 24

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 56 73 29 6
Cmh27 56 73
Cardiomyopathy, Hypertrophic, Familial, Type 27 39

Characteristics:

OMIM:

56
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:

31
cardiomyopathy, familial hypertrophic 27:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 618052
OMIM Phenotypic Series 56 PS192600
MeSH 43 D024741

Summaries for Cardiomyopathy, Familial Hypertrophic 27

OMIM : 56 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 testes, and 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.

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic 27

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic 27:

31
# Description HPO Frequency HPO Source Accession
1 cardiomegaly 31 HP:0001640
2 hydrops fetalis 31 HP:0001789
3 prolonged qt interval 31 HP:0001657
4 mitral regurgitation 31 HP:0001653
5 tricuspid regurgitation 31 HP:0005180

Symptoms via clinical synopsis from OMIM:

56
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

Genetic tests related to Cardiomyopathy, Familial Hypertrophic 27:

# Genetic test Affiliating Genes
1 Cardiomyopathy, Familial Hypertrophic 27 29 ALPK3

Anatomical Context for Cardiomyopathy, Familial Hypertrophic 27

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

40
Heart, Testes

Publications for Cardiomyopathy, Familial Hypertrophic 27

Articles related to Cardiomyopathy, Familial Hypertrophic 27:

(show all 22)
# Title Authors PMID Year
1
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. 56 6
27106955 2016
2
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy. 56 6
26846950 2016
3
ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features. 56
28630369 2017
4
A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy: A Classic Single-Gene Disorder. 56
28223422 2017
5
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 6
25173338 2014
6
Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss. 6
22241583 2012
7
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 6
21810866 2011
8
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy. 6
19808356 2009
9
Hypertrophic Cardiomyopathy Overview 6
20301725 2008
10
Mutations in sarcomere protein genes in left ventricular noncompaction. 6
18506004 2008
11
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. 6
18258667 2008
12
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 6
17611253 2007
13
Gene mutations in apical hypertrophic cardiomyopathy. 6
16267253 2005
14
Molecular and muscle pathology in a series of caveolinopathy patients. 6
15580566 2005
15
Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. 6
14672715 2004
16
American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. 6
14607462 2003
17
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. 6
12767666 2003
18
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. 6
10966831 2000
19
An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. 6
8889580 1996
20
Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene. 6
8079988 1994
21
Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. 6
7459150 1980
22
Phenotypic spectrum of ALPK3-related cardiomyopathy. 61
31074094 2019

Variations for Cardiomyopathy, Familial Hypertrophic 27

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic 27:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALPK3 NM_020778.4(ALPK3):c.4736-1G>ASNV Pathogenic 548939 rs762110595 15:85405865-85405865 15:84862634-84862634
2 ALPK3 NM_020778.4(ALPK3):c.5294G>A (p.Trp1765Ter)SNV Pathogenic 548940 rs1555436118 15:85407861-85407861 15:84864630-84864630
3 ALPK3 NM_020778.4(ALPK3):c.3792G>A (p.Trp1264Ter)SNV Pathogenic 548941 rs1555435531 15:85401155-85401155 15:84857924-84857924
4 ALPK3 NC_000015.10:g.84857208dupduplication Pathogenic 689738 15:85400438-85400439 15:84857207-84857208
5 ALPK3 NM_020778.4(ALPK3):c.3781C>T (p.Arg1261Ter)SNV Conflicting interpretations of pathogenicity 488984 rs749465164 15:85401144-85401144 15:84857913-84857913

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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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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