CMH27
MCID: CRD242
MIFTS: 22

Cardiomyopathy, Familial Hypertrophic 27 (CMH27)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic 27

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic 27:

Name: Cardiomyopathy, Familial Hypertrophic 27 57 72 29 6
Cmh27 57 72
Cardiomyopathy, Hypertrophic, Familial, Type 27 39

Characteristics:

OMIM®:

57 (Updated 20-May-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:

31
cardiomyopathy, familial hypertrophic 27:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618052
OMIM Phenotypic Series 57 PS192600
MeSH 44 D024741

Summaries for Cardiomyopathy, Familial Hypertrophic 27

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 20-May-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 : 72 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®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
cardiomegaly
prolonged qt interval
mitral regurgitation
tricuspid regurgitation
thickened myocardium
more
Prenatal Manifestations:
hydrops fetalis

Clinical features from OMIM®:

618052 (Updated 20-May-2021)

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

Publications for Cardiomyopathy, Familial Hypertrophic 27

Articles related to Cardiomyopathy, Familial Hypertrophic 27:

# 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. 6 57
27106955 2016
2
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy. 57 6
26846950 2016
3
ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features. 57
28630369 2017
4
A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy: A Classic Single-Gene Disorder. 57
28223422 2017
5
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 Position
1 ALPK3 NM_020778.4(ALPK3):c.4736-1G>A SNV Pathogenic 548939 rs762110595 GRCh37: 15:85405865-85405865
GRCh38: 15:84862634-84862634
2 ALPK3 NM_020778.4(ALPK3):c.5294G>A (p.Trp1765Ter) SNV Pathogenic 548940 rs1555436118 GRCh37: 15:85407861-85407861
GRCh38: 15:84864630-84864630
3 ALPK3 NM_020778.4(ALPK3):c.3792G>A (p.Trp1264Ter) SNV Pathogenic 548941 rs1555435531 GRCh37: 15:85401155-85401155
GRCh38: 15:84857924-84857924
4 ALPK3 NM_020778.5(ALPK3):c.2470dup (p.Ser824fs) Duplication Pathogenic 689738 rs1567093598 GRCh37: 15:85400438-85400439
GRCh38: 15:84857207-84857208
5 ALPK3 NM_020778.4(ALPK3):c.431_435CCAGG[3] (p.Glu148fs) Microsatellite Pathogenic 422750 rs527847958 GRCh37: 15:85360505-85360506
GRCh38: 15:84817274-84817275
6 ALPK3 NM_020778.5(ALPK3):c.913C>T (p.Gln305Ter) SNV Pathogenic 1028191 GRCh37: 15:85383423-85383423
GRCh38: 15:84840192-84840192
7 ALPK3 NM_020778.4(ALPK3):c.3781C>T (p.Arg1261Ter) SNV Pathogenic 488984 rs749465164 GRCh37: 15:85401144-85401144
GRCh38: 15:84857913-84857913
8 ALPK3 NM_020778.4:c.5019del Deletion Likely pathogenic 993027 GRCh37:
GRCh38:
9 ALPK3 NM_020778.5(ALPK3):c.322G>A (p.Val108Met) SNV Uncertain significance 1028192 GRCh37: 15:85382228-85382228
GRCh38: 15:84838997-84838997

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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