Cardiomyopathy, Familial Hypertrophic 27 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Respiratory diseases Blood diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618052

OMIM Phenotypic Series ⁵⁶ PS192600

MeSH ⁴³ D024741

MedGen ⁴¹ C4748014 CN252335

SNOMED-CT via HPO ⁶⁸ 111287006 111975006 258211005 more

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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.

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Related Diseases for Cardiomyopathy, Familial Hypertrophic 27

Diseases in the Hypertrophic Cardiomyopathy family:

Cardiomyopathy, Familial Hypertrophic, 2	Cardiomyopathy, Familial Hypertrophic, 3
Cardiomyopathy, Familial Hypertrophic, 4	Cardiomyopathy, Familial Hypertrophic, 1
Cardiomyopathy, Infantile Hypertrophic	Cardiomyopathy, Familial Hypertrophic, 6
Cardiomyopathy, Familial Hypertrophic, 25	Cardiomyopathy, Familial Hypertrophic, 8
Cardiomyopathy, Familial Hypertrophic, 10	Cardiomyopathy, Familial Hypertrophic, 11
Cardiomyopathy, Familial Hypertrophic, 12	Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 14	Cardiomyopathy, Familial Hypertrophic, 15
Cardiomyopathy, Familial Hypertrophic, 7	Cardiomyopathy, Familial Hypertrophic, 9
Cardiomyopathy, Familial Hypertrophic, 16	Cardiomyopathy, Familial Hypertrophic, 17
Cardiomyopathy, Familial Hypertrophic, 18	Cardiomyopathy, Familial Hypertrophic, 20
Cardiomyopathy, Familial Hypertrophic, 21	Cardiomyopathy, Familial Hypertrophic, 26
Cardiomyopathy, Familial Hypertrophic 27	Hypertrophic Cardiomyopathy Due to Intensive Athletic Training
Rare Familial Disorder with Hypertrophic Cardiomyopathy

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Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic 27

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic 27:

³¹

#	Description	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

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Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic 27

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

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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

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Anatomical Context for Cardiomyopathy, Familial Hypertrophic 27

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

⁴⁰

Heart, Testes

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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	Phelan DG...Lockhart PJ	27106955	2016
2	Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy. ⁵⁶ ⁶	Almomani R...van de Laar IM	26846950	2016
3	ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features. ⁵⁶	Caglayan AO...Gunel M	28630369	2017
4	A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy: A Classic Single-Gene Disorder. ⁵⁶	Li L...Marian AJ	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	Authors/Task Force members...Watkins H	25173338	2014
6	Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss. ⁶	Gutierrez Cortes N...Rocher C	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	Ackerman MJ...European Heart Rhythm Association (EHRA)	21810866	2011
8	Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy. ⁶	Theis JL...Ackerman MJ	19808356	2009
9	Hypertrophic Cardiomyopathy Overview ⁶	Cirino AL...Ho C	20301725	2008
10	Mutations in sarcomere protein genes in left ventricular noncompaction. ⁶	Klaassen S...Thierfelder L	18506004	2008
11	Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. ⁶	Waldmuller S...Scheffold T	18258667	2008
12	Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. ⁶	Monserrat L...Castro-Beiras A	17611253	2007
13	Gene mutations in apical hypertrophic cardiomyopathy. ⁶	Arad M...Seidman CE	16267253	2005
14	Molecular and muscle pathology in a series of caveolinopathy patients. ⁶	Fulizio L...Angelini C	15580566	2005
15	Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. ⁶	Hayashi T...Kimura A	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	Maron BJ...Committee for Practice Guidelines. European Society of Cardiology	14607462	2003
17	A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. ⁶	Taylor RW...Turnbull DM	12767666	2003
18	Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. ⁶	Olson TM...Fananapazir L	10966831	2000
19	An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. ⁶	Merante F...Robinson BH	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	Merante F...Robinson BH	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	Al Senaidi K...Al-Maawali A	31074094	2019

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Genes for Cardiomyopathy, Familial Hypertrophic 27

Genes related to Cardiomyopathy, Familial Hypertrophic 27 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ALPK3	Alpha Kinase 3	Protein Coding	1018.13	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	26846950 27106955

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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>A	SNV	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.84857208dup	duplication	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

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Expression for Cardiomyopathy, Familial Hypertrophic 27

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

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Pathways for Cardiomyopathy, Familial Hypertrophic 27

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GO Terms for Cardiomyopathy, Familial Hypertrophic 27

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Cardiomyopathy, Familial Hypertrophic 27 (CMH27)

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic 27

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic 27:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Cardiomyopathy, Familial Hypertrophic 27

Related Diseases for Cardiomyopathy, Familial Hypertrophic 27

Diseases in the Hypertrophic Cardiomyopathy family:

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic 27

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic 27:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic 27

Genetic Tests for Cardiomyopathy, Familial Hypertrophic 27

Genetic tests related to Cardiomyopathy, Familial Hypertrophic 27:

Anatomical Context for Cardiomyopathy, Familial Hypertrophic 27

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

Publications for Cardiomyopathy, Familial Hypertrophic 27

Articles related to Cardiomyopathy, Familial Hypertrophic 27:

Genes for Cardiomyopathy, Familial Hypertrophic 27

Genes related to Cardiomyopathy, Familial Hypertrophic 27 (1 elite genes):

Variations for Cardiomyopathy, Familial Hypertrophic 27

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic 27:

Expression for Cardiomyopathy, Familial Hypertrophic 27

Pathways for Cardiomyopathy, Familial Hypertrophic 27

GO Terms for Cardiomyopathy, Familial Hypertrophic 27

Sources for Cardiomyopathy, Familial Hypertrophic 27