Cardiomyopathy, Familial Hypertrophic, 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CMH6 MCID: CRD232 MIFTS: 38	Cardiomyopathy, Familial Hypertrophic, 6 (CMH6) Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 6

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 6:

Name: Cardiomyopathy, Familial Hypertrophic, 6 ⁵⁸ ⁷⁴

Cardiomyopathy, Familial Hypertrophic 6 ¹² ⁷⁶ ¹³

Cmh6 ⁵⁸ ¹² ⁷⁶

Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome ⁷⁶ ⁶

Familial Hypertrophic Cardiomyopathy 6 ³⁰ ⁶

Hypertrophic Cardiomyopathy 6 ¹² ¹⁵

Cardiomyopathy, Hypertrophic, Familial, Type 6 ⁴¹

Cardiomyopathy, Hypertrophic 6 ⁵⁸

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see )

HPO:

³³

cardiomyopathy, familial hypertrophic, 6:
Inheritance heterogeneous autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110312

OMIM ⁵⁸ 600858

MeSH ⁴⁵ D024741

MedGen ⁴³ C1833236

SNOMED-CT via HPO ⁷⁰ 195060002 233873004 233917008 more

UMLS ⁷⁴ C1833236

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Summaries for Cardiomyopathy, Familial Hypertrophic, 6

UniProtKB/Swiss-Prot : ⁷⁶ Cardiomyopathy, familial hypertrophic 6: A hereditary 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. CMH6 patients present Wolff-Parkinson-White ventricular preexcitation, enlarged myocytes without myofiber disarray, and glycogen-containing cytosolic vacuoles within cardiomyocytes.

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 6, also known as cardiomyopathy, familial hypertrophic 6, is related to wolff-parkinson-white syndrome and hypertrophic cardiomyopathy. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 6 is PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2), and among its related pathways/superpathways are Cardiac conduction and Dilated cardiomyopathy (DCM). Affiliated tissues include heart and skeletal muscle, and related phenotypes are hypertrophic cardiomyopathy and atrioventricular block

Disease Ontology : ¹² A familial hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2).

OMIM : ⁵⁸ Mutations in the PRKAG2 gene (602743) give rise to a moderate, essentially heart-specific, nonlysosomal glycogenosis with clinical onset typically in late adolescence or in the third decade of life, ventricular pre-excitation predisposing to supraventricular arrhythmias, mild-to-severe cardiac hypertrophy, enhanced risk of sudden cardiac death in midlife, and autosomal dominant inheritance with full penetrance (summary by Burwinkel et al., 2005). (600858)

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Related Diseases for Cardiomyopathy, Familial Hypertrophic, 6

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

Diseases related to Cardiomyopathy, Familial Hypertrophic, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	wolff-parkinson-white syndrome	30.6	PRKAG2 TNNI3
2	hypertrophic cardiomyopathy	30.3	PRKAG2 TNNI3
3	cardiomyopathy, familial hypertrophic, 1	10.5
4	fabry disease	9.9	PRKAG2 TNNI3
5	atrial standstill 1	9.8	PRKAG2 TNNI3

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 6:

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Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 6

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 6:

³³ (show all 9)

#	Description	HPO Source Accession
1	hypertrophic cardiomyopathy ³³	HP:0001639
2	atrioventricular block ³³	HP:0001678
3	wolff-parkinson-white syndrome ³³	HP:0001716
4	ventricular preexcitation ³³	HP:0004309
5	atrial fibrillation ³³	HP:0005110
6	sinus bradycardia ³³	HP:0001688
7	asymmetric septal hypertrophy ³³	HP:0001670
8	left bundle branch block ³³	HP:0011713
9	myofiber disarray ³³	HP:0031318

Symptoms via clinical synopsis from OMIM:

⁵⁸

Cardiovascular Heart:
hypertrophic cardiomyopathy
atrioventricular block
atrial fibrillation
sinus bradycardia
wolff-parkinson-white ventricular preexcitation
more

Muscle Soft Tissue:
glycogenosis of skeletal muscle, mild (in some patients)

Clinical features from OMIM:

600858

MGI Mouse Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 6:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.26	LMOD2 PRKAG2 TMOD1 TNNI3
2	muscle	MP:0005369	8.92	LMOD2 PRKAG2 TMOD1 TNNI3

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Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 6

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 6

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Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 6

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 6:

#	Genetic test	Affiliating Genes
1	Familial Hypertrophic Cardiomyopathy 6 ³⁰	PRKAG2

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Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 6

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 6:

⁴²

Heart, Skeletal Muscle

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Publications for Cardiomyopathy, Familial Hypertrophic, 6

Articles related to Cardiomyopathy, Familial Hypertrophic, 6:

(show all 16)

#	Title	Authors	Year
1	Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )	Kalia SS...Miller DT	2017
2	ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )	ACMG Board of Directors	2015
3	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). ( 25173338 )	Authors/Task Force members...Watkins H	2014
4	ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )	Green RC...American College of Medical Genetics and Genomics	2013
5	Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). ( 21267010 )	Pinto YM...Elliott PM	2011
6	Severe hypertrophic cardiomyopathy in an infant with a novel PRKAG2 gene mutation: potential differences between infantile and adult onset presentation. ( 19787389 )	Kelly BP...Ensing GJ	2009
7	Shared genetic causes of cardiac hypertrophy in children and adults. ( 18403758 )	Morita H...Seidman CE	2008
8	A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis. ( 16487706 )	Lafor?t P...Duboc D	2006
9	Glycogen storage diseases presenting as hypertrophic cardiomyopathy. ( 15673802 )	Arad M...Seidman JG	2005
10	Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. ( 11827995 )	Arad M...Seidman CE	2002
11	A gene responsible for familial Wolff-Parkinson-White syndrome. ( 11586962 )	Anderson KP...Josephson ME	2001
12	Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. ( 11371514 )	Blair E...Watkins H	2001
13	Genetically transmitted ventricular pre-excitation in a family with hypertrophic cardiomyopathy. ( 10820940 )	Sinha SC...Arora R	2000
14	Electrophysiologic characteristics of accessory atrioventricular connections in an inherited form of Wolff-Parkinson-White syndrome. ( 10355918 )	Mehdirad AA...Benson DW	1999
15	Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome progressing to ventricular dilation. ( 8644606 )	Shibata M...Nakano T	1996
16	Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. ( 7657794 )	MacRae CA...Rowland E	1995

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Genes for Cardiomyopathy, Familial Hypertrophic, 6

Genes related to Cardiomyopathy, Familial Hypertrophic, 6 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PRKAG2	Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2	Protein Coding	1327.85	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	11371514 20301725 21267010 (more) 23788249 25173338 25356965 27854360 11827995 7657794 18403758 16487706 15673802 19787389 10820940 11586962 10355918
2	TNNI3	Troponin I3, Cardiac Type	Protein Coding	25	Risk factor ⁶
3	LMOD1	Leiomodin 1	Protein Coding	16.8	DISEASES inferred ¹⁵
4	LMOD2	Leiomodin 2	Protein Coding	7.95	DISEASES inferred ¹⁵
5	TMOD1	Tropomodulin 1	Protein Coding	7.32	DISEASES inferred ¹⁵

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Variations for Cardiomyopathy, Familial Hypertrophic, 6

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 6:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	PRKAG2	p.Arg302Gln	VAR_013264	rs121908987
2	PRKAG2	p.His383Arg	VAR_013266	rs121908988
3	PRKAG2	p.Thr400Asn	VAR_013267	rs28938173
4	PRKAG2	p.Asn488Ile	VAR_013268	rs121908989

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 6:

⁶ (show top 50) (show all 214)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PRKAG2	NM_016203.3(PRKAG2): c.905G> A (p.Arg302Gln)	single nucleotide variant	Pathogenic	rs121908987	GRCh37	Chromosome 7, 151273498: 151273498
2	PRKAG2	NM_016203.3(PRKAG2): c.905G> A (p.Arg302Gln)	single nucleotide variant	Pathogenic	rs121908987	GRCh38	Chromosome 7, 151576412: 151576412
3	PRKAG2	NM_016203.3(PRKAG2): c.1148A> G (p.His383Arg)	single nucleotide variant	Uncertain significance	rs121908988	GRCh37	Chromosome 7, 151265887: 151265887
4	PRKAG2	NM_016203.3(PRKAG2): c.1148A> G (p.His383Arg)	single nucleotide variant	Uncertain significance	rs121908988	GRCh38	Chromosome 7, 151568801: 151568801
5	PRKAG2	NM_016203.3(PRKAG2): c.1050_1051insTTA (p.Arg350_Glu351insLeu)	insertion	Pathogenic	rs587776643	GRCh37	Chromosome 7, 151269750: 151269751
6	PRKAG2	NM_016203.3(PRKAG2): c.1050_1051insTTA (p.Arg350_Glu351insLeu)	insertion	Pathogenic	rs587776643	GRCh38	Chromosome 7, 151572664: 151572665
7	PRKAG2	NM_016203.3(PRKAG2): c.1199C> A (p.Thr400Asn)	single nucleotide variant	Likely pathogenic	rs28938173	GRCh37	Chromosome 7, 151265836: 151265836
8	PRKAG2	NM_016203.3(PRKAG2): c.1199C> A (p.Thr400Asn)	single nucleotide variant	Likely pathogenic	rs28938173	GRCh38	Chromosome 7, 151568750: 151568750
9	PRKAG2	NM_016203.3(PRKAG2): c.1463A> T (p.Asn488Ile)	single nucleotide variant	Pathogenic	rs121908989	GRCh37	Chromosome 7, 151261285: 151261285
10	PRKAG2	NM_016203.3(PRKAG2): c.1463A> T (p.Asn488Ile)	single nucleotide variant	Pathogenic	rs121908989	GRCh38	Chromosome 7, 151564199: 151564199
11	PRKAG2	NM_016203.3(PRKAG2): c.1459T> C (p.Tyr487His)	single nucleotide variant	Pathogenic	rs267606976	GRCh37	Chromosome 7, 151261289: 151261289
12	PRKAG2	NM_016203.3(PRKAG2): c.1459T> C (p.Tyr487His)	single nucleotide variant	Pathogenic	rs267606976	GRCh38	Chromosome 7, 151564203: 151564203
13	PRKAG2	NM_016203.3(PRKAG2): c.1589A> G (p.His530Arg)	single nucleotide variant	Pathogenic	rs267606977	GRCh37	Chromosome 7, 151257699: 151257699
14	PRKAG2	NM_016203.3(PRKAG2): c.1589A> G (p.His530Arg)	single nucleotide variant	Pathogenic	rs267606977	GRCh38	Chromosome 7, 151560613: 151560613
15	PRKAG2	NM_016203.3(PRKAG2): c.1516G> C (p.Glu506Gln)	single nucleotide variant	Likely pathogenic	rs267606978	GRCh37	Chromosome 7, 151261232: 151261232
16	PRKAG2	NM_016203.3(PRKAG2): c.1516G> C (p.Glu506Gln)	single nucleotide variant	Likely pathogenic	rs267606978	GRCh38	Chromosome 7, 151564146: 151564146
17	PRKAG2	NM_016203.3(PRKAG2): c.1642T> C (p.Ser548Pro)	single nucleotide variant	Pathogenic	rs267606979	GRCh37	Chromosome 7, 151257646: 151257646
18	PRKAG2	NM_016203.3(PRKAG2): c.1642T> C (p.Ser548Pro)	single nucleotide variant	Pathogenic	rs267606979	GRCh38	Chromosome 7, 151560560: 151560560
19	TNNI3	NM_000363.4(TNNI3): c.244C> T (p.Pro82Ser)	single nucleotide variant	risk factor	rs77615401	GRCh37	Chromosome 19, 55667607: 55667607
20	TNNI3	NM_000363.4(TNNI3): c.244C> T (p.Pro82Ser)	single nucleotide variant	risk factor	rs77615401	GRCh38	Chromosome 19, 55156239: 55156239
21	TNNI3; TNNT1	NM_003283.5(TNNT1): c.-20A> G	single nucleotide variant	Benign/Likely benign	rs9636153	GRCh37	Chromosome 19, 55660537: 55660537
22	TNNI3; TNNT1	NM_003283.5(TNNT1): c.-20A> G	single nucleotide variant	Benign/Likely benign	rs9636153	GRCh38	Chromosome 19, 55149169: 55149169
23	TNNI3; TNNT1	NM_003283.5(TNNT1): c.35A> G (p.Glu12Gly)	single nucleotide variant	Benign/Likely benign	rs112562759	GRCh37	Chromosome 19, 55658387: 55658387
24	TNNI3; TNNT1	NM_003283.5(TNNT1): c.35A> G (p.Glu12Gly)	single nucleotide variant	Benign/Likely benign	rs112562759	GRCh38	Chromosome 19, 55147019: 55147019
25	PRKAG2	NM_016203.3(PRKAG2): c.1593G> A (p.Arg531=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148197254	GRCh37	Chromosome 7, 151257695: 151257695
26	PRKAG2	NM_016203.3(PRKAG2): c.1593G> A (p.Arg531=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148197254	GRCh38	Chromosome 7, 151560609: 151560609
27	PRKAG2	NM_016203.3(PRKAG2): c.298G> A (p.Gly100Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs79474211	GRCh37	Chromosome 7, 151478406: 151478406
28	PRKAG2	NM_016203.3(PRKAG2): c.298G> A (p.Gly100Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs79474211	GRCh38	Chromosome 7, 151781320: 151781320
29	TNNI3	NM_000363.4(TNNI3): c.12-7delC	deletion	Conflicting interpretations of pathogenicity	rs370714315	GRCh37	Chromosome 19, 55668683: 55668683
30	TNNI3	NM_000363.4(TNNI3): c.12-7delC	deletion	Conflicting interpretations of pathogenicity	rs370714315	GRCh38	Chromosome 19, 55157315: 55157315
31	DNAAF3; TNNI3	NM_000363.4(TNNI3): c.150+13G> A	single nucleotide variant	Benign/Likely benign	rs73617692	GRCh37	Chromosome 19, 55667958: 55667958
32	DNAAF3; TNNI3	NM_000363.4(TNNI3): c.150+13G> A	single nucleotide variant	Benign/Likely benign	rs73617692	GRCh38	Chromosome 19, 55156590: 55156590
33	TNNI3	NM_000363.4(TNNI3): c.198G> A (p.Glu66=)	single nucleotide variant	Benign/Likely benign	rs3729710	GRCh37	Chromosome 19, 55667653: 55667653
34	TNNI3	NM_000363.4(TNNI3): c.198G> A (p.Glu66=)	single nucleotide variant	Benign/Likely benign	rs3729710	GRCh38	Chromosome 19, 55156285: 55156285
35	DNAAF3; TNNI3	NM_000363.4(TNNI3): c.25-8T> A	single nucleotide variant	Benign/Likely benign	rs3729836	GRCh37	Chromosome 19, 55668509: 55668509
36	DNAAF3; TNNI3	NM_000363.4(TNNI3): c.25-8T> A	single nucleotide variant	Benign/Likely benign	rs3729836	GRCh38	Chromosome 19, 55157141: 55157141
37	PRKAG2	NM_016203.3(PRKAG2): c.*3G> A	single nucleotide variant	Benign/Likely benign	rs113234987	GRCh37	Chromosome 7, 151254284: 151254284
38	PRKAG2	NM_016203.3(PRKAG2): c.*3G> A	single nucleotide variant	Benign/Likely benign	rs113234987	GRCh38	Chromosome 7, 151557198: 151557198
39	PRKAG2	NM_016203.3(PRKAG2): c.111T> A (p.Ile37=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144426409	GRCh37	Chromosome 7, 151573595: 151573595
40	PRKAG2	NM_016203.3(PRKAG2): c.111T> A (p.Ile37=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144426409	GRCh38	Chromosome 7, 151876510: 151876510
41	PRKAG2	NM_016203.3(PRKAG2): c.114+12C> T	single nucleotide variant	Benign/Likely benign	rs77902041	GRCh37	Chromosome 7, 151573580: 151573580
42	PRKAG2	NM_016203.3(PRKAG2): c.114+12C> T	single nucleotide variant	Benign/Likely benign	rs77902041	GRCh38	Chromosome 7, 151876495: 151876495
43	PRKAG2	NM_016203.3(PRKAG2): c.123C> T (p.Ser41=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs397517263	GRCh37	Chromosome 7, 151483619: 151483619
44	PRKAG2	NM_016203.3(PRKAG2): c.123C> T (p.Ser41=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs397517263	GRCh38	Chromosome 7, 151786533: 151786533
45	PRKAG2	NM_016203.3(PRKAG2): c.1390G> A (p.Asp464Asn)	single nucleotide variant	Uncertain significance	rs397517264	GRCh37	Chromosome 7, 151262815: 151262815
46	PRKAG2	NM_016203.3(PRKAG2): c.1390G> A (p.Asp464Asn)	single nucleotide variant	Uncertain significance	rs397517264	GRCh38	Chromosome 7, 151565729: 151565729
47	PRKAG2	NM_016203.3(PRKAG2): c.1623T> C (p.Ile541=)	single nucleotide variant	Benign/Likely benign	rs28763998	GRCh37	Chromosome 7, 151257665: 151257665
48	PRKAG2	NM_016203.3(PRKAG2): c.1623T> C (p.Ile541=)	single nucleotide variant	Benign/Likely benign	rs28763998	GRCh38	Chromosome 7, 151560579: 151560579
49	PRKAG2	NM_016203.3(PRKAG2): c.207G> A (p.Pro69=)	single nucleotide variant	Benign/Likely benign	rs144384573	GRCh37	Chromosome 7, 151478497: 151478497
50	PRKAG2	NM_016203.3(PRKAG2): c.207G> A (p.Pro69=)	single nucleotide variant	Benign/Likely benign	rs144384573	GRCh38	Chromosome 7, 151781411: 151781411

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Expression for Cardiomyopathy, Familial Hypertrophic, 6

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 6.

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Pathways for Cardiomyopathy, Familial Hypertrophic, 6

Pathways related to Cardiomyopathy, Familial Hypertrophic, 6 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Cardiac conduction ⁶⁷ Show member pathways Classical Kir channels ⁶⁷ Ion homeostasis ⁶⁷ Ion transport by P-type ATPases ⁶⁷ Muscle contraction ⁶⁷ Phase 1 - inactivation of fast Na+ channels ⁶⁷ Phase 3 - rapid repolarisation ⁶⁷ Phase 4 - resting membrane potential ⁶⁷ Physiological factors ⁶⁷ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁷ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁷ Tandem pore domain potassium channels ⁶⁷ TWIK related potassium channel (TREK) ⁶⁷ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁷ TWIK-related spinal cord K+ channel (TRESK) ⁶⁷ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁷	11.86	LMOD1 TMOD1 TNNI3
2	Dilated cardiomyopathy (DCM) ³⁸ Show member pathways Hypertrophic cardiomyopathy (HCM) ³⁸	11.4	PRKAG2 TNNI3
3	Striated Muscle Contraction ¹ ⁶⁷	10.48	TMOD1 TNNI3

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GO Terms for Cardiomyopathy, Familial Hypertrophic, 6

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 6 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeleton	GO:0005856	9.5	LMOD1 LMOD2 TMOD1
2	actin filament	GO:0005884	9.43	LMOD1 LMOD2 TMOD1
3	striated muscle thin filament	GO:0005865	9.33	LMOD1 LMOD2 TMOD1
4	sarcomere	GO:0030017	9.26	LMOD1 LMOD2 TMOD1 TNNI3
5	myofibril	GO:0030016	8.92	LMOD1 LMOD2 TMOD1 TNNI3

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 6 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	muscle contraction	GO:0006936	9.46	LMOD1 LMOD2 TMOD1 TNNI3
2	positive regulation of actin filament polymerization	GO:0030838	9.37	LMOD1 LMOD2
3	muscle filament sliding	GO:0030049	9.32	TMOD1 TNNI3
4	actin nucleation	GO:0045010	9.26	LMOD1 LMOD2
5	myofibril assembly	GO:0030239	9.13	LMOD1 LMOD2 TMOD1
6	pointed-end actin filament capping	GO:0051694	8.8	LMOD1 LMOD2 TMOD1

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 6 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	actin binding	GO:0003779	9.26	LMOD1 LMOD2 TMOD1 TNNI3
2	actin filament binding	GO:0051015	9.16	TMOD1 TNNI3
3	tropomyosin binding	GO:0005523	8.8	LMOD1 LMOD2 TMOD1

Sources

Sources for Cardiomyopathy, Familial Hypertrophic, 6

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

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Cardiomyopathy, Familial Hypertrophic, 6 (CMH6)

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 6

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 6:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Cardiomyopathy, Familial Hypertrophic, 6

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 6

Diseases in the Hypertrophic Cardiomyopathy family:

Diseases related to Cardiomyopathy, Familial Hypertrophic, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 6:

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 6

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 6:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 6:

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 6

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 6

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 6:

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 6

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Genes for Cardiomyopathy, Familial Hypertrophic, 6

Genes related to Cardiomyopathy, Familial Hypertrophic, 6 (1 elite genes):

Variations for Cardiomyopathy, Familial Hypertrophic, 6

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 6:

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 6:

Expression for Cardiomyopathy, Familial Hypertrophic, 6

Pathways for Cardiomyopathy, Familial Hypertrophic, 6

Pathways related to Cardiomyopathy, Familial Hypertrophic, 6 according to GeneCards Suite gene sharing:

GO Terms for Cardiomyopathy, Familial Hypertrophic, 6

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 6 according to GeneCards Suite gene sharing:

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 6 according to GeneCards Suite gene sharing:

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 6 according to GeneCards Suite gene sharing:

Sources for Cardiomyopathy, Familial Hypertrophic, 6