Cardiomyopathy, Familial Hypertrophic, 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CRD086 MIFTS: 52	Cardiomyopathy, Familial Hypertrophic, 1 Categories: Genetic diseases, Cardiovascular diseases, Rare diseases
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Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 1

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 1:

Name: Cardiomyopathy, Familial Hypertrophic, 1 ⁵⁷ ¹³ ⁷³

Asymmetric Septal Hypertrophy ⁵⁷ ⁷⁶ ⁷⁵ ²⁹ ⁶ ⁷³

Cmh1 ⁵⁷ ¹² ⁷⁵

Hypertrophic Subaortic Stenosis, Idiopathic ⁵⁷ ⁷⁵

Cardiomyopathy, Familial Hypertrophic 1 ¹² ⁷⁵

Familial Hypertrophic Cardiomyopathy 1 ²⁹ ⁶

Cardiomyopathy, Familial Hypertrophic ⁵⁷ ⁷⁵

Ventricular Hypertrophy, Hereditary ⁵⁷ ⁷⁵

Hypertrophic Cardiomyopathy 1 ¹² ¹⁵

Hypertrophic Cardiomyopathy ⁷⁵ ⁷³

Cmh ⁵⁷ ⁷⁵

Ash ⁵⁷ ⁷⁵

Cardiomyopathy, Hypertrophic, Familial, Type 1 ⁴⁰

Cardiomyopathy, Hypertrophic, 1, Digenic ⁵⁷

Cardiomyopathy, Hypertrophic, Familial ⁷³

Familial Hypertrophic Cardiomyopathy ⁷⁵

Asymmetric Septal Hypertrophy; Ash ⁵⁷

Cardiomyopathy, Hypertrophic, 1 ⁵⁷

Fhc ⁷⁵

Hcm ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

cardiomyopathy, familial hypertrophic, 1:
Inheritance autosomal dominant inheritance
Mortality/Aging sudden death

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 192600

Disease Ontology ¹² DOID:0110307

MedGen ⁴² C3495498 C0205700 C0597124 more

MeSH ⁴⁴ D024741

SNOMED-CT via HPO ⁶⁹ 263681008 42343007 84114007 more

UMLS ⁷³ C3495498 C0205700

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Summaries for Cardiomyopathy, Familial Hypertrophic, 1

UniProtKB/Swiss-Prot : ⁷⁵ Cardiomyopathy, familial hypertrophic: 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.

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 1, also known as asymmetric septal hypertrophy, is related to hypertrophic cardiomyopathy and cardiomyopathy, familial hypertrophic, 4. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 1 is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are PAK Pathway and Allograft rejection. Affiliated tissues include heart, and related phenotypes are congestive heart failure and asymmetric septal hypertrophy

OMIM : ⁵⁷ Hereditary ventricular hypertrophy (CMH, HCM, ASH, or IHSS) in early stages produces a presystolic gallop due to an atrial heart sound, and EKG changes of ventricular hypertrophy. Progressive ventricular outflow obstruction may cause palpitation associated with arrhythmia, congestive heart failure, and sudden death. Seidman (2000) reviewed studies of hypertrophic cardiomyopathy in man and mouse. (192600)

Disease Ontology : ¹² A hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the MYH7 gene on chromosome 14q12.

Wikipedia : ⁷⁶ Hypertrophic cardiomyopathy (HCM) is a condition in which a portion of the heart becomes thickened... more...

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Related Diseases for Cardiomyopathy, Familial Hypertrophic, 1

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, 19
Cardiomyopathy, Familial Hypertrophic, 20	Cardiomyopathy, Familial Hypertrophic, 21
Cardiomyopathy, Familial Hypertrophic, 26	Hypertrophic Cardiomyopathy Due to Intensive Athletic Training

Diseases related to Cardiomyopathy, Familial Hypertrophic, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)

#	Related Disease	Score	Top Affiliating Genes
1	hypertrophic cardiomyopathy	32.0	CAV3 MYBPC3 MYH6 MYH7
2	cardiomyopathy, familial hypertrophic, 4	12.4
3	cardiomyopathy, familial hypertrophic, 2	12.4
4	cardiomyopathy, familial hypertrophic, 3	12.4
5	cardiomyopathy, familial hypertrophic, 6	12.4
6	cardiomyopathy, familial hypertrophic, 8	12.4
7	cardiomyopathy, familial hypertrophic, 10	12.4
8	cardiomyopathy, familial hypertrophic, 11	12.4
9	cardiomyopathy, familial hypertrophic, 12	12.4
10	cardiomyopathy, familial hypertrophic, 13	12.4
11	cardiomyopathy, familial hypertrophic, 14	12.4
12	cardiomyopathy, familial hypertrophic, 15	12.4
13	cardiomyopathy, familial hypertrophic, 7	12.4
14	cardiomyopathy, familial hypertrophic, 9	12.4
15	cardiomyopathy, familial hypertrophic, 16	12.4
16	cardiomyopathy, familial hypertrophic, 17	12.4
17	cardiomyopathy, familial hypertrophic, 18	12.4
18	cardiomyopathy, familial hypertrophic, 19	12.4
19	cardiomyopathy, familial hypertrophic, 20	12.4
20	cardiomyopathy, familial hypertrophic, 26	12.4
21	cardiomyopathy, familial hypertrophic, 25	12.3
22	hypercholesterolemia, familial	11.5
23	histiocytosis-lymphadenopathy plus syndrome	11.3
24	fitz-hugh-curtis syndrome	11.2
25	hyperpigmentation with or without hypopigmentation, familial progressive	11.1
26	cardiomyopathy, familial hypertrophic, 21	11.0
27	myopathy, distal, 1	10.5	MYH6 MYH7
28	myosin storage myopathy	10.5	MYH6 MYH7
29	cardiac conduction defect	10.3	MYBPC3 MYH7
30	scapuloperoneal myopathy	10.3	MYH6 MYH7
31	distal muscular dystrophy	10.3	CAV3 MYH7
32	myocarditis	10.2
33	familial isolated dilated cardiomyopathy	10.2	MYBPC3 MYH6 MYH7
34	intrinsic cardiomyopathy	10.1	MYBPC3 MYH6 MYH7
35	atrial standstill 1	10.1	MYBPC3 MYH6 MYH7
36	acute myocarditis	10.1
37	left ventricular noncompaction	10.0	MYBPC3 MYH6 MYH7
38	myocardial infarction	10.0
39	pneumoconiosis	9.9
40	aleutian mink disease	9.9	CASP10 CASP7
41	kearns-sayre syndrome	9.9
42	aortic valve disease 2	9.9
43	malignant hypertension	9.9
44	heart disease	9.9
45	hypertensive heart disease	9.9
46	inferior myocardial infarction	9.9
47	anteroseptal myocardial infarction	9.9
48	hypereosinophilic syndrome	9.9
49	giant cell myocarditis	9.9
50	accessory mitral valve tissue	9.9

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 1:

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Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 1

Symptoms via clinical synopsis from OMIM:

⁵⁷

Cardiovascular Heart:
asymmetric septal hypertrophy
apical hypertrophy (in some patients)
subaortic stenosis
hypertrophic cardiomyopathy
presystolic gallop
more

Clinical features from OMIM:

192600

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 1:

³²

#	Description	HPO Source Accession
1	congestive heart failure ³²	HP:0001635
2	asymmetric septal hypertrophy ³²	HP:0001670
3	subvalvular aortic stenosis ³²	HP:0001682
4	abnormality of metabolism/homeostasis ³²	HP:0001939
5	arrhythmia ³²	HP:0011675

MGI Mouse Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 1:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.56	BTC CASP1 CASP3 CASP7 CAV3 MYBPC3
2	muscle	MP:0005369	9.17	BTC CASP3 CAV3 MYBPC3 MYH6 MYH7

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Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 1

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 1

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Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 1

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 1:

#	Genetic test	Affiliating Genes
1	Familial Hypertrophic Cardiomyopathy 1 ²⁹	CAV3 MYH6 MYH7 MYLK2
2	Asymmetric Septal Hypertrophy ²⁹

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Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 1

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 1:

⁴¹

Heart

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Publications for Cardiomyopathy, Familial Hypertrophic, 1

Articles related to Cardiomyopathy, Familial Hypertrophic, 1:

(show all 14)

#	Title	Authors	Year
1	Effect of concomitant asymmetric septal hypertrophy when assessing the severity of aortic valve stenosis: an in-vitro study. ( 23167227 )	Gaillard E....Durand L.G.	2012
2	Left ventricular outflow tract obstruction in the presence of asymmetric septal hypertrophy and accessory mitral valve tissue treated with alcohol septal ablation. ( 18490281 )	Kim M.S....Salcedo E.E.	2008
3	Difference in systolic motion velocity of the left ventricular posterior wall in patients with asymmetric septal hypertrophy and prior anteroseptal myocardial infarction. Evaluation by pulsed tissue Doppler imaging. ( 9687825 )	Oki T....Ito S.	1998
4	Myocardial glucose metabolism is different between hypertrophic cardiomyopathy and hypertensive heart disease associated with asymmetrical septal hypertrophy. ( 9261931 )	Shiba N....Shirato K.	1997
5	Acute myocarditis with eosinophilia presenting as asymmetric septal hypertrophy during pregnancy. ( 9158301 )	Sagesaka T....Dohba N.	1997
6	A case of hypereosinophilic syndrome with asymmetric septal hypertrophy. ( 2071548 )	Nunoda S....Genda A.	1991
7	Acute myocarditis presenting as asymmetric septal hypertrophy. ( 2706576 )	Wilansky S....Pollick C.	1989
8	Idiopathic giant cell myocarditis accompanied by asymmetric septal hypertrophy. ( 2955139 )	Hori T....Suoh M.	1987
9	Malignant hypertension and asymmetric septal hypertrophy in a 43-year-old black man. ( 3765616 )	Rutledge J.C....Silva J.	1986
10	Reversible asymmetric septal hypertrophy in acute myocarditis. Serial findings of two-dimensional echocardiogram and thallium-201 scintigram. ( 3162041 )	Kondo M....Matsuda T.	1985
11	Asymmetric septal hypertrophy in Kearns-Sayre syndrome. ( 6541986 )	Kupari M.	1984
12	Inferior myocardial infarction as a cause of asymmetric septal hypertrophy. An echocardiographic study. ( 148208 )	Henning H....Karliner J.S.	1978
13	Dynamic left ventricular outflow tract obstruction and systolic anterior motion of the mitral valve in the absence of asymmetric septal hypertrophy. ( 568385 )	Crawford M.H....Horwitz L.D.	1978
14	Familial prevalence of asymmetric septal hypertrophy. ( 964283 )	van Dorp W.G....Roelandt J.	1976

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Genes for Cardiomyopathy, Familial Hypertrophic, 1

Genes related to Cardiomyopathy, Familial Hypertrophic, 1 (5 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MYH7	Myosin Heavy Chain 7	Protein Coding	1355.63	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	8343162 20301559 20301725 (more) 21267010 23788249 25173338 25356965 27854360 8282798 17476457 7909436 1361491 16684601 4104682 19336582 19138847 10424815 7786104 8254035 15483641 1552912 8483915 18175163 9544842 20301606 20301436 13732753 1634614 1975517 2249844 21239280 9541509 12601548 7994801 9140839 8655135 10521296 11424919 16650083 16267253 12081993 1430197 12749056 18506004
2	MYLK2	Myosin Light Chain Kinase 2	Protein Coding	900	Molecular basis known ⁵⁷ Causative variation ⁷⁵ Genetic Tests ²⁹
3	CAV3	Caveolin 3	Protein Coding	900	Molecular basis known ⁵⁷ Causative variation ⁷⁵ Genetic Tests ²⁹
4	MYH6	Myosin Heavy Chain 6	Protein Coding	500	Pathogenic ⁶ Genetic Tests ²⁹	20301559 20301725 21267010 (more) 23788249 25173338 25356965 27854360 20301486
5	MYBPC3	Myosin Binding Protein C, Cardiac	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	20301559 20301725 21267010 (more) 23788249 25173338 25356965 27854360
6	IFT43	Intraflagellar Transport 43	Protein Coding	17.46	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	CASP7	Caspase 7	Protein Coding	16.13	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	GZMB	Granzyme B	Protein Coding	15.43	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	CASP1	Caspase 1	Protein Coding	15.33	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	CASP10	Caspase 10	Protein Coding	15.05	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	CASP3	Caspase 3	Protein Coding	14.87	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
12	BTC	Betacellulin	Protein Coding	14.68	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Cardiomyopathy, Familial Hypertrophic, 1

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 1:

⁷⁵ (show top 50) (show all 174)

#	Symbol	AA change	Variation ID	SNP ID
1	CAV3	p.Thr64Ser	VAR_029543	rs121909280
2	MYH7	p.Ala26Val	VAR_004566	rs186964570
3	MYH7	p.Val59Ile	VAR_004567	rs771132107
4	MYH7	p.Arg143Gln	VAR_004568	rs397516209
5	MYH7	p.Arg249Gln	VAR_004569	rs3218713
6	MYH7	p.Gly256Glu	VAR_004570	rs121913633
7	MYH7	p.Ile263Thr	VAR_004571	rs397516269
8	MYH7	p.Met349Thr	VAR_004572	rs121913640
9	MYH7	p.Arg403Leu	VAR_004573	rs121913624
10	MYH7	p.Arg403Gln	VAR_004574	rs121913624
11	MYH7	p.Arg403Trp	VAR_004575	rs3218714
12	MYH7	p.Arg453Cys	VAR_004576	rs121913625
13	MYH7	p.Phe513Cys	VAR_004577	rs121913636
14	MYH7	p.Gly584Arg	VAR_004578	rs121913626
15	MYH7	p.Asp587Val	VAR_004579
16	MYH7	p.Asn602Ser	VAR_004580	rs730880880
17	MYH7	p.Val606Met	VAR_004581	rs121913627
18	MYH7	p.Lys615Asn	VAR_004582
19	MYH7	p.Gly716Arg	VAR_004583	rs121913638
20	MYH7	p.Arg719Trp	VAR_004584	rs121913637
21	MYH7	p.Arg723Cys	VAR_004585	rs121913630
22	MYH7	p.Pro731Leu	VAR_004586
23	MYH7	p.Ile736Met	VAR_004587
24	MYH7	p.Gly741Arg	VAR_004588	rs121913632
25	MYH7	p.Gly741Trp	VAR_004589	rs121913632
26	MYH7	p.Asp778Gly	VAR_004590	rs121913634
27	MYH7	p.Ala797Thr	VAR_004591	rs3218716
28	MYH7	p.Arg870His	VAR_004592	rs36211715
29	MYH7	p.Leu908Val	VAR_004593	rs121913631
30	MYH7	p.Glu924Lys	VAR_004594	rs121913628
31	MYH7	p.Glu930Lys	VAR_004595	rs397516171
32	MYH7	p.Glu935Lys	VAR_004597	rs121913639
33	MYH7	p.Glu949Lys	VAR_004598	rs121913629
34	MYH7	p.Glu743Asp	VAR_014199	rs397516139
35	MYH7	p.Arg719Gln	VAR_017749	rs121913641
36	MYH7	p.Ala728Val	VAR_017750	rs121913644
37	MYH7	p.Val39Met	VAR_019845	rs376160714
38	MYH7	p.Thr188Asn	VAR_019846	rs730880844
39	MYH7	p.Arg204His	VAR_019847	rs397516260
40	MYH7	p.Asn232Ser	VAR_019848
41	MYH7	p.Ala355Thr	VAR_019849	rs397516088
42	MYH7	p.Ala428Val	VAR_019850	rs727503266
43	MYH7	p.Ile443Thr	VAR_019851
44	MYH7	p.Asn479Ser	VAR_019852	rs727504236
45	MYH7	p.Glu483Lys	VAR_019853	rs121913651
46	MYH7	p.Met659Ile	VAR_019854
47	MYH7	p.Arg663His	VAR_019855	rs371898076
48	MYH7	p.Arg663Ser	VAR_019856
49	MYH7	p.Arg671Cys	VAR_019857	rs727503263
50	MYH7	p.Gly733Glu	VAR_019858	rs727504241

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 1:

⁶

(show top 50) (show all 309)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MYBPC3	NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121909374	GRCh37	Chromosome 11, 47364129: 47364129
2	MYBPC3	NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121909374	GRCh38	Chromosome 11, 47342578: 47342578
3	MYH7	NM_000257.3(MYH7): c.1208G> A (p.Arg403Gln)	single nucleotide variant	Pathogenic	rs121913624	GRCh37	Chromosome 14, 23898487: 23898487
4	MYH7	NM_000257.3(MYH7): c.1208G> A (p.Arg403Gln)	single nucleotide variant	Pathogenic	rs121913624	GRCh38	Chromosome 14, 23429278: 23429278
5	MYH7	NM_000257.3(MYH7): c.746G> A (p.Arg249Gln)	single nucleotide variant	Pathogenic/Likely pathogenic	rs3218713	GRCh37	Chromosome 14, 23900677: 23900677
6	MYH7	NM_000257.3(MYH7): c.746G> A (p.Arg249Gln)	single nucleotide variant	Pathogenic/Likely pathogenic	rs3218713	GRCh38	Chromosome 14, 23431468: 23431468
7	MYH7	NM_000257.3(MYH7): c.1357C> T (p.Arg453Cys)	single nucleotide variant	Pathogenic	rs121913625	GRCh37	Chromosome 14, 23898214: 23898214
8	MYH7	NM_000257.3(MYH7): c.1357C> T (p.Arg453Cys)	single nucleotide variant	Pathogenic	rs121913625	GRCh38	Chromosome 14, 23429005: 23429005
9	MYH7	NM_000257.3(MYH7): c.1750G> C (p.Gly584Arg)	single nucleotide variant	Pathogenic	rs121913626	GRCh37	Chromosome 14, 23896932: 23896932
10	MYH7	NM_000257.3(MYH7): c.1750G> C (p.Gly584Arg)	single nucleotide variant	Pathogenic	rs121913626	GRCh38	Chromosome 14, 23427723: 23427723
11	MYH7	NM_000257.3(MYH7): c.1816G> A (p.Val606Met)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913627	GRCh37	Chromosome 14, 23896866: 23896866
12	MYH7	NM_000257.3(MYH7): c.1816G> A (p.Val606Met)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913627	GRCh38	Chromosome 14, 23427657: 23427657
13	MYH7	NM_000257.3(MYH7): c.2770G> A (p.Glu924Lys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913628	GRCh37	Chromosome 14, 23893268: 23893268
14	MYH7	NM_000257.3(MYH7): c.2770G> A (p.Glu924Lys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913628	GRCh38	Chromosome 14, 23424059: 23424059
15	MYH7	NM_000257.3(MYH7): c.2167C> T (p.Arg723Cys)	single nucleotide variant	Pathogenic	rs121913630	GRCh37	Chromosome 14, 23895023: 23895023
16	MYH7	NM_000257.3(MYH7): c.2167C> T (p.Arg723Cys)	single nucleotide variant	Pathogenic	rs121913630	GRCh38	Chromosome 14, 23425814: 23425814
17	MYH7	nsv513807	deletion	Pathogenic
18	MYH7	NM_000257.3(MYH7): c.2722C> G (p.Leu908Val)	single nucleotide variant	Pathogenic	rs121913631	GRCh37	Chromosome 14, 23893316: 23893316
19	MYH7	NM_000257.3(MYH7): c.2722C> G (p.Leu908Val)	single nucleotide variant	Pathogenic	rs121913631	GRCh38	Chromosome 14, 23424107: 23424107
20	MYH7	NM_000257.3(MYH7): c.2221G> C (p.Gly741Arg)	single nucleotide variant	Pathogenic	rs121913632	GRCh37	Chromosome 14, 23894969: 23894969
21	MYH7	NM_000257.3(MYH7): c.2221G> C (p.Gly741Arg)	single nucleotide variant	Pathogenic	rs121913632	GRCh38	Chromosome 14, 23425760: 23425760
22	MYH7	NM_000257.3(MYH7): c.767G> A (p.Gly256Glu)	single nucleotide variant	Pathogenic	rs121913633	GRCh37	Chromosome 14, 23900656: 23900656
23	MYH7	NM_000257.3(MYH7): c.767G> A (p.Gly256Glu)	single nucleotide variant	Pathogenic	rs121913633	GRCh38	Chromosome 14, 23431447: 23431447
24	MYH7	NM_000257.3(MYH7): c.1208G> T (p.Arg403Leu)	single nucleotide variant	Pathogenic	rs121913624	GRCh37	Chromosome 14, 23898487: 23898487
25	MYH7	NM_000257.3(MYH7): c.1208G> T (p.Arg403Leu)	single nucleotide variant	Pathogenic	rs121913624	GRCh38	Chromosome 14, 23429278: 23429278
26	MYH7	NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp)	single nucleotide variant	Pathogenic	rs3218714	GRCh37	Chromosome 14, 23898488: 23898488
27	MYH7	NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp)	single nucleotide variant	Pathogenic	rs3218714	GRCh38	Chromosome 14, 23429279: 23429279
28	MYH7	NM_000257.3(MYH7): c.1538T> G (p.Phe513Cys)	single nucleotide variant	Pathogenic	rs121913636	GRCh37	Chromosome 14, 23897749: 23897749
29	MYH7	NM_000257.3(MYH7): c.1538T> G (p.Phe513Cys)	single nucleotide variant	Pathogenic	rs121913636	GRCh38	Chromosome 14, 23428540: 23428540
30	MYH7	NM_000257.3(MYH7): c.2155C> T (p.Arg719Trp)	single nucleotide variant	Pathogenic	rs121913637	GRCh37	Chromosome 14, 23895180: 23895180
31	MYH7	NM_000257.3(MYH7): c.2155C> T (p.Arg719Trp)	single nucleotide variant	Pathogenic	rs121913637	GRCh38	Chromosome 14, 23425971: 23425971
32	MYH7	NM_000257.3(MYH7): c.2146G> A (p.Gly716Arg)	single nucleotide variant	Pathogenic	rs121913638	GRCh37	Chromosome 14, 23895189: 23895189
33	MYH7	NM_000257.3(MYH7): c.2146G> A (p.Gly716Arg)	single nucleotide variant	Pathogenic	rs121913638	GRCh38	Chromosome 14, 23425980: 23425980
34	MYH7	NM_000257.3(MYH7): c.2803G> A (p.Glu935Lys)	single nucleotide variant	Pathogenic	rs121913639	GRCh37	Chromosome 14, 23893235: 23893235
35	MYH7	NM_000257.3(MYH7): c.2803G> A (p.Glu935Lys)	single nucleotide variant	Pathogenic	rs121913639	GRCh38	Chromosome 14, 23424026: 23424026
36	MYH7	NM_000257.3(MYH7): c.2156G> A (p.Arg719Gln)	single nucleotide variant	Pathogenic	rs121913641	GRCh37	Chromosome 14, 23895179: 23895179
37	MYH7	NM_000257.3(MYH7): c.2156G> A (p.Arg719Gln)	single nucleotide variant	Pathogenic	rs121913641	GRCh38	Chromosome 14, 23425970: 23425970
38	MYH7	NM_000257.3(MYH7): c.1447G> A (p.Glu483Lys)	single nucleotide variant	Pathogenic	rs121913651	GRCh37	Chromosome 14, 23897840: 23897840
39	MYH7	NM_000257.3(MYH7): c.1447G> A (p.Glu483Lys)	single nucleotide variant	Pathogenic	rs121913651	GRCh38	Chromosome 14, 23428631: 23428631
40	MYH7	NM_000257.3(MYH7): c.2609G> A (p.Arg870His)	single nucleotide variant	Pathogenic	rs36211715	GRCh37	Chromosome 14, 23894048: 23894048
41	MYH7	NM_000257.3(MYH7): c.2609G> A (p.Arg870His)	single nucleotide variant	Pathogenic	rs36211715	GRCh38	Chromosome 14, 23424839: 23424839
42	MYH7	NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro)	single nucleotide variant	Pathogenic	rs121913654	GRCh37	Chromosome 14, 23884385: 23884385
43	MYH7	NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro)	single nucleotide variant	Pathogenic	rs121913654	GRCh38	Chromosome 14, 23415176: 23415176
44	MYH7	NM_000257.3(MYH7): c.1491G> T (p.Glu497Asp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs267606911	GRCh37	Chromosome 14, 23897796: 23897796
45	MYH7	NM_000257.3(MYH7): c.1491G> T (p.Glu497Asp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs267606911	GRCh38	Chromosome 14, 23428587: 23428587
46	MYH7	NM_000257.3(MYH7): c.2717A> G (p.Asp906Gly)	single nucleotide variant	Pathogenic	rs267606908	GRCh37	Chromosome 14, 23893321: 23893321
47	MYH7	NM_000257.3(MYH7): c.2717A> G (p.Asp906Gly)	single nucleotide variant	Pathogenic	rs267606908	GRCh38	Chromosome 14, 23424112: 23424112
48	MYBPC3	NM_000256.3(MYBPC3): c.1483C> G (p.Arg495Gly)	single nucleotide variant	Pathogenic/Likely pathogenic	rs397515905	GRCh37	Chromosome 11, 47364270: 47364270
49	MYBPC3	NM_000256.3(MYBPC3): c.1483C> G (p.Arg495Gly)	single nucleotide variant	Pathogenic/Likely pathogenic	rs397515905	GRCh38	Chromosome 11, 47342719: 47342719
50	MYBPC3	NM_000256.3(MYBPC3): c.2373dupG (p.Trp792Valfs)	duplication	Pathogenic	rs397515963	GRCh37	Chromosome 11, 47359281: 47359281

Sources

Expression for Cardiomyopathy, Familial Hypertrophic, 1

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 1.

Sources

Pathways for Cardiomyopathy, Familial Hypertrophic, 1

Pathways related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards Suite gene sharing:

(show all 28)

#	Super pathways	Score	Top Affiliating Genes
1	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	12.98	BTC CASP1 CASP10 CASP3 CASP7 MYH6
2	Allograft rejection ¹ ³⁷ Show member pathways Antigen processing and presentation ³⁷ Asthma ³⁷ Autoimmune thyroid disease ³⁷ CTL Mediated Apoptosis ⁶⁴ Graft-versus-host disease ³⁷ Intestinal immune network for IgA production ³⁷ THC Differentiation Pathway ⁶⁴ Type I diabetes mellitus ³⁷ Viral myocarditis ³⁷	12.71	CASP3 CASP7 GZMB MYH6 MYH7
3	TNFR1 Pathway ⁶⁴ Show member pathways Apoptosis and survival TNFR1 signaling pathway ²² Apoptosis through Death Receptors ⁶⁴ Apoptotic Pathways Triggered By HIV1 ⁶⁴ DR3 Signaling ⁶⁴ Fas Signaling ⁶⁴ GITR Pathway ⁶⁴ HIV-1 Nef- Negative effector of Fas and TNF-alpha ¹ Stimulation of the cell death response by PAK-2p34 ⁶⁶ TNF alpha Signaling Pathway ¹ TNF related weak inducer of apoptosis (TWEAK) Signaling Pathway ¹ TNF Signaling ⁶⁴ TRAIL Pathway ⁶⁴ TWEAK Pathway ⁶⁴	12.69	CASP1 CASP10 CASP3 CASP7
4	Apoptosis Modulation and Signaling ¹ Show member pathways Apoptosis ³⁷ Apoptosis ¹ Apoptosis and survival Apoptotic TNF-family pathways ²² Apoptosis Signaling Pathways ⁶⁵ Death Receptor Signaling ⁶⁷	12.64	CASP1 CASP10 CASP3 CASP7 GZMB
5	Chks in Checkpoint Regulation ⁶⁴ Show member pathways DNA Repair Mechanisms ⁶⁴ Estrogen-mediated S-Phase Entry ⁶⁴ G2-M Phase Transition ⁶⁴ Parkinson's Disease Pathway ⁶⁴ SREBP Proteolysis ⁶⁴	12.51	CASP1 CASP10 CASP3 CASP7
6	TRAF Pathway ⁶⁴ Show member pathways 14-3-3 Induced Apoptosis ⁶⁴ TNF Superfamily Pathway ⁶⁴ Toll-Like Receptors Pathway ⁶⁴	12.31	CASP1 CASP10 CASP3 CASP7
7	Development EGFR signaling pathway ²² Show member pathways Development ERBB-family signaling ²² EGF Pathway ⁶⁴ EGFR Signaling Pathway ⁶⁷ ErbB receptor signaling network ¹	12.21	BTC CASP1 CASP10 CASP3 CASP7
8	Immune response CCR3 signaling in eosinophils ²² Show member pathways Inhibitory action of Lipoxins on neutrophil migration ²²	12.15	MYH6 MYH7 MYLK2
9	p53 Signaling ⁶⁴ Show member pathways p53 Pathway ⁶⁷	12.09	CASP1 CASP10 CASP3 CASP7
10	Apoptosis and Autophagy ⁴	12.06	CASP1 CASP3 CASP7 GZMB
11	Dilated cardiomyopathy (DCM) ³⁷ Show member pathways Hypertrophic cardiomyopathy (HCM) ³⁷	12.03	MYBPC3 MYH6 MYH7
12	BMP Pathway ⁶⁴ Show member pathways Caspase Cascade ⁶⁴ Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels ⁶⁶ DREAM Repression and Dynorphin Expression ⁶⁴ nNOS Signaling in Skeletal Muscle ⁶⁴ TOB in Osteoblast Signaling ⁶⁴	12.01	CASP1 CASP10 CASP3 CASP7 GZMB
13	Activation of BH3-only proteins ⁶⁶ Show member pathways Activation of BAD and translocation to mitochondria ⁶⁶ Activation of BIM and translocation to mitochondria ⁶⁶ Activation of BMF and translocation to mitochondria ⁶⁶ Activation of NOXA and translocation to mitochondria ⁶⁶ Activation of PUMA and translocation to mitochondria ⁶⁶ Activation, myristolyation of BID and translocation to mitochondria ⁶⁶ BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members ⁶⁶ Intrinsic Pathway for Apoptosis ⁶⁶	11.87	CASP3 CASP7 GZMB
14	Presenilin-Mediated Signaling ⁶⁴	11.86	CASP1 CASP10 CASP3 CASP7
15	TNF signaling pathway ³⁷	11.79	CASP10 CASP3 CASP7
16	RhoGDI Pathway ⁶⁴ Show member pathways Fc-GammaR-Mediated Phagocytosis in Macrophages ⁶⁴	11.73	CASP10 CASP3 GZMB MYH6 MYH7
17	S-1P Stimulated Signaling ⁶⁴	11.71	CASP1 CASP10 CASP3 CASP7
18	VEGF Pathway (Tocris) ⁷² Show member pathways Sorafenib Pharmacodynamics ⁶¹	11.67	CASP10 CASP3 CASP7
19	Ceramide Pathway ⁶⁴ Show member pathways TNF-Induced Apoptosis Implicating Sphingolipids ⁶⁴	11.65	CASP1 CASP10 CASP3 CASP7
20	Pertussis ³⁷	11.61	CASP1 CASP3 CASP7
21	Legionellosis ³⁷	11.46	CASP1 CASP3 CASP7
22	Granzyme Pathway ⁶⁴ Show member pathways Granzyme-B Pathway ⁶⁴	11.38	CASP3 CASP7 GZMB
23	Apoptosis and survival Caspase cascade ²² Show member pathways Apoptosis and survival FAS signaling cascades ²² Breakdown of the nuclear lamina ⁶⁶ Caspase cascade in apoptosis ¹ Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation ¹ FasL/ CD95L signaling ⁶⁶ Influenza A virus infection ¹	11.28	CASP1 CASP10 CASP3 CASP7 GZMB
24	Nucleotide-binding Oligomerization Domain (NOD) pathway ¹	11.25	CASP1 CASP7
25	TNF Signaling (sino) ⁶⁷	11.23	CASP10 CASP3 CASP7
26	G-protein signaling_Regulation of CDC42 activity ²²	11.13	CASP1 CASP3
27	SMAC binds to IAPs ⁶⁶ Show member pathways Activation of caspases through apoptosome-mediated cleavage ⁶⁶ Cytochrome c-mediated apoptotic response ⁶⁶ Formation of apoptosome ⁶⁶ SMAC-mediated apoptotic response ⁶⁶ SMAC-mediated dissociation of IAP-caspase complexes ⁶⁶	11.07	CASP3 CASP7
28	ERK Pathway in Huntingtons Disease ¹	10.74	CASP3 CASP7

Sources

GO Terms for Cardiomyopathy, Familial Hypertrophic, 1

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	Z disc	GO:0030018	9.56	CAV3 MYBPC3 MYH6 MYH7
2	muscle myosin complex	GO:0005859	9.33	MYBPC3 MYH6 MYH7
3	myosin filament	GO:0032982	9.13	MYBPC3 MYH6 MYH7
4	sarcomere	GO:0030017	8.92	MYBPC3 MYH6 MYH7 MYLK2

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards Suite gene sharing:

(show all 22)

#	Name	GO ID	Score	Top Affiliating Genes
1	proteolysis	GO:0006508	9.92	CASP1 CASP10 CASP3 CASP7 GZMB
2	apoptotic process	GO:0006915	9.91	CASP1 CASP10 CASP3 CASP7 GZMB
3	muscle contraction	GO:0006936	9.71	CAV3 MYH6 MYH7
4	activation of cysteine-type endopeptidase activity involved in apoptotic process	GO:0006919	9.67	CASP1 CASP10 CASP3
5	sarcomere organization	GO:0045214	9.61	MYBPC3 MYH6
6	muscle filament sliding	GO:0030049	9.61	MYBPC3 MYH6 MYH7
7	cellular response to organic substance	GO:0071310	9.6	CASP1 CASP3
8	ATP metabolic process	GO:0046034	9.59	MYH6 MYH7
9	neuron apoptotic process	GO:0051402	9.58	CASP3 CASP7
10	regulation of heart contraction	GO:0008016	9.58	CAV3 MYH6
11	regulation of heart rate	GO:0002027	9.58	CAV3 MYH6 MYH7
12	regulation of the force of heart contraction	GO:0002026	9.57	MYH6 MYH7
13	adult heart development	GO:0007512	9.56	MYH6 MYH7
14	protein processing	GO:0016485	9.56	CASP1 CASP3 CASP7 GZMB
15	cardiac muscle hypertrophy in response to stress	GO:0014898	9.55	MYH6 MYH7
16	ventricular cardiac muscle tissue morphogenesis	GO:0055010	9.5	MYBPC3 MYH6 MYH7
17	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	GO:0008635	9.48	CASP3 CASP7
18	cellular response to staurosporine	GO:0072734	9.46	CASP3 CASP7
19	cardiac muscle contraction	GO:0060048	9.46	MYBPC3 MYH6 MYH7 MYLK2
20	regulation of muscle filament sliding	GO:0032971	9.37	MYBPC3 MYLK2
21	execution phase of apoptosis	GO:0097194	9.26	CASP1 CASP10 CASP3 CASP7
22	striated muscle contraction	GO:0006941	8.92	MYBPC3 MYH6 MYH7 MYLK2

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	peptidase activity	GO:0008233	9.72	CASP1 CASP10 CASP3 CASP7 GZMB
2	calmodulin binding	GO:0005516	9.69	MYH6 MYH7 MYLK2
3	actin filament binding	GO:0051015	9.67	MYBPC3 MYH6 MYH7
4	cysteine-type peptidase activity	GO:0008234	9.56	CASP1 CASP10 CASP3 CASP7
5	microfilament motor activity	GO:0000146	9.48	MYH6 MYH7
6	cysteine-type endopeptidase activator activity involved in apoptotic process	GO:0008656	9.46	CASP1 CASP3
7	cysteine-type endopeptidase activity	GO:0004197	9.46	CASP1 CASP10 CASP3 CASP7
8	actin-dependent ATPase activity	GO:0030898	9.4	MYH6 MYH7
9	cysteine-type endopeptidase activity involved in apoptotic signaling pathway	GO:0097199	9.37	CASP1 CASP10
10	cysteine-type endopeptidase activity involved in apoptotic process	GO:0097153	9.26	CASP1 CASP10 CASP3 CASP7
11	cysteine-type endopeptidase activity involved in execution phase of apoptosis	GO:0097200	8.92	CASP1 CASP10 CASP3 CASP7
12	protein binding	GO:0005515	10.21	BTC CASP1 CASP10 CASP3 CASP7 CAV3

Sources

Sources for Cardiomyopathy, Familial Hypertrophic, 1

¹ BioSystems

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⁷¹ TGDB

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia