CMH1
MCID: CRD086
MIFTS: 59

Cardiomyopathy, Familial Hypertrophic, 1 (CMH1)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 1

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 1:

Name: Cardiomyopathy, Familial Hypertrophic, 1 58 13 74
Asymmetric Septal Hypertrophy 58 77 76 30 6 74
Familial Hypertrophic Cardiomyopathy 12 54 26 76 15
Cmh1 58 12 76
Hypertrophic Subaortic Stenosis, Idiopathic 58 76
Cardiomyopathy, Familial Hypertrophic 1 12 76
Familial Hypertrophic Cardiomyopathy 1 30 6
Cardiomyopathy, Hypertrophic, Familial 45 74
Cardiomyopathy, Familial Hypertrophic 58 76
Heritable Hypertrophic Cardiomyopathy 54 26
Ventricular Hypertrophy, Hereditary 58 76
Hypertrophic Cardiomyopathy 1 12 15
Hypertrophic Cardiomyopathy 76 74
Cmh 58 76
Ash 58 76
Hcm 26 76
Cardiomyopathy, Hypertrophic, Familial, Type 1 41
Idiopathic Hypertrophic Subaortic Stenosis 26
Cardiomyopathy, Hypertrophic, 1, Digenic 58
Familial Asymmetric Septal Hypertrophy 26
Cardiomyopathy Familial Hypertrophic 54
Asymmetric Septal Hypertrophy; Ash 58
Hereditary Ventricular Hypertrophy 26
Cardiomyopathy, Hypertrophic, 1 58
Hypertrophic Cardiomyopathy 19 12
Familial Hcm 54
Fhc 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
digenic (see miscellaneous)

Miscellaneous:
digenic form caused by heterozygous mutations in the mylk2 and myh7 genes


HPO:

33
cardiomyopathy, familial hypertrophic, 1:
Mortality/Aging sudden death
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiomyopathy, Familial Hypertrophic, 1

NIH Rare Diseases : 54 Familial hypertrophic cardiomyopathy (HCM) is an inherited heart condition characterized by thickening of the heart muscle. The thickening most often occurs in the muscle wall that separates the left and right ventricles from each other (interventricular septum). This may restrict the flow of oxygen-rich blood from the heart, or it may lead to less efficient pumping of blood. Signs and symptoms can vary. While some people have no symptoms, others may have chest pain, shortness of breath, palpitations, lightheadedness, dizziness, and/or fainting. Even in the absence of symptoms, familial HCM can have serious consequences such as life-threatening arrhythmias, heart failure, and an increased risk of sudden death. Familial HCM may be caused by mutations in any of several genes and is typically inherited in an autosomal dominant manner. Treatment may depend on severity of symptoms and may include medications, surgical procedures, and/or an implantable cardioverter-defibrillator (ICD).

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 1, also known as asymmetric septal hypertrophy, is related to cardiac arrest and left ventricular noncompaction. 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 Aldosterone synthesis and secretion. Affiliated tissues include heart, and related phenotypes are abnormality of metabolism/homeostasis and arrhythmia

Disease Ontology : 12 A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has material basis in autosomal dominant inheritance of one or more gene mutations.

Genetics Home Reference : 26 Familial hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. Thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). In some people, thickening of the interventricular septum impedes the flow of oxygen-rich blood from the heart, which may lead to an abnormal heart sound during a heartbeat (heart murmur) and other signs and symptoms of the condition. Other affected individuals do not have physical obstruction of blood flow, but the pumping of blood is less efficient, which can also lead to symptoms of the condition. Cardiac hypertrophy often begins in adolescence or young adulthood, although it can develop at any time throughout life.

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Hypertrophic cardiomyopathy (HCM) is a condition in which a portion of the heart becomes thickened... more...

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, 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, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 472)
# Related Disease Score Top Affiliating Genes
1 cardiac arrest 30.8 MYBPC3 MYH7 TNNT2
2 left ventricular noncompaction 30.6 MYBPC3 MYH6 MYH7 TNNT2 TPM1
3 atrial standstill 1 30.3 MYBPC3 MYH6 MYH7 TNNI3 TNNT2
4 wolff-parkinson-white syndrome 30.3 MYH7 TNNI3 TNNT1
5 myocardial infarction 30.2 CASP1 CASP3 TNNI3 TNNT1 TNNT2
6 heart disease 30.0 MYBPC3 MYH6 MYH7 TNNI3 TNNT2
7 hypertrophic cardiomyopathy 30.0 CAV3 MYBPC3 MYH6 MYH7 TNNI3 TNNT1
8 restrictive cardiomyopathy 29.8 MYBPC3 MYH7 TNNI3 TNNT1 TNNT2 TPM1
9 dilated cardiomyopathy 29.5 MYBPC3 MYH6 MYH7 TNNI3 TNNT1 TNNT2
10 cardiomyopathy, familial hypertrophic, 4 12.6
11 cardiomyopathy, familial hypertrophic, 2 12.6
12 cardiomyopathy, familial hypertrophic, 3 12.6
13 cardiomyopathy, familial hypertrophic, 6 12.6
14 cardiomyopathy, familial hypertrophic, 8 12.6
15 cardiomyopathy, familial hypertrophic, 10 12.6
16 cardiomyopathy, familial hypertrophic, 11 12.6
17 cardiomyopathy, familial hypertrophic, 12 12.6
18 cardiomyopathy, familial hypertrophic, 13 12.6
19 cardiomyopathy, familial hypertrophic, 14 12.6
20 cardiomyopathy, familial hypertrophic, 15 12.6
21 cardiomyopathy, familial hypertrophic, 7 12.6
22 cardiomyopathy, familial hypertrophic, 9 12.6
23 cardiomyopathy, familial hypertrophic, 16 12.6
24 cardiomyopathy, familial hypertrophic, 17 12.6
25 cardiomyopathy, familial hypertrophic, 18 12.6
26 cardiomyopathy, familial hypertrophic, 20 12.6
27 cardiomyopathy, familial hypertrophic, 26 12.6
28 cardiomyopathy, familial hypertrophic, 25 12.5
29 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial dna mutation 12.3
30 hypertrophic cardiomyopathy due to intensive athletic training 12.3
31 congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome 12.3
32 lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy 12.2
33 combined oxidative phosphorylation deficiency 16 12.1
34 deafness, autosomal dominant 22 12.0
35 combined oxidative phosphorylation deficiency 10 12.0
36 mitochondrial complex v deficiency, mitochondrial type 1 12.0
37 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 11.9
38 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction 11.9
39 cardiomyopathy, dilated, 1kk 11.9
40 cardiomyopathy, infantile hypertrophic 11.9
41 sengers syndrome 11.8
42 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 11.8
43 costello syndrome 11.7
44 hypercholesterolemia, familial 11.7
45 combined oxidative phosphorylation deficiency 8 11.6
46 combined oxidative phosphorylation deficiency 17 11.6
47 mitochondrial complex iv deficiency 11.6
48 cardiofaciocutaneous syndrome 1 11.5
49 glycogen storage disease of heart, lethal congenital 11.5
50 histiocytosis-lymphadenopathy plus syndrome 11.5

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



Diseases related to Cardiomyopathy, Familial Hypertrophic, 1

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 1

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 1:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 33 HP:0001939
2 arrhythmia 33 HP:0011675
3 congestive heart failure 33 HP:0001635
4 asymmetric septal hypertrophy 33 HP:0001670
5 subvalvular aortic stenosis 33 HP:0001682

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
hypertrophic cardiomyopathy
arrhythmia
congestive heart failure
sudden death
subaortic stenosis
more

Clinical features from OMIM:

192600

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.4 CASP1 CASP3 CASP7 ERCC6 FKBP5 GZMB
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.4 CASP1 CASP3 CASP7 ERCC6 FKBP5 GZMB

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 BTC CASP1 CASP3 CASP7 CAV3 MYBPC3
2 muscle MP:0005369 9.36 BTC CASP3 CAV3 ERCC6 MYBPC3 MYH6

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 1

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

Cochrane evidence based reviews: cardiomyopathy, hypertrophic, familial

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 1

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 1:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 1 30 CAV3 MYH6 MYH7 MYLK2
2 Asymmetric Septal Hypertrophy 30

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 1

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

42
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 1

Articles related to Cardiomyopathy, Familial Hypertrophic, 1:

(show top 50) (show all 103)
# Title Authors Year
1
Residual left ventricular hypertrophy with adverse clinical outcomes in patients with severe aortic stenosis and asymmetric septal hypertrophy after aortic valve replacement. ( 30698739 )
2019
2
Comparison of Frequency of Ischemic Cardiovascular Events in Patients With Aortic Stenosis With Versus Without Asymmetric Septal Hypertrophy (from the SEAS Trial). ( 28132685 )
2017
3
Asymmetric septal hypertrophy in patients with severe aortic stenosis: the usefulness of associated septal myectomy. ( 22341422 )
2013
4
Effect of concomitant asymmetric septal hypertrophy when assessing the severity of aortic valve stenosis: an in-vitro study. ( 23167227 )
2012
5
Vanishing asymmetric septal hypertrophy in a patient with hypertrophic obstructive cardiomyopathy. ( 21545939 )
2011
6
Asymmetric septal hypertrophy in patients with coronary artery disease. ( 20382976 )
2010
7
Asymmetric septal hypertrophy - a marker of hypertension in aortic stenosis (a SEAS substudy). ( 20429691 )
2010
8
Resolution of left ventricular and asymmetric septal hypertrophy after resection of left ventricular outflow obstruction in a patient with troponin-positive hypertrophic obstructive cardiomyopathy: a case report. ( 20663266 )
2010
9
Valsalva maneuver, uncontrolled hypertension, asymmetric septal hypertrophy and dynamic outflow obstruction: a case report. ( 19152678 )
2009
10
Left ventricular outflow tract obstruction in the presence of asymmetric septal hypertrophy and accessory mitral valve tissue treated with alcohol septal ablation. ( 18490281 )
2008
11
Asymmetric septal hypertrophy with perimembranous septal defect and obstructive right ventricular outflow tract in a patient with hypertrophic cardiomyopathy. ( 17513218 )
2007
12
Asymmetric septal hypertrophy complicated by dynamic left ventricular obstruction after intra-aortic balloon counterpulsation placement in the setting of anterior myocardial infarction. ( 16816450 )
2006
13
Washout rates of Tc-99m tetrofosmin in asymmetric septal hypertrophy. ( 15770970 )
2005
14
Comparison of the clinical features of apical hypertrophic cardiomyopathy versus asymmetric septal hypertrophy in Korea. ( 16134764 )
2005
15
Asymmetric septal hypertrophy presenting with cardiogenic shock, complete heart block, and septal infarction despite normal coronaries. ( 15029113 )
2004
16
Asymmetric septal hypertrophy in heterozygous cMyBP-C null mice. ( 15249187 )
2004
17
Double-chambered right ventricle mimicking asymmetric septal hypertrophy. ( 12718381 )
2003
18
Asymmetric septal hypertrophy in an infant exposed to ritodrine in utero. ( 11186965 )
2000
19
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 )
1998
20
Clinicopathologic heterogeneity in hypertrophic cardiomyopathy with regard to age, asymmetric septal hypertrophy, and concentric hypertrophy beyond the pediatric age group. ( 9593345 )
1998
21
Acute myocarditis with eosinophilia presenting as asymmetric septal hypertrophy during pregnancy. ( 9158301 )
1997
22
Cardiac risk of noncardiac surgery in patients with asymmetric septal hypertrophy. ( 8712439 )
1996
23
Asymmetric septal hypertrophy in infants of diabetic mothers. ( 1514543 )
1992
24
Hemodialysis-induced subaortic obstruction in asymmetric septal hypertrophy. ( 1539540 )
1992
25
Asymmetric septal hypertrophy in infants of diabetic mothers. Fetal echocardiography and the impact of maternal diabetic control. ( 1733154 )
1992
26
A case of hypereosinophilic syndrome with asymmetric septal hypertrophy. ( 2071548 )
1991
27
Pheochromocytoma with asymmetric septal hypertrophy and Wolff-Parkinson-White syndrome. ( 1791095 )
1991
28
Asymmetric septal hypertrophy in a 41-year-old woman with Noonan's syndrome. ( 2347236 )
1990
29
Asymmetric septal hypertrophy associated with hypothyroidism. ( 2361745 )
1990
30
Acute myocarditis presenting as asymmetric septal hypertrophy. ( 2706576 )
1989
31
Residual left ventricular function and prognosis of patients with asymmetric septal hypertrophy recovering from acute myocardial infarction. ( 2525862 )
1989
32
Asymmetric septal hypertrophy and left atrial dilatation in patients with end-stage renal disease on long-term hemodialysis. ( 2532998 )
1989
33
Mechanism of development of asymmetric septal hypertrophy in patients with essential systemic hypertension. ( 2533275 )
1989
34
Valvular aortic stenosis and asymmetric septal hypertrophy: diagnostic considerations and clinical and therapeutic implications. ( 3042405 )
1988
35
Acute myocardial ischemia with prolonged left ventricular dyskinesia and mural thrombus formation in asymmetric septal hypertrophy. ( 3349853 )
1988
36
Idiopathic giant cell myocarditis accompanied by asymmetric septal hypertrophy. ( 2955139 )
1987
37
Malignant hypertension and asymmetric septal hypertrophy in a 43-year-old black man. ( 3765616 )
1986
38
Regional blood flow and metabolite levels in the left ventricular free wall and septum during aortic insufficiency: implications for the development of asymmetric septal hypertrophy. ( 2944941 )
1986
39
Asymmetric septal hypertrophy (ASH) in valvular aortic stenosis should not be resected at the time of surgery. ( 3487889 )
1986
40
Prenatal ultrasonic diagnosis of familial asymmetric septal hypertrophy. ( 3529074 )
1986
41
Asymmetric septal hypertrophy should be resected during aortic valve replacement. ( 3727687 )
1986
42
Difference in the response to isoproterenol between asymmetric septal hypertrophy and symmetric hypertrophy in patients with hypertrophic cardiomyopathy. ( 3943236 )
1986
43
Reversible asymmetric septal hypertrophy in acute myocarditis. Serial findings of two-dimensional echocardiogram and thallium-201 scintigram. ( 3162041 )
1985
44
Asymmetric septal hypertrophy and hypothyroidism in children. ( 2932134 )
1985
45
Estimation of regional stress in the left ventricular septum and free wall: an echocardiographic study suggesting a mechanism for asymmetric septal hypertrophy. ( 3160227 )
1985
46
Asymmetric septal hypertrophy of the heart. New findings concerning the possible etiology of sudden deaths in five males. ( 3161322 )
1985
47
Asymmetric septal hypertrophy in uremic-normotensive patients on regular hemodialysis. An M-mode and two-dimensional echocardiographic study. ( 3969188 )
1985
48
Asymmetric septal hypertrophy and sympathetic overactivity in normotensive hemodialyzed patients. ( 4038842 )
1985
49
Number and size of myocytes, amount of interstitial space and extent of disarray of the hearts in patients with systemic hypertension and asymmetric septal hypertrophy. ( 4040182 )
1985
50
Asymmetric septal hypertrophy in Kearns-Sayre syndrome. ( 6541986 )
1984

Variations for Cardiomyopathy, Familial Hypertrophic, 1

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

76 (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 441)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYBPC3 NM_000256.3(MYBPC3): c.818G> A (p.Arg273His) single nucleotide variant Uncertain significance rs376461745 GRCh37 Chromosome 11, 47369411: 47369411
2 MYBPC3 NM_000256.3(MYBPC3): c.818G> A (p.Arg273His) single nucleotide variant Uncertain significance rs376461745 GRCh38 Chromosome 11, 47347860: 47347860
3 MYH7 NM_000257.3(MYH7): c.958G> A (p.Val320Met) single nucleotide variant Conflicting interpretations of pathogenicity rs376897125 GRCh37 Chromosome 14, 23899810: 23899810
4 MYH7 NM_000257.3(MYH7): c.958G> A (p.Val320Met) single nucleotide variant Conflicting interpretations of pathogenicity rs376897125 GRCh38 Chromosome 14, 23430601: 23430601
5 TNNT2 NM_001001430.2(TNNT2): c.833G> C (p.Arg278Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs397516484 GRCh37 Chromosome 1, 201328372: 201328372
6 TNNT2 NM_001001430.2(TNNT2): c.833G> C (p.Arg278Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs397516484 GRCh38 Chromosome 1, 201359244: 201359244
7 MYBPC3 NM_000256.3(MYBPC3): c.3413G> A (p.Arg1138His) single nucleotide variant Conflicting interpretations of pathogenicity rs187705120 GRCh37 Chromosome 11, 47354442: 47354442
8 MYBPC3 NM_000256.3(MYBPC3): c.3413G> A (p.Arg1138His) single nucleotide variant Conflicting interpretations of pathogenicity rs187705120 GRCh38 Chromosome 11, 47332891: 47332891
9 MYBPC3 NM_000256.3(MYBPC3): c.2003G> A (p.Arg668His) single nucleotide variant Conflicting interpretations of pathogenicity rs727503191 GRCh37 Chromosome 11, 47361266: 47361266
10 MYBPC3 NM_000256.3(MYBPC3): c.2003G> A (p.Arg668His) single nucleotide variant Conflicting interpretations of pathogenicity rs727503191 GRCh38 Chromosome 11, 47339715: 47339715
11 MYH7 NM_000257.3(MYH7): c.5279C> T (p.Thr1760Met) single nucleotide variant Uncertain significance rs727505294 GRCh37 Chromosome 14, 23884594: 23884594
12 MYH7 NM_000257.3(MYH7): c.5279C> T (p.Thr1760Met) single nucleotide variant Uncertain significance rs727505294 GRCh38 Chromosome 14, 23415385: 23415385
13 MYH7 NM_000257.3(MYH7): c.4124A> G (p.Tyr1375Cys) single nucleotide variant Uncertain significance rs727503245 GRCh37 Chromosome 14, 23887464: 23887464
14 MYH7 NM_000257.3(MYH7): c.4124A> G (p.Tyr1375Cys) single nucleotide variant Uncertain significance rs727503245 GRCh38 Chromosome 14, 23418255: 23418255
15 MYH7 NM_000257.3(MYH7): c.3236G> A (p.Arg1079Gln) single nucleotide variant Uncertain significance rs727504342 GRCh38 Chromosome 14, 23422189: 23422189
16 MYH7 NM_000257.3(MYH7): c.3236G> A (p.Arg1079Gln) single nucleotide variant Uncertain significance rs727504342 GRCh37 Chromosome 14, 23891398: 23891398
17 MYH7 NM_000257.4(MYH7): c.2221G> T (p.Gly741Trp) single nucleotide variant Pathogenic rs121913632 GRCh37 Chromosome 14, 23894969: 23894969
18 MYH7 NM_000257.4(MYH7): c.2221G> T (p.Gly741Trp) single nucleotide variant Pathogenic rs121913632 GRCh38 Chromosome 14, 23425760: 23425760
19 MYH7 NM_000257.4(MYH7): c.2207T> C (p.Ile736Thr) single nucleotide variant Pathogenic rs727503261 GRCh37 Chromosome 14, 23894983: 23894983
20 MYH7 NM_000257.4(MYH7): c.2207T> C (p.Ile736Thr) single nucleotide variant Pathogenic rs727503261 GRCh38 Chromosome 14, 23425774: 23425774
21 MYH7 NM_000257.3(MYH7): c.1727A> G (p.His576Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs727504238 GRCh38 Chromosome 14, 23427746: 23427746
22 MYH7 NM_000257.3(MYH7): c.1727A> G (p.His576Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs727504238 GRCh37 Chromosome 14, 23896955: 23896955
23 MYH7 NM_000257.3(MYH7): c.1324C> T (p.Arg442Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs148808089 GRCh37 Chromosome 14, 23898247: 23898247
24 MYH7 NM_000257.3(MYH7): c.1324C> T (p.Arg442Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs148808089 GRCh38 Chromosome 14, 23429038: 23429038
25 MYH7 NM_000257.3(MYH7): c.5287G> A (p.Ala1763Thr) single nucleotide variant Uncertain significance rs727504355 GRCh38 Chromosome 14, 23415267: 23415267
26 MYH7 NM_000257.3(MYH7): c.5287G> A (p.Ala1763Thr) single nucleotide variant Uncertain significance rs727504355 GRCh37 Chromosome 14, 23884476: 23884476
27 MYH7 NM_000257.3(MYH7): c.4075C> T (p.Arg1359Cys) single nucleotide variant Uncertain significance rs45451303 GRCh37 Chromosome 14, 23887513: 23887513
28 MYH7 NM_000257.3(MYH7): c.4075C> T (p.Arg1359Cys) single nucleotide variant Uncertain significance rs45451303 GRCh38 Chromosome 14, 23418304: 23418304
29 MYH7 NM_000257.4(MYH7): c.4066G> A (p.Glu1356Lys) single nucleotide variant Likely pathogenic rs727503246 GRCh37 Chromosome 14, 23887522: 23887522
30 MYH7 NM_000257.4(MYH7): c.4066G> A (p.Glu1356Lys) single nucleotide variant Likely pathogenic rs727503246 GRCh38 Chromosome 14, 23418313: 23418313
31 MYH7 NM_000257.3(MYH7): c.2788G> C (p.Glu930Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516171 GRCh37 Chromosome 14, 23893250: 23893250
32 MYH7 NM_000257.3(MYH7): c.2788G> C (p.Glu930Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516171 GRCh38 Chromosome 14, 23424041: 23424041
33 MYH7 NM_000257.3(MYH7): c.2606G> A (p.Arg869His) single nucleotide variant Conflicting interpretations of pathogenicity rs202141173 GRCh37 Chromosome 14, 23894051: 23894051
34 MYH7 NM_000257.3(MYH7): c.2606G> A (p.Arg869His) single nucleotide variant Conflicting interpretations of pathogenicity rs202141173 GRCh38 Chromosome 14, 23424842: 23424842
35 MYH7 NM_000257.3(MYH7): c.2572C> T (p.Arg858Cys) single nucleotide variant Likely pathogenic rs2754158 GRCh37 Chromosome 14, 23894085: 23894085
36 MYH7 NM_000257.3(MYH7): c.2572C> T (p.Arg858Cys) single nucleotide variant Likely pathogenic rs2754158 GRCh38 Chromosome 14, 23424876: 23424876
37 MYH7 NM_000257.4(MYH7): c.2539A> G (p.Lys847Glu) single nucleotide variant Likely pathogenic rs727504310 GRCh37 Chromosome 14, 23894118: 23894118
38 MYH7 NM_000257.4(MYH7): c.2539A> G (p.Lys847Glu) single nucleotide variant Likely pathogenic rs727504310 GRCh38 Chromosome 14, 23424909: 23424909
39 MYH7 NM_000257.3(MYH7): c.2302G> A (p.Gly768Arg) single nucleotide variant Pathogenic/Likely pathogenic rs727503260 GRCh37 Chromosome 14, 23894612: 23894612
40 MYH7 NM_000257.3(MYH7): c.2302G> A (p.Gly768Arg) single nucleotide variant Pathogenic/Likely pathogenic rs727503260 GRCh38 Chromosome 14, 23425403: 23425403
41 MYH7 NM_000257.3(MYH7): c.1954A> G (p.Arg652Gly) single nucleotide variant Pathogenic/Likely pathogenic rs727504239 GRCh37 Chromosome 14, 23896451: 23896451
42 MYH7 NM_000257.3(MYH7): c.1954A> G (p.Arg652Gly) single nucleotide variant Pathogenic/Likely pathogenic rs727504239 GRCh38 Chromosome 14, 23427242: 23427242
43 MYH7 NM_000257.3(MYH7): c.427C> T (p.Arg143Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs727503278 GRCh37 Chromosome 14, 23901923: 23901923
44 MYH7 NM_000257.3(MYH7): c.427C> T (p.Arg143Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs727503278 GRCh38 Chromosome 14, 23432714: 23432714
45 MYLK2 NM_033118.3(MYLK2): c.508G> A (p.Glu170Lys) single nucleotide variant Benign/Likely benign rs145656924 GRCh37 Chromosome 20, 30409276: 30409276
46 MYLK2 NM_033118.3(MYLK2): c.508G> A (p.Glu170Lys) single nucleotide variant Benign/Likely benign rs145656924 GRCh38 Chromosome 20, 31821473: 31821473
47 MYLK2 NM_033118.3(MYLK2): c.791C> T (p.Pro264Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142620954 GRCh37 Chromosome 20, 30411298: 30411298
48 MYLK2 NM_033118.3(MYLK2): c.791C> T (p.Pro264Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142620954 GRCh38 Chromosome 20, 31823495: 31823495
49 MYLK2 NM_033118.3(MYLK2): c.1458T> C (p.Asp486=) single nucleotide variant Benign rs111888319 GRCh37 Chromosome 20, 30419539: 30419539
50 MYLK2 NM_033118.3(MYLK2): c.1458T> C (p.Asp486=) single nucleotide variant Benign rs111888319 GRCh38 Chromosome 20, 31831736: 31831736

Expression for Cardiomyopathy, Familial Hypertrophic, 1

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

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
Show member pathways
13.19 BTC CASP1 CASP10 CASP3 CASP7 MYH6
2
Show member pathways
12.86 MYH6 MYH7 TNNI3 TNNT2 TPM1
3
Show member pathways
12.77 CASP3 CASP7 GZMB MYH6 MYH7
4
Show member pathways
12.72 CASP1 CASP10 CASP3 CASP7 GZMB
5
Show member pathways
12.6 CASP1 CASP10 CASP3 CASP7 ERCC6
6
Show member pathways
12.53 CAV3 MYBPC3 MYH6 TNNI3 TNNT1 TNNT2
7
Show member pathways
12.32 CASP1 CASP10 CASP3 CASP7 GZMB
8
Show member pathways
12.18 CASP10 CASP3 GZMB MYH6 MYH7
9 12.14 CASP1 CASP3 CASP7 GZMB
10
Show member pathways
12.11 CASP1 CASP10 CASP3 CASP7
11
Show member pathways
12.03 CASP1 CASP10 CASP3 CASP7 GZMB
12 11.95 CASP1 CASP10 CASP3 CASP7
13
Show member pathways
11.91 CASP3 CASP7 GZMB
14 11.85 CASP10 CASP3 CASP7
15
Show member pathways
11.84 CASP1 CASP10 CASP3 CASP7
16
Show member pathways
11.82 CASP1 CASP10 CASP3 CASP7
17 11.79 CASP1 CASP10 CASP3 CASP7
18
Show member pathways
11.71 CASP10 CASP3 CASP7
19
Show member pathways
11.68 MYBPC3 MYH6 MYH7 TNNI3 TNNT2 TPM1
20 11.66 CASP1 CASP3 CASP7
21 11.47 CASP1 CASP3 CASP7
22 11.45 MYH6 TNNI3 TNNT2
23 11.45 MYH6 MYH7 TNNI3 TNNT2 TPM1
24
Show member pathways
11.39 CASP3 CASP7 GZMB
25 11.26 CASP10 CASP3 CASP7
26 10.96 MYBPC3 MYH6 TNNI3 TNNT1 TNNT2 TPM1
27 10.87 CASP10 CASP3 GZMB MYH6 MYH7
28 10.77 CASP3 CASP7

GO Terms for Cardiomyopathy, Familial Hypertrophic, 1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.71 CAV3 MYBPC3 MYH6 MYH7
2 stress fiber GO:0001725 9.63 MYH6 MYH7 TPM1
3 striated muscle thin filament GO:0005865 9.51 MYBPC3 TNNT2
4 myosin filament GO:0032982 9.5 MYBPC3 MYH6 MYH7
5 muscle myosin complex GO:0005859 9.49 MYH6 MYH7
6 troponin complex GO:0005861 9.43 TNNI3 TNNT1 TNNT2
7 cardiac Troponin complex GO:1990584 9.37 TNNI3 TNNT2
8 myofibril GO:0030016 9.35 MYH6 MYH7 TNNI3 TNNT2 TPM1
9 cardiac myofibril GO:0097512 9.33 MYBPC3 TNNI3 TNNT2
10 sarcomere GO:0030017 9.17 MYBPC3 MYH6 MYH7 MYLK2 TNNI3 TNNT2
11 cytoplasm GO:0005737 10.32 CASP1 CASP10 CASP3 CASP7 CAV3 FKBP5
12 cytosol GO:0005829 10.25 CASP1 CASP10 CASP3 CASP7 FKBP5 GZMB

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 regulation of heart contraction GO:0008016 9.78 CAV3 MYH6 TNNT2 TPM1
2 skeletal muscle contraction GO:0003009 9.76 MYH7 TNNI3 TNNT1 TNNT2
3 muscle contraction GO:0006936 9.76 CAV3 MYBPC3 MYH6 MYH7 TNNI3 TNNT1
4 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.75 CASP1 CASP10 CASP3
5 apoptotic signaling pathway GO:0097190 9.73 CASP1 CASP10 CASP3
6 execution phase of apoptosis GO:0097194 9.73 CASP1 CASP10 CASP3 CASP7
7 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.73 MYBPC3 MYH6 MYH7 TNNI3 TNNT2 TPM1
8 response to UV GO:0009411 9.72 CASP3 CASP7 ERCC6
9 sarcomere organization GO:0045214 9.72 MYBPC3 MYH6 TNNT1 TNNT2 TPM1
10 regulation of muscle contraction GO:0006937 9.71 TNNI3 TNNT1 TNNT2 TPM1
11 positive regulation of ATPase activity GO:0032781 9.7 MYBPC3 TNNT2 TPM1
12 regulation of heart rate GO:0002027 9.69 CAV3 MYH6 MYH7
13 striated muscle contraction GO:0006941 9.67 MYH6 MYH7 MYLK2 TNNI3
14 response to X-ray GO:0010165 9.63 CASP3 ERCC6
15 cardiac muscle tissue morphogenesis GO:0055008 9.62 MYBPC3 MYLK2
16 regulation of the force of heart contraction GO:0002026 9.62 MYH6 MYH7
17 cardiac muscle fiber development GO:0048739 9.61 MYBPC3 MYH6
18 adult heart development GO:0007512 9.61 MYH6 MYH7
19 cardiac muscle hypertrophy in response to stress GO:0014898 9.6 MYH6 MYH7
20 striated muscle cell differentiation GO:0051146 9.59 CASP3 SPAG9
21 negative regulation of ATPase activity GO:0032780 9.58 TNNI3 TNNT2
22 transition between fast and slow fiber GO:0014883 9.57 MYH7 TNNT1
23 cellular response to staurosporine GO:0072734 9.54 CASP3 CASP7
24 muscle filament sliding GO:0030049 9.5 MYBPC3 MYH6 MYH7 TNNI3 TNNT1 TNNT2
25 regulation of muscle filament sliding GO:0032971 9.49 MYBPC3 MYLK2
26 cardiac muscle contraction GO:0060048 9.23 MYBPC3 MYH6 MYH7 MYLK2 TNNI3 TNNT1
27 apoptotic process GO:0006915 10.03 CASP1 CASP10 CASP3 CASP7 GZMB

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.92 CASP1 CASP10 CASP3 CASP7 GZMB
2 cysteine-type peptidase activity GO:0008234 9.8 CASP1 CASP10 CASP3 CASP7
3 actin filament binding GO:0051015 9.65 MYBPC3 MYH6 MYH7 TNNI3 TPM1
4 actin binding GO:0003779 9.63 MYBPC3 MYH6 MYH7 TNNI3 TNNT2 TPM1
5 cysteine-type endopeptidase activity GO:0004197 9.62 CASP1 CASP10 CASP3 CASP7
6 microfilament motor activity GO:0000146 9.56 MYH6 MYH7
7 cysteine-type endopeptidase activator activity involved in apoptotic process GO:0008656 9.55 CASP1 CASP3
8 tropomyosin binding GO:0005523 9.54 TNNT1 TNNT2
9 actin-dependent ATPase activity GO:0030898 9.51 MYH6 MYH7
10 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 9.48 CASP3 CASP7
11 troponin T binding GO:0031014 9.46 TNNI3 TNNT1
12 calcium-dependent ATPase activity GO:0030899 9.43 TNNT1 TNNT2
13 troponin C binding GO:0030172 9.4 TNNI3 TNNT2
14 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 9.13 CASP1 CASP10 CASP3
15 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 8.92 CASP1 CASP10 CASP3 CASP7
16 protein binding GO:0005515 10.32 BTC CASP1 CASP10 CASP3 CASP7 CAV3

Sources for Cardiomyopathy, Familial Hypertrophic, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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