CMH1
MCID: CRD086
MIFTS: 65

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 57 13 73
Asymmetric Septal Hypertrophy 57 76 75 29 6 73
Familial Hypertrophic Cardiomyopathy 12 53 25 75 15
Cmh1 57 12 75
Hypertrophic Subaortic Stenosis, Idiopathic 57 75
Cardiomyopathy, Familial Hypertrophic 1 12 75
Familial Hypertrophic Cardiomyopathy 1 29 6
Cardiomyopathy, Hypertrophic, Familial 44 73
Cardiomyopathy, Familial Hypertrophic 57 75
Heritable Hypertrophic Cardiomyopathy 53 25
Ventricular Hypertrophy, Hereditary 57 75
Hypertrophic Cardiomyopathy 1 12 15
Hypertrophic Cardiomyopathy 75 73
Cmh 57 75
Ash 57 75
Hcm 25 75
Cardiomyopathy, Hypertrophic, Familial, Type 1 40
Idiopathic Hypertrophic Subaortic Stenosis 25
Cardiomyopathy, Hypertrophic, 1, Digenic 57
Familial Asymmetric Septal Hypertrophy 25
Cardiomyopathy Familial Hypertrophic 53
Asymmetric Septal Hypertrophy; Ash 57
Hereditary Ventricular Hypertrophy 25
Cardiomyopathy, Hypertrophic, 1 57
Familial Hcm 53
Fhc 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
digenic (see miscellaneous)

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


HPO:

32
cardiomyopathy, familial hypertrophic, 1:
Mortality/Aging sudden death
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiomyopathy, Familial Hypertrophic, 1

NIH Rare Diseases : 53 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 cardiomyopathy, familial hypertrophic, 4 and myopathy. 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, bone and kidney, 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 : 25 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 : 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)

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.

Wikipedia : 76 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, 19
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 426)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic, 4 34.1 MYBPC2 MYBPC3 TTN
2 myopathy 30.8 CAV3 MYH7 TNNT1 TTN
3 cardiac arrest 30.6 MYBPC3 MYH7 TNNT2
4 left ventricular noncompaction 30.4 MYBPC3 MYH6 MYH7 TNNT2 TPM1 TTN
5 myocardial infarction 30.2 CASP1 CASP3 TNNI3 TNNT1 TNNT2
6 wolff-parkinson-white syndrome 30.2 MYH7 TNNI3 TNNT1
7 atrial standstill 1 30.1 MYBPC3 MYH6 MYH7 TNNI3 TNNT2 TTN
8 miyoshi muscular dystrophy 29.9 CAV3 MYH7 TTN
9 heart disease 29.8 MYBPC3 MYH6 MYH7 TNNI3 TNNT2 TTN
10 hypertrophic cardiomyopathy 29.7 CAV3 MYBPC2 MYBPC3 MYH6 MYH7 TNNI3
11 restrictive cardiomyopathy 29.6 MYBPC3 MYH7 TNNI3 TNNT1 TNNT2 TPM1
12 dilated cardiomyopathy 29.2 MYBPC2 MYBPC3 MYH6 MYH7 TNNI3 TNNT1
13 cardiomyopathy, familial hypertrophic, 2 12.5
14 cardiomyopathy, familial hypertrophic, 3 12.5
15 cardiomyopathy, familial hypertrophic, 6 12.5
16 cardiomyopathy, familial hypertrophic, 8 12.5
17 cardiomyopathy, familial hypertrophic, 10 12.5
18 cardiomyopathy, familial hypertrophic, 11 12.5
19 cardiomyopathy, familial hypertrophic, 12 12.5
20 cardiomyopathy, familial hypertrophic, 13 12.5
21 cardiomyopathy, familial hypertrophic, 14 12.5
22 cardiomyopathy, familial hypertrophic, 15 12.5
23 cardiomyopathy, familial hypertrophic, 7 12.5
24 cardiomyopathy, familial hypertrophic, 9 12.5
25 cardiomyopathy, familial hypertrophic, 16 12.5
26 cardiomyopathy, familial hypertrophic, 17 12.5
27 cardiomyopathy, familial hypertrophic, 18 12.5
28 cardiomyopathy, familial hypertrophic, 19 12.5
29 cardiomyopathy, familial hypertrophic, 20 12.5
30 cardiomyopathy, familial hypertrophic, 26 12.5
31 cardiomyopathy, familial hypertrophic, 25 12.5
32 fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency 12.3
33 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial dna mutation 12.3
34 hypertrophic cardiomyopathy due to intensive athletic training 12.2
35 congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome 12.2
36 lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy 12.2
37 combined oxidative phosphorylation deficiency 16 12.1
38 deafness, autosomal dominant 22 12.0
39 combined oxidative phosphorylation deficiency 10 12.0
40 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 11.9
41 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction 11.9
42 cardiomyopathy, dilated, 1kk 11.9
43 cardiomyopathy, infantile hypertrophic 11.8
44 sengers syndrome 11.8
45 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 11.8
46 costello syndrome 11.7
47 hypercholesterolemia, familial 11.7
48 combined oxidative phosphorylation deficiency 8 11.6
49 combined oxidative phosphorylation deficiency 17 11.6
50 mitochondrial complex iv deficiency 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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
hypertrophic cardiomyopathy
arrhythmia
congestive heart failure
sudden death
subaortic stenosis
more

Clinical features from OMIM:

192600

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 1:

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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 BTC CASP1 CASP3 CASP7 CAV3 MYBPC3
2 muscle MP:0005369 9.36 BTC CASP3 CAV3 MYBPC3 MYH6 MYH7

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 29 CAV3 MYH6 MYH7 MYLK2
2 Asymmetric Septal Hypertrophy 29

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 1

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

41
Heart, Bone, Kidney, Liver, B Cells, Myeloid, Bone Marrow

Publications for Cardiomyopathy, Familial Hypertrophic, 1

Articles related to Cardiomyopathy, Familial Hypertrophic, 1:

(show top 50) (show all 102)
# Title Authors Year
1
Comparison of Frequency of Ischemic Cardiovascular Events in Patients With Aortic Stenosis With Versus Without Asymmetric Septal Hypertrophy (from the SEAS Trial). ( 28132685 )
2017
2
Asymmetric septal hypertrophy in patients with severe aortic stenosis: the usefulness of associated septal myectomy. ( 22341422 )
2013
3
Effect of concomitant asymmetric septal hypertrophy when assessing the severity of aortic valve stenosis: an in-vitro study. ( 23167227 )
2012
4
Vanishing asymmetric septal hypertrophy in a patient with hypertrophic obstructive cardiomyopathy. ( 21545939 )
2011
5
Asymmetric septal hypertrophy in patients with coronary artery disease. ( 20382976 )
2010
6
Asymmetric septal hypertrophy - a marker of hypertension in aortic stenosis (a SEAS substudy). ( 20429691 )
2010
7
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
8
Valsalva maneuver, uncontrolled hypertension, asymmetric septal hypertrophy and dynamic outflow obstruction: a case report. ( 19152678 )
2009
9
Left ventricular outflow tract obstruction in the presence of asymmetric septal hypertrophy and accessory mitral valve tissue treated with alcohol septal ablation. ( 18490281 )
2008
10
Asymmetric septal hypertrophy with perimembranous septal defect and obstructive right ventricular outflow tract in a patient with hypertrophic cardiomyopathy. ( 17513218 )
2007
11
Asymmetric septal hypertrophy complicated by dynamic left ventricular obstruction after intra-aortic balloon counterpulsation placement in the setting of anterior myocardial infarction. ( 16816450 )
2006
12
Washout rates of Tc-99m tetrofosmin in asymmetric septal hypertrophy. ( 15770970 )
2005
13
Comparison of the clinical features of apical hypertrophic cardiomyopathy versus asymmetric septal hypertrophy in Korea. ( 16134764 )
2005
14
Asymmetric septal hypertrophy presenting with cardiogenic shock, complete heart block, and septal infarction despite normal coronaries. ( 15029113 )
2004
15
Asymmetric septal hypertrophy in heterozygous cMyBP-C null mice. ( 15249187 )
2004
16
Double-chambered right ventricle mimicking asymmetric septal hypertrophy. ( 12718381 )
2003
17
Asymmetric septal hypertrophy in an infant exposed to ritodrine in utero. ( 11186965 )
2000
18
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
19
Clinicopathologic heterogeneity in hypertrophic cardiomyopathy with regard to age, asymmetric septal hypertrophy, and concentric hypertrophy beyond the pediatric age group. ( 9593345 )
1998
20
Acute myocarditis with eosinophilia presenting as asymmetric septal hypertrophy during pregnancy. ( 9158301 )
1997
21
Cardiac risk of noncardiac surgery in patients with asymmetric septal hypertrophy. ( 8712439 )
1996
22
Asymmetric septal hypertrophy in infants of diabetic mothers. ( 1514543 )
1992
23
Hemodialysis-induced subaortic obstruction in asymmetric septal hypertrophy. ( 1539540 )
1992
24
Asymmetric septal hypertrophy in infants of diabetic mothers. Fetal echocardiography and the impact of maternal diabetic control. ( 1733154 )
1992
25
A case of hypereosinophilic syndrome with asymmetric septal hypertrophy. ( 2071548 )
1991
26
Pheochromocytoma with asymmetric septal hypertrophy and Wolff-Parkinson-White syndrome. ( 1791095 )
1991
27
Asymmetric septal hypertrophy in a 41-year-old woman with Noonan's syndrome. ( 2347236 )
1990
28
Asymmetric septal hypertrophy associated with hypothyroidism. ( 2361745 )
1990
29
Acute myocarditis presenting as asymmetric septal hypertrophy. ( 2706576 )
1989
30
Residual left ventricular function and prognosis of patients with asymmetric septal hypertrophy recovering from acute myocardial infarction. ( 2525862 )
1989
31
Asymmetric septal hypertrophy and left atrial dilatation in patients with end-stage renal disease on long-term hemodialysis. ( 2532998 )
1989
32
Mechanism of development of asymmetric septal hypertrophy in patients with essential systemic hypertension. ( 2533275 )
1989
33
Valvular aortic stenosis and asymmetric septal hypertrophy: diagnostic considerations and clinical and therapeutic implications. ( 3042405 )
1988
34
Acute myocardial ischemia with prolonged left ventricular dyskinesia and mural thrombus formation in asymmetric septal hypertrophy. ( 3349853 )
1988
35
Idiopathic giant cell myocarditis accompanied by asymmetric septal hypertrophy. ( 2955139 )
1987
36
Malignant hypertension and asymmetric septal hypertrophy in a 43-year-old black man. ( 3765616 )
1986
37
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
38
Asymmetric septal hypertrophy (ASH) in valvular aortic stenosis should not be resected at the time of surgery. ( 3487889 )
1986
39
Prenatal ultrasonic diagnosis of familial asymmetric septal hypertrophy. ( 3529074 )
1986
40
Asymmetric septal hypertrophy should be resected during aortic valve replacement. ( 3727687 )
1986
41
Difference in the response to isoproterenol between asymmetric septal hypertrophy and symmetric hypertrophy in patients with hypertrophic cardiomyopathy. ( 3943236 )
1986
42
Reversible asymmetric septal hypertrophy in acute myocarditis. Serial findings of two-dimensional echocardiogram and thallium-201 scintigram. ( 3162041 )
1985
43
Asymmetric septal hypertrophy and hypothyroidism in children. ( 2932134 )
1985
44
Estimation of regional stress in the left ventricular septum and free wall: an echocardiographic study suggesting a mechanism for asymmetric septal hypertrophy. ( 3160227 )
1985
45
Asymmetric septal hypertrophy of the heart. New findings concerning the possible etiology of sudden deaths in five males. ( 3161322 )
1985
46
Asymmetric septal hypertrophy in uremic-normotensive patients on regular hemodialysis. An M-mode and two-dimensional echocardiographic study. ( 3969188 )
1985
47
Asymmetric septal hypertrophy and sympathetic overactivity in normotensive hemodialyzed patients. ( 4038842 )
1985
48
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
49
Asymmetric septal hypertrophy in Kearns-Sayre syndrome. ( 6541986 )
1984
50
Pheochromocytoma with asymmetric septal hypertrophy: conflicting therapies confronting anesthesiologists. ( 6143406 )
1984

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 441)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYLK2 NM_033118.3(MYLK2): c.260C> T (p.Ala87Val) single nucleotide variant Uncertain significance rs121908107 GRCh37 Chromosome 20, 30408136: 30408136
2 MYLK2 NM_033118.3(MYLK2): c.260C> T (p.Ala87Val) single nucleotide variant Uncertain significance rs121908107 GRCh38 Chromosome 20, 31820333: 31820333
3 MYLK2 NM_033118.3(MYLK2): c.284C> A (p.Ala95Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs121908108 GRCh37 Chromosome 20, 30408160: 30408160
4 MYLK2 NM_033118.3(MYLK2): c.284C> A (p.Ala95Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs121908108 GRCh38 Chromosome 20, 31820357: 31820357
5 CAV3 NM_033337.2(CAV3): c.216C> G (p.Cys72Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs116840776 GRCh37 Chromosome 3, 8787313: 8787313
6 CAV3 NM_033337.2(CAV3): c.216C> G (p.Cys72Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs116840776 GRCh38 Chromosome 3, 8745627: 8745627
7 MYBPC3 NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln) single nucleotide variant Pathogenic rs121909374 GRCh37 Chromosome 11, 47364129: 47364129
8 MYBPC3 NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln) single nucleotide variant Pathogenic rs121909374 GRCh38 Chromosome 11, 47342578: 47342578
9 TNNT2 NM_000364.3(TNNT2): c.853C> T (p.Arg285Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121964857 GRCh37 Chromosome 1, 201328373: 201328373
10 TNNT2 NM_000364.3(TNNT2): c.853C> T (p.Arg285Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121964857 GRCh38 Chromosome 1, 201359245: 201359245
11 MYL3 NM_000258.2(MYL3): c.461G> A (p.Arg154His) single nucleotide variant Conflicting interpretations of pathogenicity rs104893749 GRCh37 Chromosome 3, 46900985: 46900985
12 MYL3 NM_000258.2(MYL3): c.461G> A (p.Arg154His) single nucleotide variant Conflicting interpretations of pathogenicity rs104893749 GRCh38 Chromosome 3, 46859495: 46859495
13 MYL2 NM_000432.3(MYL2): c.37G> A (p.Ala13Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs104894363 GRCh37 Chromosome 12, 111356964: 111356964
14 MYL2 NM_000432.3(MYL2): c.37G> A (p.Ala13Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs104894363 GRCh38 Chromosome 12, 110919160: 110919160
15 MYL2 NM_000432.3(MYL2): c.37G> A (p.Ala13Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs104894363 NCBI36 Chromosome 12, 109841347: 109841347
16 MYH7 NM_000257.3(MYH7): c.1208G> A (p.Arg403Gln) single nucleotide variant Pathogenic rs121913624 GRCh37 Chromosome 14, 23898487: 23898487
17 MYH7 NM_000257.3(MYH7): c.1208G> A (p.Arg403Gln) single nucleotide variant Pathogenic rs121913624 GRCh38 Chromosome 14, 23429278: 23429278
18 MYH7 NM_000257.3(MYH7): c.746G> A (p.Arg249Gln) single nucleotide variant Pathogenic/Likely pathogenic rs3218713 GRCh37 Chromosome 14, 23900677: 23900677
19 MYH7 NM_000257.3(MYH7): c.746G> A (p.Arg249Gln) single nucleotide variant Pathogenic/Likely pathogenic rs3218713 GRCh38 Chromosome 14, 23431468: 23431468
20 MYH7 NM_000257.3(MYH7): c.1357C> T (p.Arg453Cys) single nucleotide variant Pathogenic rs121913625 GRCh37 Chromosome 14, 23898214: 23898214
21 MYH7 NM_000257.3(MYH7): c.1357C> T (p.Arg453Cys) single nucleotide variant Pathogenic rs121913625 GRCh38 Chromosome 14, 23429005: 23429005
22 MYH7 NM_000257.3(MYH7): c.1750G> C (p.Gly584Arg) single nucleotide variant Pathogenic rs121913626 GRCh37 Chromosome 14, 23896932: 23896932
23 MYH7 NM_000257.3(MYH7): c.1750G> C (p.Gly584Arg) single nucleotide variant Pathogenic rs121913626 GRCh38 Chromosome 14, 23427723: 23427723
24 MYH7 NM_000257.3(MYH7): c.1816G> A (p.Val606Met) single nucleotide variant Pathogenic/Likely pathogenic rs121913627 GRCh37 Chromosome 14, 23896866: 23896866
25 MYH7 NM_000257.3(MYH7): c.1816G> A (p.Val606Met) single nucleotide variant Pathogenic/Likely pathogenic rs121913627 GRCh38 Chromosome 14, 23427657: 23427657
26 MYH7 NM_000257.3(MYH7): c.2770G> A (p.Glu924Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913628 GRCh37 Chromosome 14, 23893268: 23893268
27 MYH7 NM_000257.3(MYH7): c.2770G> A (p.Glu924Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913628 GRCh38 Chromosome 14, 23424059: 23424059
28 MYH7 NM_000257.3(MYH7): c.2845G> A (p.Glu949Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs121913629 GRCh37 Chromosome 14, 23893193: 23893193
29 MYH7 NM_000257.3(MYH7): c.2845G> A (p.Glu949Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs121913629 GRCh38 Chromosome 14, 23423984: 23423984
30 MYH7 NM_000257.3(MYH7): c.1046T> C (p.Met349Thr) single nucleotide variant Uncertain significance rs121913640 GRCh37 Chromosome 14, 23899076: 23899076
31 MYH7 NM_000257.3(MYH7): c.1046T> C (p.Met349Thr) single nucleotide variant Uncertain significance rs121913640 GRCh38 Chromosome 14, 23429867: 23429867
32 MYH7 NM_000257.3(MYH7): c.2167C> T (p.Arg723Cys) single nucleotide variant Pathogenic rs121913630 GRCh37 Chromosome 14, 23895023: 23895023
33 MYH7 NM_000257.3(MYH7): c.2167C> T (p.Arg723Cys) single nucleotide variant Pathogenic rs121913630 GRCh38 Chromosome 14, 23425814: 23425814
34 MYH7 nsv513807 deletion Pathogenic
35 MYH7 NM_000257.3(MYH7): c.2722C> G (p.Leu908Val) single nucleotide variant Pathogenic rs121913631 GRCh37 Chromosome 14, 23893316: 23893316
36 MYH7 NM_000257.3(MYH7): c.2722C> G (p.Leu908Val) single nucleotide variant Pathogenic rs121913631 GRCh38 Chromosome 14, 23424107: 23424107
37 MYH7 NM_000257.3(MYH7): c.2221G> C (p.Gly741Arg) single nucleotide variant Pathogenic rs121913632 GRCh37 Chromosome 14, 23894969: 23894969
38 MYH7 NM_000257.3(MYH7): c.2221G> C (p.Gly741Arg) single nucleotide variant Pathogenic rs121913632 GRCh38 Chromosome 14, 23425760: 23425760
39 MYH7 NM_000257.3(MYH7): c.767G> A (p.Gly256Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121913633 GRCh37 Chromosome 14, 23900656: 23900656
40 MYH7 NM_000257.3(MYH7): c.767G> A (p.Gly256Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121913633 GRCh38 Chromosome 14, 23431447: 23431447
41 MYH7 NM_000257.3(MYH7): c.2333A> G (p.Asp778Gly) single nucleotide variant Pathogenic rs121913634 GRCh37 Chromosome 14, 23894581: 23894581
42 MYH7 NM_000257.3(MYH7): c.2333A> G (p.Asp778Gly) single nucleotide variant Pathogenic rs121913634 GRCh38 Chromosome 14, 23425372: 23425372
43 MYH7 NM_000257.3(MYH7): c.1208G> T (p.Arg403Leu) single nucleotide variant Pathogenic rs121913624 GRCh37 Chromosome 14, 23898487: 23898487
44 MYH7 NM_000257.3(MYH7): c.1208G> T (p.Arg403Leu) single nucleotide variant Pathogenic rs121913624 GRCh38 Chromosome 14, 23429278: 23429278
45 MYH7 NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh37 Chromosome 14, 23898488: 23898488
46 MYH7 NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh38 Chromosome 14, 23429279: 23429279
47 MYH7 NM_000257.3(MYH7): c.1538T> G (p.Phe513Cys) single nucleotide variant Pathogenic rs121913636 GRCh37 Chromosome 14, 23897749: 23897749
48 MYH7 NM_000257.3(MYH7): c.1538T> G (p.Phe513Cys) single nucleotide variant Pathogenic rs121913636 GRCh38 Chromosome 14, 23428540: 23428540
49 MYH7 NM_000257.3(MYH7): c.2155C> T (p.Arg719Trp) single nucleotide variant Pathogenic rs121913637 GRCh37 Chromosome 14, 23895180: 23895180
50 MYH7 NM_000257.3(MYH7): c.2155C> T (p.Arg719Trp) single nucleotide variant Pathogenic rs121913637 GRCh38 Chromosome 14, 23425971: 23425971

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
13.2 BTC CASP1 CASP10 CASP3 CASP7 MYH6
2
Show member pathways
12.77 CASP3 CASP7 GZMB MYH6 MYH7
3
Show member pathways
12.72 CASP1 CASP10 CASP3 CASP7 GZMB
4
Show member pathways
12.67 MYH6 MYH7 TNNI3 TNNT2 TPM1
5
Show member pathways
12.54 CAV3 MYBPC2 MYBPC3 MYH6 TNNI3 TNNT1
6
Show member pathways
12.39 BTC CASP1 CASP10 CASP3 CASP7
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
12.12 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 11.81 CASP1 CASP10 CASP3 CASP7
18
Show member pathways
11.74 MYBPC3 MYH6 MYH7 TNNI3 TNNT2 TPM1
19
Show member pathways
11.71 CASP10 CASP3 CASP7
20 11.66 CASP1 CASP3 CASP7
21 11.55 MYH6 MYH7 TNNI3 TNNT2 TPM1
22 11.48 CASP1 CASP3 CASP7
23 11.46 MYH6 TNNI3 TNNT2
24
Show member pathways
11.4 CASP3 CASP7 GZMB
25 11.26 CASP10 CASP3 CASP7
26 11.08 MYBPC2 MYBPC3 MYH6 TNNI3 TNNT1 TNNT2
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 13)
# Name GO ID Score Top Affiliating Genes
1 stress fiber GO:0001725 9.67 MYH6 MYH7 TPM1
2 M band GO:0031430 9.63 MYBPC2 MYBPC3 TTN
3 Z disc GO:0030018 9.63 CAV3 MYBPC2 MYBPC3 MYH6 MYH7 TTN
4 striated muscle thin filament GO:0005865 9.62 MYBPC2 MYBPC3 TNNT2 TTN
5 troponin complex GO:0005861 9.58 TNNI3 TNNT1 TNNT2
6 myosin filament GO:0032982 9.56 MYBPC2 MYBPC3 MYH6 MYH7
7 cardiac myofibril GO:0097512 9.54 MYBPC3 TNNI3 TNNT2
8 muscle myosin complex GO:0005859 9.52 MYH6 MYH7
9 cardiac Troponin complex GO:1990584 9.48 TNNI3 TNNT2
10 myofibril GO:0030016 9.35 MYH6 MYH7 TNNI3 TNNT2 TPM1
11 sarcomere GO:0030017 9.28 MYBPC2 MYBPC3 MYH6 MYH7 MYLK2 TNNI3
12 cytoplasm GO:0005737 10.36 CASP1 CASP10 CASP3 CASP7 CAV3 FKBP5
13 cytosol GO:0005829 10.28 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 muscle contraction GO:0006936 9.85 CAV3 MYBPC2 MYBPC3 MYH6 MYH7 TNNI3
2 regulation of heart contraction GO:0008016 9.81 CAV3 MYH6 TNNT2 TPM1
3 skeletal muscle contraction GO:0003009 9.8 MYH7 TNNI3 TNNT1 TNNT2
4 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.8 MYBPC3 MYH6 MYH7 TNNI3 TNNT2 TPM1
5 sarcomere organization GO:0045214 9.8 MYBPC2 MYBPC3 MYH6 TNNT1 TNNT2 TPM1
6 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.79 CASP1 CASP10 CASP3
7 execution phase of apoptosis GO:0097194 9.78 CASP1 CASP10 CASP3 CASP7
8 apoptotic signaling pathway GO:0097190 9.77 CASP1 CASP10 CASP3
9 striated muscle contraction GO:0006941 9.77 MYH6 MYH7 MYLK2 TNNI3 TTN
10 positive regulation of ATPase activity GO:0032781 9.76 MYBPC3 TNNT2 TPM1
11 cardiac muscle tissue morphogenesis GO:0055008 9.76 MYBPC2 MYBPC3 MYLK2 TTN
12 regulation of heart rate GO:0002027 9.74 CAV3 MYH6 MYH7
13 regulation of muscle contraction GO:0006937 9.73 TNNI3 TNNT1 TNNT2 TPM1
14 cardiac myofibril assembly GO:0055003 9.72 MYBPC2 MYBPC3 TTN
15 skeletal muscle thin filament assembly GO:0030240 9.71 MYBPC2 MYBPC3 TTN
16 cardiac muscle fiber development GO:0048739 9.71 MYBPC2 MYBPC3 MYH6 TTN
17 skeletal muscle myosin thick filament assembly GO:0030241 9.7 MYBPC2 MYBPC3 TTN
18 regulation of the force of heart contraction GO:0002026 9.63 MYH6 MYH7
19 adult heart development GO:0007512 9.63 MYH6 MYH7
20 cardiac muscle hypertrophy in response to stress GO:0014898 9.62 MYH6 MYH7
21 negative regulation of ATPase activity GO:0032780 9.62 TNNI3 TNNT2
22 transition between fast and slow fiber GO:0014883 9.61 MYH7 TNNT1
23 cardiac muscle contraction GO:0060048 9.61 MYBPC3 MYH6 MYH7 MYLK2 TNNI3 TNNT1
24 cellular response to staurosporine GO:0072734 9.59 CASP3 CASP7
25 detection of muscle stretch GO:0035995 9.58 CAV3 TTN
26 regulation of muscle filament sliding GO:0032971 9.56 MYBPC3 MYLK2
27 muscle filament sliding GO:0030049 9.28 MYBPC2 MYBPC3 MYH6 MYH7 TNNI3 TNNT1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.96 CASP1 CASP10 CASP3 CASP7 GZMB
2 calmodulin binding GO:0005516 9.84 MYH6 MYH7 MYLK2 TTN
3 cysteine-type peptidase activity GO:0008234 9.83 CASP1 CASP10 CASP3 CASP7
4 actin binding GO:0003779 9.8 MYBPC3 MYH6 MYH7 TNNI3 TNNT2 TPM1
5 cysteine-type endopeptidase activity GO:0004197 9.71 CASP1 CASP10 CASP3 CASP7
6 microfilament motor activity GO:0000146 9.58 MYH6 MYH7
7 cysteine-type endopeptidase activator activity involved in apoptotic process GO:0008656 9.58 CASP1 CASP3
8 tropomyosin binding GO:0005523 9.57 TNNT1 TNNT2
9 structural constituent of muscle GO:0008307 9.56 MYBPC2 MYBPC3 TPM1 TTN
10 actin-dependent ATPase activity GO:0030898 9.55 MYH6 MYH7
11 muscle alpha-actinin binding GO:0051371 9.54 MYBPC2 MYBPC3 TTN
12 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 9.51 CASP3 CASP7
13 troponin T binding GO:0031014 9.49 TNNI3 TNNT1
14 calcium-dependent ATPase activity GO:0030899 9.48 TNNT1 TNNT2
15 troponin C binding GO:0030172 9.46 TNNI3 TNNT2
16 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 9.33 CASP1 CASP10 CASP3
17 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.26 CASP1 CASP10 CASP3 CASP7
18 actin filament binding GO:0051015 9.17 MYBPC2 MYBPC3 MYH6 MYH7 TNNI3 TPM1
19 protein binding GO:0005515 10.39 BTC CASP1 CASP10 CASP3 CASP7 CAV3

Sources for Cardiomyopathy, Familial Hypertrophic, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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