MCID: CRD086
MIFTS: 52

Cardiomyopathy, Familial Hypertrophic, 1

Categories: Genetic diseases, Cardiovascular diseases, Rare 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
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:



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...

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:



Diseases related to Cardiomyopathy, Familial Hypertrophic, 1

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 Frequency 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

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 1

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

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

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 )
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 )
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 )
1998
4
Myocardial glucose metabolism is different between hypertrophic cardiomyopathy and hypertensive heart disease associated with asymmetrical septal hypertrophy. ( 9261931 )
1997
5
Acute myocarditis with eosinophilia presenting as asymmetric septal hypertrophy during pregnancy. ( 9158301 )
1997
6
A case of hypereosinophilic syndrome with asymmetric septal hypertrophy. ( 2071548 )
1991
7
Acute myocarditis presenting as asymmetric septal hypertrophy. ( 2706576 )
1989
8
Idiopathic giant cell myocarditis accompanied by asymmetric septal hypertrophy. ( 2955139 )
1987
9
Malignant hypertension and asymmetric septal hypertrophy in a 43-year-old black man. ( 3765616 )
1986
10
Reversible asymmetric septal hypertrophy in acute myocarditis. Serial findings of two-dimensional echocardiogram and thallium-201 scintigram. ( 3162041 )
1985
11
Asymmetric septal hypertrophy in Kearns-Sayre syndrome. ( 6541986 )
1984
12
Inferior myocardial infarction as a cause of asymmetric septal hypertrophy. An echocardiographic study. ( 148208 )
1978
13
Dynamic left ventricular outflow tract obstruction and systolic anterior motion of the mitral valve in the absence of asymmetric septal hypertrophy. ( 568385 )
1978
14
Familial prevalence of asymmetric septal hypertrophy. ( 964283 )
1976

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

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
12.98 BTC CASP1 CASP10 CASP3 CASP7 MYH6
2
Show member pathways
12.71 CASP3 CASP7 GZMB MYH6 MYH7
3
Show member pathways
12.69 CASP1 CASP10 CASP3 CASP7
4
Show member pathways
12.64 CASP1 CASP10 CASP3 CASP7 GZMB
5
Show member pathways
12.51 CASP1 CASP10 CASP3 CASP7
6
Show member pathways
12.31 CASP1 CASP10 CASP3 CASP7
7
Show member pathways
12.21 BTC CASP1 CASP10 CASP3 CASP7
8
Show member pathways
12.15 MYH6 MYH7 MYLK2
9
Show member pathways
12.09 CASP1 CASP10 CASP3 CASP7
10 12.06 CASP1 CASP3 CASP7 GZMB
11
Show member pathways
12.03 MYBPC3 MYH6 MYH7
12
Show member pathways
12.01 CASP1 CASP10 CASP3 CASP7 GZMB
13
Show member pathways
11.87 CASP3 CASP7 GZMB
14 11.86 CASP1 CASP10 CASP3 CASP7
15 11.79 CASP10 CASP3 CASP7
16
Show member pathways
11.73 CASP10 CASP3 GZMB MYH6 MYH7
17 11.71 CASP1 CASP10 CASP3 CASP7
18
Show member pathways
11.67 CASP10 CASP3 CASP7
19
Show member pathways
11.65 CASP1 CASP10 CASP3 CASP7
20 11.61 CASP1 CASP3 CASP7
21 11.46 CASP1 CASP3 CASP7
22
Show member pathways
11.38 CASP3 CASP7 GZMB
23
Show member pathways
11.28 CASP1 CASP10 CASP3 CASP7 GZMB
24 11.25 CASP1 CASP7
25 11.23 CASP10 CASP3 CASP7
26 11.13 CASP1 CASP3
27
Show member pathways
11.07 CASP3 CASP7
28 10.74 CASP3 CASP7

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 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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