MCID: CRD194
MIFTS: 61

Cardiomyopathy, Familial Hypertrophic

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic:

Name: Cardiomyopathy, Familial Hypertrophic 54 71 38
Hypertrophic Cardiomyopathy 12 23 71 29 14 69
Familial Hypertrophic Cardiomyopathy 12 50 24 25 71
Asymmetric Septal Hypertrophy 71 29 69
Cardiomyopathy, Familial Hypertrophic, 1 13 69
Cardiomyopathy, Familial Hypertrophic 1 12 71
Cardiomyopathy, Hypertrophic, Familial 42 69
Heritable Hypertrophic Cardiomyopathy 50 25
Hypertrophic Cardiomyopathy 1 12 14
Cmh1 12 71
Hcm 25 71
Hypertrophic Subaortic Stenosis, Idiopathic 71
Idiopathic Hypertrophic Subaortic Stenosis 25
Cardiomyopathy, Hypertrophic, 1, Digenic 54
Hypertrophic Obstructive Cardiomyopathy 12
Cardiomyopathy Hypertrophic Obstructive 52
Familial Asymmetric Septal Hypertrophy 25
Familial Hypertrophic Cardiomyopathy 1 29
Cardiomyopathy Familial Hypertrophic 50
Ventricular Hypertrophy, Hereditary 71
Hereditary Ventricular Hypertrophy 25
Cardiomyopathy, Hypertrophic, 1 54
Cardiomyopathy, Hypertrophic 42
Familial Hcm 50
Ash 71
Fhc 71
Cmh 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

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


Classifications:



Summaries for Cardiomyopathy, Familial Hypertrophic

NIH Rare Diseases : 50 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). last updated: 12/28/2016

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, also known as hypertrophic cardiomyopathy, is related to cardiomyopathy, familial hypertrophic, 9 and cardiomyopathy, familial hypertrophic, 26, and has symptoms including arrhythmia, congestive heart failure and subaortic stenosis. An important gene associated with Cardiomyopathy, Familial Hypertrophic is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are Hypertrophic cardiomyopathy (HCM) and Vascular smooth muscle contraction. The drugs Perhexiline and calcium channel blockers have been mentioned in the context of this disorder. Affiliated tissues include heart and testes, and related phenotypes are cardiovascular system and muscle

UniProtKB/Swiss-Prot : 71 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.

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 : 54
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 An intrinsic cardiomyopathy that has material basis in autosomal dominant inheritance and that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.

Wikipedia : 72 Hypertrophic cardiomyopathy (HCM) is a disease in which a portion of the myocardium (heart muscle) is... more...

GeneReviews: NBK1768

Related Diseases for Cardiomyopathy, Familial Hypertrophic

Diseases in the Cardiomyopathy, Familial Hypertrophic family:

Cardiomyopathy, Hypertrophic, 20 Cardiomyopathy, Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 9 Cardiomyopathy, Hypertrophic, 13
Cardiomyopathy, Hypertrophic, 8 Cardiomyopathy, Hypertrophic, 16
Cardiomyopathy, Hypertrophic, 18 Cardiomyopathy, Familial Hypertrophic, 26
Cardiomyopathy, Hypertrophic 6 Cardiomyopathy, Hypertrophic, 15
Cardiomyopathy, Hypertrophic, 12 Cardiomyopathy, Hypertrophic, 4
Cardiomyopathy, Hypertrophic, 10 Cardiomyopathy, Hypertrophic, 14
Cardiomyopathy, Hypertrophic, 11 Cardiomyopathy, Hypertrophic, 3
Cardiomyopathy, Hypertrophic, 25 Cardiomyopathy, Hypertrophic, 19
Cardiomyopathy, Hypertrophic, 7 Cardiomyopathy, Hypertrophic, 17
Hypertrophic Cardiomyopathy 21 Actc1-Related Familial Hypertrophic Cardiomyopathy
Actn2-Related Familial Hypertrophic Cardiomyopathy Calr3-Related Familial Hypertrophic Cardiomyopathy
Cav3-Related Hypertrophic Cardiomyopathy Csrp3-Related Familial Hypertrophic Cardiomyopathy
Jph2-Related Familial Hypertrophic Cardiomyopathy Mybpc3-Related Familial Hypertrophic Cardiomyopathy
Myh6-Related Familial Hypertrophic Cardiomyopathy Myh7-Related Familial Hypertrophic Cardiomyopathy
Myl2-Related Familial Hypertrophic Cardiomyopathy Myl3-Related Familial Hypertrophic Cardiomyopathy
Myoz2-Related Familial Hypertrophic Cardiomyopathy Nexn-Related Familial Hypertrophic Cardiomyopathy
Pln-Related Familial Hypertrophic Cardiomyopathy Tcap-Related Familial Hypertrophic Cardiomyopathy
Tnnc1-Related Familial Hypertrophic Cardiomyopathy Tnni3-Related Familial Hypertrophic Cardiomyopathy
Tnnt2-Related Familial Hypertrophic Cardiomyopathy Tpm1-Related Familial Hypertrophic Cardiomyopathy
Ttn-Related Familial Hypertrophic Cardiomyopathy Vcl-Related Familial Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy Due to Intensive Athletic Training Cardiomyopathy, Infantile Hypertrophic

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

(show top 50) (show all 94)
id Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic, 9 12.2
2 cardiomyopathy, familial hypertrophic, 26 12.2
3 cardiomyopathy, hypertrophic, 20 11.6
4 cardiomyopathy, hypertrophic, 2 11.6
5 cardiomyopathy, hypertrophic, 12 11.6
6 cardiomyopathy, hypertrophic, 4 11.6
7 cardiomyopathy, hypertrophic, 13 11.6
8 cardiomyopathy, hypertrophic, 10 11.6
9 cardiomyopathy, hypertrophic, 8 11.6
10 cardiomyopathy, hypertrophic, 14 11.6
11 cardiomyopathy, hypertrophic, 16 11.6
12 cardiomyopathy, hypertrophic, 18 11.6
13 cardiomyopathy, hypertrophic, 11 11.6
14 cardiomyopathy, hypertrophic, 3 11.6
15 cardiomyopathy, hypertrophic 6 11.6
16 cardiomyopathy, hypertrophic, 7 11.6
17 cardiomyopathy, hypertrophic, 17 11.6
18 cardiomyopathy, hypertrophic, 15 11.6
19 cardiomyopathy, dilated, 1aa, with or without lvnc 11.6
20 cardiomyopathy, hypertrophic, 25 11.6
21 cardiomyopathy, hypertrophic, 19 11.6
22 cardiomyopathy, dilated, 1c, with or without lvnc 11.5
23 cardiomyopathy, dilated, 1kk 11.5
24 histiocytosis-lymphadenopathy plus syndrome 11.2
25 fitz-hugh-curtis syndrome 11.1
26 global developmental delay-osteopenia-ectodermal defect syndrome 11.1 MYPN TNNI3 TNNT2
27 vcl-related familial hypertrophic cardiomyopathy 11.0
28 hypertrophic cardiomyopathy 21 11.0
29 calr3-related familial hypertrophic cardiomyopathy 11.0
30 atrial standstill, digenic 11.0 ACTN2 MYBPC3 TNNT2
31 ift27-related bardet-biedl syndrome 11.0 MYH7 MYLK2
32 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 11.0 ACTN2 CSRP3 MYH7
33 autoimmune thyroid disease 2 11.0 MYH7 MYPN TTN
34 mylk-related thoracic aortic aneurysms and aortic dissections 11.0 MYH7 TPM1
35 hyperpigmentation with or without hypopigmentation 11.0
36 syne1-related emery-dreifuss muscular dystrophy 11.0 MYBPC3 MYH7 TPM1
37 sdccag8-related bardet-biedl syndrome 11.0 MYH7 TPM1
38 nephronophthisis 20 11.0
39 nephronophthisis 16 11.0
40 sdha-related hereditary paraganglioma-pheochromocytoma syndrome 10.9 MYH7 TPM1
41 lyme disease 10.9 CAV3 MYH7 TTN
42 immunodeficiency 34, mycobacteriosis, x-linked 10.9 CAV3 TNNI3 TNNT2 TTN
43 myxozoa 10.9 MYH6 MYH7
44 jph2-related familial hypertrophic cardiomyopathy 10.9
45 peeling skin syndrome 2 10.9 CAV3 TCAP TTN
46 left ventricular noncompaction 10 10.9 MYBPC3 TTN
47 fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency 10.8
48 xanthogranulomatous pyelonephritis 10.8 ACTC1 MYBPC3 MYH6 MYH7 TNNI3 TNNT2
49 oesophagostomiasis 10.8 ACTC1 MYBPC3 MYH7 MYL3 MYPN TNNI3
50 adult respiratory distress syndrome 10.8 MYL3 TNNI3 TNNT2

Comorbidity relations with Cardiomyopathy, Familial Hypertrophic via Phenotypic Disease Network (PDN): (show all 16)


Active Peptic Ulcer Disease Acute Cystitis
Bronchitis Chronic Myocardial Ischemia
Deficiency Anemia Familial Atrial Fibrillation
First-Degree Atrioventricular Block Heart Disease
Hypertension, Essential Hypothyroidism
Intermediate Coronary Syndrome Ischemic Heart Disease
Left Ventricular Outflow Tract Obstruction Mitral Valve Disease
Respiratory Failure Sinoatrial Node Disease

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



Diseases related to Cardiomyopathy, Familial Hypertrophic

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic

Symptoms via clinical synopsis from OMIM:

54

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

Clinical features from OMIM:

192600

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic:

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

MGI Mouse Phenotypes related to Cardiomyopathy, Familial Hypertrophic:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.77 MYL2 MYOZ2 TCAP TNNI3 TNNT2 TTN
2 muscle MP:0005369 9.47 ACTC1 CAV3 CSRP3 JPH2 MYBPC3 MYH6

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic

Drugs for Cardiomyopathy, Familial Hypertrophic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Perhexiline Approved Phase 2 6621-47-2 4746
2 calcium channel blockers Phase 2
3 Calcium, Dietary Phase 2
4 Vasodilator Agents Phase 2
5 carnitine Nutraceutical Phase 2
6
Dipyridamole Approved 58-32-2 3108
7
Menthol Approved 2216-51-5 16666
8 Complement Factor I
9 Hormones
10 insulin
11 Insulin, Globin Zinc
12 Mitogens

Interventional clinical trials:

(show all 18)

id Name Status NCT ID Phase Drugs
1 Effect of Eleclazine (GS-6615) on Exercise Capacity in Subjects With Symptomatic Hypertrophic Cardiomyopathy Terminated NCT02291237 Phase 2, Phase 3 Eleclazine;Placebo
2 Open-Label Study of Perhexiline in Patients With Hypertrophic Cardiomyopathy and Moderate to Severe Heart Failure Terminated NCT02862600 Phase 2 Perhexiline
3 Study of Hypertrophic Cardiomyopathy Under Stress Conditions. Concordance Between Two Complementary Tests: Stress MRI and Exercice Stress Echocardiography Unknown status NCT02500420
4 Registry and Prevalence of Gene Mutation in Korean Patients With Familial Hypertrophic Cardiomyopathy Completed NCT01792960
5 Genetic Analysis of Familial Hypertrophic Cardiomyopathy Completed NCT00005251
6 Factors Contributing to Increased Left Ventricle Size in Patients With Abnormally Enlarged Hearts Completed NCT00001878
7 Signs and Symptoms of Genetic Abnormalities Linked to Inherited Heart Disease Completed NCT00001881
8 Family Studies of Inherited Heart Disease Completed NCT00001225
9 The Perceived Impact of Children s Risk Status for Hypertrophic Cardiomyopathy on Families: an Exploratory Study Completed NCT01160536
10 Signs and Symptoms Associated With Molecular Defects in Genetically Inherited Heart Disease Completed NCT00027196
11 Identification of Risk Factors for Arrhythmia in Children and Adolescents With Hypertrophic Cardiomyopathy Completed NCT00753233
12 New Diagnostic Strategy in Hypertrophic Cardiomyopathy Recruiting NCT02520856
13 French Hypertrophic Cardiomyopathy Observatory Recruiting NCT01091480
14 Predictive Factors and Consequences of Myocardial Fibrosis in Hypertrophic Cardiomyopathy Recruiting NCT02922517
15 Pediatric Cardiomyopathy Mutation Analysis Recruiting NCT02432092
16 Cardiac Biomarkers in Pediatric Cardiomyopathy (PCM Biomarkers) Active, not recruiting NCT01873976
17 Cardiac Involvement in Adult Patients With Fabry Disease; Relation to Enzyme Replacement Therapy Enrolling by invitation NCT02908724
18 Genomic Sequencing in Patients With HCM Undergoing Septal Myectomy Not yet recruiting NCT03043209

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic

Cochrane evidence based reviews: cardiomyopathy, hypertrophic

Genetic Tests for Cardiomyopathy, Familial Hypertrophic

Genetic tests related to Cardiomyopathy, Familial Hypertrophic:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 1 29
2 Hypertrophic Cardiomyopathy 29
3 Asymmetric Septal Hypertrophy 29
4 Familial Hypertrophic Cardiomyopathy 24 TTN

Anatomical Context for Cardiomyopathy, Familial Hypertrophic

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic:

39
Heart, Testes

Publications for Cardiomyopathy, Familial Hypertrophic

Variations for Cardiomyopathy, Familial Hypertrophic

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

71 (show top 50) (show all 174)
id 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:

6 (show top 50) (show all 159)
id Gene Variation Type Significance SNP ID Assembly Location
1 MYBPC3 NM_000256.3(MYBPC3) duplication Pathogenic/Likely pathogenic rs193922384 GRCh38 Chromosome 11, 47332127: 47332144
2 MYBPC3 NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909374 GRCh37 Chromosome 11, 47364129: 47364129
3 MYBPC3 NM_000256.3(MYBPC3): c.3330+2T> G single nucleotide variant Pathogenic/Likely pathogenic rs387906397 GRCh37 Chromosome 11, 47354743: 47354743
4 TNNI3 NM_000363.4(TNNI3): c.433C> T (p.Arg145Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894724 GRCh37 Chromosome 19, 55665514: 55665514
5 TPM1 NM_001018005.1(TPM1): c.523G> A (p.Asp175Asn) single nucleotide variant Pathogenic rs104894503 GRCh37 Chromosome 15, 63353098: 63353098
6 MYL3 NM_000258.2(MYL3): c.445A> G (p.Met149Val) single nucleotide variant Pathogenic rs104893748 GRCh37 Chromosome 3, 46901001: 46901001
7 MYH7 NM_000257.3(MYH7): c.1208G> A (p.Arg403Gln) single nucleotide variant Pathogenic rs121913624 GRCh37 Chromosome 14, 23898487: 23898487
8 MYH7 NM_000257.3(MYH7): c.746G> A (p.Arg249Gln) single nucleotide variant Pathogenic/Likely pathogenic rs3218713 GRCh37 Chromosome 14, 23900677: 23900677
9 MYH7 NM_000257.3(MYH7): c.1357C> T (p.Arg453Cys) single nucleotide variant Pathogenic rs121913625 GRCh37 Chromosome 14, 23898214: 23898214
10 MYH7 NM_000257.3(MYH7): c.1750G> C (p.Gly584Arg) single nucleotide variant Pathogenic rs121913626 GRCh37 Chromosome 14, 23896932: 23896932
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.2770G> A (p.Glu924Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913628 GRCh37 Chromosome 14, 23893268: 23893268
13 MYH7 NM_000257.3(MYH7): c.2167C> T (p.Arg723Cys) single nucleotide variant Pathogenic rs121913630 GRCh37 Chromosome 14, 23895023: 23895023
14 MYH7 nsv513807 deletion Pathogenic
15 MYH7 NM_000257.3(MYH7): c.2722C> G (p.Leu908Val) single nucleotide variant Pathogenic rs121913631 GRCh37 Chromosome 14, 23893316: 23893316
16 MYH7 NM_000257.3(MYH7): c.2221G> C (p.Gly741Arg) single nucleotide variant Pathogenic rs121913632 GRCh37 Chromosome 14, 23894969: 23894969
17 MYH7 NM_000257.3(MYH7): c.767G> A (p.Gly256Glu) single nucleotide variant Pathogenic rs121913633 GRCh37 Chromosome 14, 23900656: 23900656
18 MYH7 NM_000257.3(MYH7): c.1208G> T (p.Arg403Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913624 GRCh37 Chromosome 14, 23898487: 23898487
19 MYH7 NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh37 Chromosome 14, 23898488: 23898488
20 MYH7 NM_000257.3(MYH7): c.1538T> G (p.Phe513Cys) single nucleotide variant Pathogenic rs121913636 GRCh37 Chromosome 14, 23897749: 23897749
21 MYH7 NM_000257.3(MYH7): c.2155C> T (p.Arg719Trp) single nucleotide variant Pathogenic rs121913637 GRCh37 Chromosome 14, 23895180: 23895180
22 MYH7 NM_000257.3(MYH7): c.2146G> A (p.Gly716Arg) single nucleotide variant Pathogenic rs121913638 GRCh37 Chromosome 14, 23895189: 23895189
23 MYH7 NM_000257.3(MYH7): c.2803G> A (p.Glu935Lys) single nucleotide variant Pathogenic rs121913639 GRCh37 Chromosome 14, 23893235: 23893235
24 MYH7 NM_000257.3(MYH7): c.2156G> A (p.Arg719Gln) single nucleotide variant Pathogenic rs121913641 GRCh37 Chromosome 14, 23895179: 23895179
25 MYH7 NM_000257.3(MYH7): c.5134C> T (p.Arg1712Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121913650 GRCh37 Chromosome 14, 23884861: 23884861
26 MYH7 NM_000257.3(MYH7): c.1447G> A (p.Glu483Lys) single nucleotide variant Pathogenic rs121913651 GRCh37 Chromosome 14, 23897840: 23897840
27 MYH7 NM_000257.3(MYH7): c.2609G> A (p.Arg870His) single nucleotide variant Pathogenic rs36211715 GRCh37 Chromosome 14, 23894048: 23894048
28 MYH7 NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121913654 GRCh37 Chromosome 14, 23884385: 23884385
29 MYH7 NM_000257.3(MYH7): c.2717A> G (p.Asp906Gly) single nucleotide variant Pathogenic rs267606908 GRCh37 Chromosome 14, 23893321: 23893321
30 MYL3 NM_000258.2(MYL3): c.170C> G (p.Ala57Gly) single nucleotide variant Pathogenic rs139794067 GRCh37 Chromosome 3, 46902303: 46902303
31 MYBPC3 NM_000256.3(MYBPC3): c.2308G> A (p.Asp770Asn) single nucleotide variant Pathogenic/Likely pathogenic rs36211723 GRCh37 Chromosome 11, 47360071: 47360071
32 MYBPC3 NM_000256.3(MYBPC3): c.2374T> C (p.Trp792Arg) single nucleotide variant Pathogenic/Likely pathogenic rs187830361 GRCh37 Chromosome 11, 47359280: 47359280
33 MYH7 NM_000257.3(MYH7): c.5135G> A (p.Arg1712Gln) single nucleotide variant Likely pathogenic rs193922390 GRCh37 Chromosome 14, 23884860: 23884860
34 MYBPC3 NM_000256.3(MYBPC3): c.2827C> T (p.Arg943Ter) single nucleotide variant Pathogenic/Likely pathogenic rs387907267 GRCh37 Chromosome 11, 47356671: 47356671
35 MYBPC3 NM_000256.3(MYBPC3): c.1235_1236delTT (p.Phe412Terfs) deletion Pathogenic rs397515894 GRCh37 Chromosome 11, 47364687: 47364688
36 MYBPC3 NM_000256.3(MYBPC3): c.1483C> G (p.Arg495Gly) single nucleotide variant Pathogenic/Likely pathogenic rs397515905 GRCh37 Chromosome 11, 47364270: 47364270
37 MYBPC3 NM_000256.3(MYBPC3): c.1505G> A (p.Arg502Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397515907 GRCh37 Chromosome 11, 47364248: 47364248
38 MYBPC3 NM_000256.3(MYBPC3): c.1624+4A> T single nucleotide variant Pathogenic/Likely pathogenic rs397515916 GRCh37 Chromosome 11, 47364125: 47364125
39 MYBPC3 NM_000256.3(MYBPC3): c.177_187delAGAGGGCACAC (p.Glu60Alafs) deletion Pathogenic rs397515925 GRCh37 Chromosome 11, 47372895: 47372905
40 MYBPC3 NM_000256.3(MYBPC3): c.1928-2A> G single nucleotide variant Pathogenic rs397515937 GRCh37 Chromosome 11, 47361343: 47361343
41 MYBPC3 NM_000256.3(MYBPC3): c.2096delC (p.Pro699Glnfs) deletion Pathogenic rs397515947 GRCh37 Chromosome 11, 47360927: 47360927
42 MYBPC3 NM_000256.3(MYBPC3): c.2113dupA (p.Thr705Asnfs) duplication Pathogenic rs397515948 GRCh37 Chromosome 11, 47360910: 47360910
43 MYBPC3 NM_000256.3(MYBPC3): c.2308+1G> A single nucleotide variant Pathogenic rs112738974 GRCh37 Chromosome 11, 47360070: 47360070
44 MYBPC3 NM_000256.3(MYBPC3): c.2308+1G> T single nucleotide variant Pathogenic rs112738974 GRCh37 Chromosome 11, 47360070: 47360070
45 MYBPC3 NM_000256.3(MYBPC3): c.2309-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs111729952 GRCh37 Chromosome 11, 47359347: 47359347
46 MYBPC3 NM_000256.3(MYBPC3): c.2373dupG (p.Trp792Valfs) duplication Pathogenic rs397515963 GRCh37 Chromosome 11, 47359281: 47359281
47 MYBPC3 NM_000256.3(MYBPC3): c.2454G> A (p.Trp818Ter) single nucleotide variant Pathogenic rs397515965 GRCh37 Chromosome 11, 47359090: 47359090
48 MYBPC3 NM_000256.3(MYBPC3): c.2490dupT (p.His831Serfs) duplication Pathogenic/Likely pathogenic rs397515966 GRCh37 Chromosome 11, 47359054: 47359054
49 MYBPC3 NM_000256.3(MYBPC3): c.2524dupT (p.Tyr842Leufs) duplication Pathogenic rs397515970 GRCh37 Chromosome 11, 47359020: 47359020
50 MYBPC3 NM_000256.3(MYBPC3): c.2558delG (p.Gly853Alafs) deletion Pathogenic rs397515977 GRCh37 Chromosome 11, 47358986: 47358986

Expression for Cardiomyopathy, Familial Hypertrophic

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

Pathways for Cardiomyopathy, Familial Hypertrophic

Pathways related to Cardiomyopathy, Familial Hypertrophic according to KEGG:

37
id Name Kegg Source Accession
1 Hypertrophic cardiomyopathy (HCM) hsa05410

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

(show all 14)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.72 ACTC1 MYH6 MYH7 MYL2 MYL3 MYLK2
2
Show member pathways
12.71 ACTN2 MYH6 MYH7 MYL2 MYL3
3
Show member pathways
12.62 ACTN2 CAV3 MYBPC3 MYH6 MYL2 MYL3
4
Show member pathways
12.5 ACTC1 ACTN2 MYH6 MYH7 MYL2 MYL3
5 12.29 ACTC1 TNNI3 TNNT2 TPM1
6
Show member pathways
12.19 ACTN2 MYH6 MYH7 MYL2 MYL3 MYLK2
7
Show member pathways
12.16 MYH6 MYH7 MYL2 MYL3
8 11.87 MYL2 MYL3 MYLK2 PRKAG2
9 11.65 MYL3 TNNI3 TNNT2
10 11.45 ACTC1 MYH6 MYH7 MYL2 MYL3 TNNI3
11 11.44 ACTC1 MYH6 MYL2 TNNI3 TNNT2
12 11.43 MYH6 MYH7 PRKAG2
13 11.22 ACTC1 ACTN2 MYBPC3 MYH6 MYL2 MYL3
14 10.88 MYH7 MYL2

GO Terms for Cardiomyopathy, Familial Hypertrophic

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 sarcomere GO:0030017 9.83 ACTC1 ACTN2 CSRP3 MYBPC3 MYH6 MYH7
2 myosin complex GO:0016459 9.71 MYH6 MYH7 MYL2 MYL3
3 actin filament GO:0005884 9.69 ACTC1 ACTN2 TPM1
4 muscle myosin complex GO:0005859 9.67 MYH6 MYH7 MYL3 TTN
5 I band GO:0031674 9.65 ACTC1 MYL3 MYPN TCAP TTN
6 myosin filament GO:0032982 9.63 MYBPC3 MYH6 MYH7
7 myofibril GO:0030016 9.63 MYH6 MYH7 MYL2 TNNI3 TNNT2 TPM1
8 cardiac myofibril GO:0097512 9.62 MYBPC3 MYL2 TNNI3 TNNT2
9 A band GO:0031672 9.61 MYBPC3 MYL2 MYL3
10 troponin complex GO:0005861 9.49 TNNI3 TNNT2
11 cardiac Troponin complex GO:1990584 9.48 TNNI3 TNNT2
12 Z disc GO:0030018 9.32 ACTN2 CAV3 CSRP3 JPH2 MYBPC3 MYH7
13 cytoplasm GO:0005737 10.37 ACTC1 ACTN2 CAV3 CSRP3 MYH6 MYH7
14 cytosol GO:0005829 10.31 ACTC1 ACTN2 MYBPC3 MYH6 MYL2 MYL3

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

(show all 31)
id Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.97 ACTC1 CSRP3 MYBPC3 MYH6 MYH7 MYL2
2 muscle contraction GO:0006936 9.95 ACTN2 CAV3 MYH6 MYH7 TNNT2 TPM1
3 regulation of the force of heart contraction GO:0002026 9.85 CSRP3 MYH6 MYH7 MYL2 MYL3
4 positive regulation of ATPase activity GO:0032781 9.84 MYBPC3 MYL3 TNNT2 TPM1
5 actin filament organization GO:0007015 9.83 CAV3 MYBPC3 TPM1
6 regulation of heart contraction GO:0008016 9.83 CAV3 MYH6 TNNT2 TPM1
7 cardiac muscle tissue morphogenesis GO:0055008 9.8 ACTC1 MYLK2 TCAP TTN
8 striated muscle contraction GO:0006941 9.8 MYBPC3 MYH6 MYH7 MYLK2 TNNI3 TTN
9 sarcomere organization GO:0045214 9.8 ACTN2 MYBPC3 MYH6 MYPN TCAP TPM1
10 regulation of heart rate GO:0002027 9.79 CAV3 MYH6 MYH7
11 cardiac muscle fiber development GO:0048739 9.78 MYH6 MYPN TCAP TTN
12 skeletal muscle contraction GO:0003009 9.77 MYH7 TCAP TNNI3
13 cardiac myofibril assembly GO:0055003 9.77 ACTC1 CSRP3 MYL2 TCAP TTN
14 regulation of muscle contraction GO:0006937 9.76 TNNI3 TNNT2 TPM1
15 heart contraction GO:0060047 9.75 ACTC1 MYL2 TNNI3
16 adult heart development GO:0007512 9.74 MYH6 MYH7 TCAP
17 cardiac muscle hypertrophy GO:0003300 9.73 CSRP3 TCAP TTN
18 detection of muscle stretch GO:0035995 9.73 CAV3 CSRP3 TCAP TTN
19 muscle filament sliding GO:0030049 9.73 ACTC1 ACTN2 MYBPC3 MYH6 MYH7 MYL2
20 regulation of striated muscle contraction GO:0006942 9.72 MYBPC3 MYL2 MYL3
21 skeletal muscle thin filament assembly GO:0030240 9.69 ACTC1 TCAP TTN
22 cardiac muscle hypertrophy in response to stress GO:0014898 9.65 MYH7 TCAP
23 myofibril assembly GO:0030239 9.64 MYH6 MYOZ2
24 negative regulation of protein localization to cell surface GO:2000009 9.64 ACTN2 CAV3
25 negative regulation of ATPase activity GO:0032780 9.63 TNNI3 TNNT2
26 negative regulation of potassium ion transmembrane transporter activity GO:1901017 9.63 ACTN2 CAV3
27 cardiac muscle cell development GO:0055013 9.62 ACTN2 CAV3
28 skeletal muscle myosin thick filament assembly GO:0030241 9.61 TCAP TTN
29 sarcomerogenesis GO:0048769 9.61 TCAP TTN
30 regulation of muscle filament sliding GO:0032971 9.6 MYBPC3 MYLK2
31 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.23 MYBPC3 MYH6 MYH7 MYL2 MYL3 TNNI3

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

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.8 MYH6 MYH7 MYLK2 TTN
2 ion channel binding GO:0044325 9.75 ACTN2 CAV3 TCAP
3 motor activity GO:0003774 9.73 MYH6 MYH7 MYL3
4 cytoskeletal protein binding GO:0008092 9.69 ACTN2 MYPN TPM1
5 actin filament binding GO:0051015 9.63 ACTN2 MYBPC3 MYPN TNNI3 TPM1 TTN
6 actin binding GO:0003779 9.61 ACTN2 CSRP3 MYBPC3 MYH6 MYH7 MYOZ2
7 myosin binding GO:0017022 9.58 ACTC1 MYBPC3
8 muscle alpha-actinin binding GO:0051371 9.58 MYBPC3 MYPN TTN
9 microfilament motor activity GO:0000146 9.57 MYH6 MYH7
10 structural molecule activity conferring elasticity GO:0097493 9.55 MYBPC3 TTN
11 actin-dependent ATPase activity GO:0030898 9.54 MYH6 MYH7
12 titin binding GO:0031432 9.54 ACTN2 MYBPC3 TCAP
13 actinin binding GO:0042805 9.52 CSRP3 TTN
14 telethonin binding GO:0031433 9.5 CSRP3 MYOZ2 TTN
15 myosin heavy chain binding GO:0032036 9.48 MYBPC3 MYL2
16 troponin C binding GO:0030172 9.46 TNNI3 TNNT2
17 titin Z domain binding GO:0070080 9.43 ACTN2 TCAP
18 FATZ binding GO:0051373 9.43 ACTN2 MYOZ2 TCAP
19 structural constituent of muscle GO:0008307 9.23 ACTN2 CSRP3 MYBPC3 MYL2 MYL3 TCAP

Sources for Cardiomyopathy, Familial Hypertrophic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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