CMH4
MCID: CRD085
MIFTS: 51

Cardiomyopathy, Familial Hypertrophic, 4 (CMH4)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 4

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 4:

Name: Cardiomyopathy, Familial Hypertrophic, 4 57 12 13 70
Cmh4 57 12 72
Familial Hypertrophic Cardiomyopathy 4 29 6
Cardiomyopathy, Hypertrophic, 4 57 29
Hypertrophic Cardiomyopathy 4 12 15
Cardiomyopathy, Familial Hypertrophic, 4, Susceptibility to 6
Cardiomyopathy, Hypertrophic, Familial, Type 4 39
Cardiomyopathy, Familial Hypertrophic 4 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
autosomal dominant (incomplete penetrance)

Miscellaneous:
incomplete penetrance with heterozygous mutations
sudden death may occur, particularly during vigorous exercise
homozygotes are more severely affected, with death in the neonatal period
patients carrying the f305pfs*27 mutation are at higher risk of sudden death


HPO:

31
cardiomyopathy, familial hypertrophic, 4:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Cardiomyopathy, Familial Hypertrophic, 4

UniProtKB/Swiss-Prot : 72 Cardiomyopathy, familial hypertrophic 4: 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, 4, also known as cmh4, is related to atrial standstill 1 and cardiomyopathy, familial hypertrophic, 1. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 4 is MYBPC3 (Myosin Binding Protein C3), and among its related pathways/superpathways are ErbB4 Pathway and Cardiac conduction. Affiliated tissues include heart, and related phenotypes are hepatomegaly and myopathy

Disease Ontology : 12 A familial hypertrophic cardiomyopathy that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11.

More information from OMIM: 115197 PS192600

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 4

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
Rare Familial Disorder with Hypertrophic Cardiomyopathy

Diseases related to Cardiomyopathy, Familial Hypertrophic, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 atrial standstill 1 29.0 TTN TPM1 TNNT2 MYH7 MYBPC3 MYBPC1
2 cardiomyopathy, familial hypertrophic, 1 28.4 TTN TPM1 TNNT2 MYH9 MYH7 MYBPC3
3 hypertrophic cardiomyopathy 28.1 TTN TPM1 TNNT2 PRKD1 MYH7 MYBPC3
4 hemochromatosis, type 2b 10.2 MYBPC2 MYBPC1
5 lethal congenital contracture syndrome 4 10.2 MYBPC3 MYBPC2 MYBPC1
6 cardiomyopathy, familial hypertrophic, 6 10.2 RNF144B DUSP11
7 mitochondrial dna depletion syndrome 12b 10.2 TTN MYH7 MYBPC3
8 progressive familial heart block 10.1 TNNT2 MYH7 MYBPC3
9 cardioneuromyopathy with hyaline masses and nemaline rods 10.1 TTN DMD
10 reducing body myopathy 10.1 TTN DMD
11 noonan syndrome with multiple lentigines 10.1 TNNT2 MYH7 MYBPC3 BRAF
12 cardiomyopathy, dilated, 1dd 10.1 TTN TNNT2
13 muscular dystrophy, limb-girdle, autosomal recessive 7 10.1 TTN DMD
14 ventricular septal defect 10.0 RPS6KA3 MYH7 BRAF
15 autosomal dominant distal myopathy 10.0 TTN MYH7 DMD
16 cardiomyopathy, dilated, 1e 10.0 TTN TPM1 MYH7
17 ebstein anomaly 10.0 TPM1 TNNT2 MYH7 MYBPC3
18 mobitz type ii atrioventricular block 10.0 TNNT2 MYH7
19 mitral valve insufficiency 10.0 TTN TNNT2 MYH7 MYBPC3
20 barth syndrome 10.0 TTN TNNT2 MYH7 MYBPC3
21 wolff-parkinson-white syndrome 10.0 TTN TNNT2 MYH7 MYBPC3
22 tibial muscular dystrophy 10.0 TTN MYH7 DMD
23 cardiomyopathy, dilated, 1b 10.0 TTN TNNT2 MYH7 MYBPC3
24 catecholaminergic polymorphic ventricular tachycardia 10.0 TPM1 TNNT2 MYH7 MYBPC3
25 aortic valve disease 2 10.0 TTN TNNT2 MYH7 MYBPC3
26 batten-turner congenital myopathy 10.0 TTN MYH7 DMD
27 distal arthrogryposis 10.0 TTN MYBPC3 MYBPC2 MYBPC1
28 cardiac arrest 10.0 TTN TNNT2 MYH7 MYBPC3
29 rigid spine muscular dystrophy 1 10.0 TTN MYH7 DMD
30 muscular dystrophy, limb-girdle, autosomal recessive 6 10.0 TTN DMD
31 heart conduction disease 9.9 TTN TNNT2 MYH7 MYBPC3
32 miyoshi muscular dystrophy 9.9 TTN MYH7 DMD
33 congenital fiber-type disproportion 9.9 TTN MYH7 DMD
34 muscle tissue disease 9.9 TTN MYH7 DMD
35 rasopathy 9.9 TTN TNNT2 MYH7 MYBPC3 BRAF
36 myofibrillar myopathy 9.8 TTN MYH7 DMD
37 atrial heart septal defect 9.8 TTN TNNT2 MYH7 DMD
38 muscular disease 9.8 TTN MYH7 DMD
39 long qt syndrome 9.8 TTN MYH7 MYBPC3 DMD
40 autosomal recessive limb-girdle muscular dystrophy type 2a 9.7 TTN DMD
41 dyskeratosis congenita, autosomal dominant 3 9.7 RPS6KA3 RPS6KA2 RPS6KA1
42 coffin-lowry syndrome 9.6 RPS6KA3 RPS6KA2 RPS6KA1
43 intrinsic cardiomyopathy 9.5 TTN TPM1 TNNT2 MYH7 MYBPC3 DMD
44 restrictive cardiomyopathy 9.5 TTN TPM1 TNNT2 MYH7 MYBPC3 DMD
45 brugada syndrome 9.5 TTN TPM1 TNNT2 MYH7 MYBPC3 DMD
46 myopathy 9.4 TTN TPM1 TNNT2 MYH7 MYBPC3 MYBPC1
47 left ventricular noncompaction 9.3 TTN TPM1 TNNT2 MYH7 MYBPC3 MYBPC2
48 dilated cardiomyopathy 9.2 TTN TPM1 TNNT2 MYH7 MYBPC3 MYBPC2

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 4:



Diseases related to Cardiomyopathy, Familial Hypertrophic, 4

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 4

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 4:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 31 HP:0002240
2 myopathy 31 HP:0003198
3 cardiomegaly 31 HP:0001640
4 ascites 31 HP:0001541
5 hypertrophic cardiomyopathy 31 HP:0001639
6 atrioventricular block 31 HP:0001678
7 dyspnea 31 HP:0002094
8 transient ischemic attack 31 HP:0002326
9 chest pain 31 HP:0100749
10 syncope 31 HP:0001279
11 right bundle branch block 31 HP:0011712
12 pericardial effusion 31 HP:0001698
13 cardiac arrest 31 HP:0001695
14 pulmonary edema 31 HP:0100598
15 left bundle branch block 31 HP:0011713
16 ventricular hypertrophy 31 HP:0001714
17 ventricular fibrillation 31 HP:0001663
18 ventricular septal hypertrophy 31 HP:0005144

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Liver:
hepatomegaly

Abdomen:
ascites

Cardiovascular Vascular:
transient ischemic attack
stroke
syncope

Cardiovascular Heart:
cardiomegaly
hypertrophic cardiomyopathy
chest pain
right bundle branch block
pericardial effusion
more
Respiratory Lung:
dyspnea
pulmonary edema

Muscle Soft Tissue:
myopathic changes (seen in homozygous patient)
numerous small fibers (seen in homozygous patient)
disorganization of sarcomeres on electron microscopy (seen in homozygous patient)
partial depletion of thick filaments (seen in homozygous patient)

Clinical features from OMIM®:

115197 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 4 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.02 BRAF PRKD1 RPS6KA2 RPS6KA3 TTN
2 Decreased cell migration GR00055-A-1 8.96 RPS6KA1
3 Decreased cell migration GR00055-A-3 8.96 BRAF

MGI Mouse Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.97 BRAF DMD MYBPC2 MYBPC3 MYH7 MYH9
2 muscle MP:0005369 9.65 BRAF DMD MYBPC3 MYH7 NCF1 PRKD1
3 vision/eye MP:0005391 9.28 BRAF DMD DUSP11 MYBPC2 MYH9 NCF1

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 4

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 4

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 4

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 4:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 4 29 MYBPC3
2 Cardiomyopathy, Hypertrophic, 4 29

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 4

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 4:

40
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 4

Articles related to Cardiomyopathy, Familial Hypertrophic, 4:

(show top 50) (show all 119)
# Title Authors PMID Year
1
Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. 61 57 6
7493025 1995
2
Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. 57 6 61
7493026 1995
3
A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life. 6 57
25740977 2015
4
Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy. 6 57
23840593 2013
5
Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C. 57 6
19858127 2010
6
A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia. 6 57
19151713 2009
7
Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene. 57 6
18957093 2008
8
Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations. 57 6
18337725 2008
9
Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy. 6 57
17937428 2007
10
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. 57 6
17655857 2007
11
Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene. 57 6
16679492 2006
12
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 6 57
16199542 2005
13
Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy. 57 6
12788380 2003
14
Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy. 6 57
10424815 1999
15
Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. 6 57
9562578 1998
16
[Demonstration of a fifth locus implicated in familial hypertrophic cardiomyopathies]. 57 6
7786104 1994
17
The COX8 gene is not the disease gene of the CMH4 locus in familial hypertrophic cardiomyopathy. 57 61
7473670 1995
18
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 6
27532257 2017
19
Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting. 6
27650965 2016
20
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort. 6
27483260 2016
21
Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes. 6
25856671 2015
22
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 6
25611685 2015
23
Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects. 6
25335496 2015
24
Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing. 6
26090888 2015
25
An Investigation of the Molecular Mechanism of Double cMyBP-C Mutation in a Patient with End-Stage Hypertrophic Cardiomyopathy. 6
25971843 2015
26
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
27
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 6
25637381 2015
28
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 6
25524337 2014
29
Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization. 6
25210889 2014
30
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. 6
25031304 2014
31
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 6
24793961 2014
32
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. 6
24510615 2014
33
Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing. 6
25342278 2014
34
A systematic approach to assessing the clinical significance of genetic variants. 6
24033266 2013
35
Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. 6
24093860 2013
36
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. 6
23299917 2013
37
E258K HCM-causing mutation in cardiac MyBP-C reduces contractile force and accelerates twitch kinetics by disrupting the cMyBP-C and myosin S2 interaction. 6
23980194 2013
38
Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy. 6
23711808 2013
39
Interpreting secondary cardiac disease variants in an exome cohort. 6
23861362 2013
40
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 6
23283745 2013
41
Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families. 6
23054336 2013
42
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 6
23396983 2013
43
Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy. 6
23782526 2013
44
Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy. 6
22765922 2012
45
How do MYBPC3 mutations cause hypertrophic cardiomyopathy? 6
22057632 2012
46
Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome. 6
22267749 2012
47
A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death. 6
22907696 2012
48
Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors. 6
21839045 2012
49
Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy. 6
21302287 2011
50
Mortality risk of untreated myosin-binding protein C-related hypertrophic cardiomyopathy: insight into the natural history. 6
22115648 2011

Variations for Cardiomyopathy, Familial Hypertrophic, 4

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 4:

6 (show top 50) (show all 298)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYBPC3 NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) SNV Pathogenic 30143 rs371401403 GRCh37: 11:47357547-47357547
GRCh38: 11:47335996-47335996
2 MYBPC3 NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) SNV Pathogenic 37039 rs387907267 GRCh37: 11:47356671-47356671
GRCh38: 11:47335120-47335120
3 MYBPC3 NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) SNV Pathogenic 42536 rs200625851 GRCh37: 11:47364285-47364285
GRCh38: 11:47342734-47342734
4 MYBPC3 NM_000256.3(MYBPC3):c.1469G>T (p.Gly490Val) SNV Pathogenic 64617 rs397514752 GRCh37: 11:47364284-47364284
GRCh38: 11:47342733-47342733
5 MYBPC3 NM_000256.3(MYBPC3):c.676_701dup (p.Gly235fs) Duplication Pathogenic 188532 rs786204329 GRCh37: 11:47370045-47370046
GRCh38: 11:47348494-47348495
6 MYBPC3 NM_000256.3(MYBPC3):c.332_335dup (p.Glu112delinsAspTer) Duplication Pathogenic 254154 rs886037901 GRCh37: 11:47372123-47372124
GRCh38: 11:47350572-47350573
7 NCF1 , LOC106029312 NM_000265.6(NCF1):c.*179G>A SNV Pathogenic 375467 rs1057519503 GRCh37: 7:74203683-74203683
GRCh38: 7:74789339-74789339
8 MYBPC3 NM_000256.3(MYBPC3):c.3324_3325del (p.Lys1108fs) Deletion Pathogenic 397542 rs1060499673 GRCh37: 11:47354750-47354751
GRCh38: 11:47333199-47333200
9 BRAF NM_001374258.1(BRAF):c.2248-4_2249del Deletion Pathogenic 430737 rs1131692058 GRCh37: 7:140434570-140434575
GRCh38: 7:140734769-140734774
10 MYBPC3 NM_000256.3(MYBPC3):c.3559del (p.Leu1187fs) Deletion Pathogenic 437416 rs1555120300 GRCh37: 11:47354185-47354185
GRCh38: 11:47332634-47332634
11 MYBPC3 NM_000256.3(MYBPC3):c.2149-2del Deletion Pathogenic 437425 rs1555121488 GRCh37: 11:47360232-47360232
GRCh38: 11:47338681-47338681
12 MYBPC3 NM_000256.3(MYBPC3):c.927-9G>A SNV Pathogenic 42807 rs397516083 GRCh37: 11:47367930-47367930
GRCh38: 11:47346379-47346379
13 MYBPC3 NM_000256.3(MYBPC3):c.3330+5G>C SNV Pathogenic 42706 rs373746463 GRCh37: 11:47354740-47354740
GRCh38: 11:47333189-47333189
14 MYBPC3 NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) SNV Pathogenic 42744 rs397516042 GRCh37: 11:47353626-47353626
GRCh38: 11:47332075-47332075
15 MYBPC3 NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) SNV Pathogenic 36604 rs36211723 GRCh37: 11:47360071-47360071
GRCh38: 11:47338520-47338520
16 MYBPC3 NM_000256.3(MYBPC3):c.1800del (p.Lys600fs) Deletion Pathogenic 42568 rs397515926 GRCh37: 11:47362786-47362786
GRCh38: 11:47341235-47341235
17 MYBPC3 NM_000256.3(MYBPC3):c.1458-6G>A SNV Pathogenic 42533 rs375347534 GRCh37: 11:47364301-47364301
GRCh38: 11:47342750-47342750
18 MYBPC3 NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs) Deletion Pathogenic 164021 rs727503166 GRCh37: 11:47353661-47353661
GRCh38: 11:47332110-47332110
19 MYBPC3 NM_000256.3(MYBPC3):c.481C>T (p.Pro161Ser) SNV Pathogenic 518242 rs397516053 GRCh37: 11:47371589-47371589
GRCh38: 11:47350038-47350038
20 MYBPC3 NM_000256.3(MYBPC3):c.654+1G>A SNV Pathogenic 440947 rs730880621 GRCh37: 11:47371324-47371324
GRCh38: 11:47349773-47349773
21 MYBPC3 NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) SNV Pathogenic 195850 rs775404728 GRCh37: 11:47359086-47359086
GRCh38: 11:47337535-47337535
22 MYBPC3 NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) SNV Pathogenic 36615 rs193922386 GRCh37: 11:47367916-47367916
GRCh38: 11:47346365-47346365
23 MYBPC3 NM_000256.3(MYBPC3):c.551dup (p.Lys185fs) Duplication Pathogenic 42771 rs397516059 GRCh37: 11:47371427-47371428
GRCh38: 11:47349876-47349877
24 MYBPC3 NM_000256.3(MYBPC3):c.906-1G>C SNV Pathogenic 8619 rs587776700 GRCh37: 11:47368581-47368581
GRCh38: 11:47347030-47347030
25 MYBPC3 NM_000256.3(MYBPC3):c.1224-19G>A SNV Pathogenic 138326 rs587776699 GRCh37: 11:47364832-47364832
GRCh38: 11:47343281-47343281
26 MYBPC3 NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) SNV Pathogenic 8617 rs2856655 GRCh37: 11:47359085-47359085
GRCh38: 11:47337534-47337534
27 MYBPC3 NM_000256.3(MYBPC3):c.175A>G (p.Thr59Ala) SNV Pathogenic 8614 rs121909375 GRCh37: 11:47372907-47372907
GRCh38: 11:47351356-47351356
28 MYBPC3 NM_000256.3(MYBPC3):c.3659_3662delinsTTCAAGAATGGC (p.Asp1220fs) Indel Pathogenic 8612 rs886041031 GRCh37: 11:47353775-47353778
GRCh38: 11:47332224-47332227
29 MYBPC3 NM_000256.3(MYBPC3):c.2534_2538del (p.Arg845fs) Deletion Pathogenic 42635 rs397515973 GRCh37: 11:47359006-47359010
GRCh38: 11:47337455-47337459
30 MYBPC3 NM_000256.3(MYBPC3):c.2309-26A>G SNV Pathogenic 8610 rs886041030 GRCh37: 11:47359371-47359371
GRCh38: 11:47337820-47337820
31 MYBPC3 NM_000256.3(MYBPC3):c.2308+1G>A SNV Pathogenic 42610 rs112738974 GRCh37: 11:47360070-47360070
GRCh38: 11:47338519-47338519
32 MYBPC3 NM_000256.3(MYBPC3):c.3490+1G>A SNV Pathogenic 42715 rs397516020 GRCh37: 11:47354364-47354364
GRCh38: 11:47332813-47332813
33 MYBPC3 NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met) SNV Pathogenic 8604 rs121909378 GRCh37: 11:47354482-47354482
GRCh38: 11:47332931-47332931
34 MYBPC3 NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) Duplication Pathogenic 8603 rs193922384 GRCh37: 11:47353677-47353678
GRCh38: 11:47332126-47332127
35 MYBPC3 NM_000256.3(MYBPC3):c.3330+5G>A SNV Pathogenic 8602 rs373746463 GRCh37: 11:47354740-47354740
GRCh38: 11:47333189-47333189
36 MYBPC3 NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) SNV Pathogenic 42669 rs397515992 GRCh37: 11:47356593-47356593
GRCh38: 11:47335042-47335042
37 MYBPC3 NM_000256.3(MYBPC3):c.927-2A>G SNV Pathogenic 42806 rs397516082 GRCh37: 11:47367923-47367923
GRCh38: 11:47346372-47346372
38 MYBPC3 NM_000256.3(MYBPC3):c.884del (p.Phe295fs) Deletion Pathogenic 181112 rs730880684 GRCh37: 11:47368998-47368998
GRCh38: 11:47347447-47347447
39 MYBPC3 NM_000256.3(MYBPC3):c.1458-1G>C SNV Pathogenic 522220 rs397515903 GRCh37: 11:47364296-47364296
GRCh38: 11:47342745-47342745
40 MYBPC3 NM_000256.3(MYBPC3):c.897del (p.Lys301fs) Deletion Pathogenic 522221 rs1555122928 GRCh37: 11:47368985-47368985
GRCh38: 11:47347434-47347434
41 MYBPC3 NM_000256.3(MYBPC3):c.3404_3406ACT[1] (p.Tyr1136del) Microsatellite Pathogenic 181102 rs730880674 GRCh37: 11:47354446-47354448
GRCh38: 11:47332895-47332897
42 MYBPC3 NM_000256.3(MYBPC3):c.3190+5G>A SNV Pathogenic 155808 rs587782958 GRCh37: 11:47355103-47355103
GRCh38: 11:47333552-47333552
43 MYBPC3 NM_000256.3(MYBPC3):c.1000G>T (p.Glu334Ter) SNV Pathogenic 177850 rs573916965 GRCh37: 11:47367848-47367848
GRCh38: 11:47346297-47346297
44 MYBPC3 NM_000256.3(MYBPC3):c.927-9G>A SNV Pathogenic 42807 rs397516083 GRCh37: 11:47367930-47367930
GRCh38: 11:47346379-47346379
45 MYBPC3 NM_000256.3(MYBPC3):c.3190+5G>A SNV Pathogenic 155808 rs587782958 GRCh37: 11:47355103-47355103
GRCh38: 11:47333552-47333552
46 MYBPC3 NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) SNV Pathogenic 164078 rs727503188 GRCh37: 11:47359095-47359095
GRCh38: 11:47337544-47337544
47 MYBPC3 NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) SNV Pathogenic 164113 rs200411226 GRCh37: 11:47364269-47364269
GRCh38: 11:47342718-47342718
48 MYBPC3 NM_000256.3(MYBPC3):c.2149-1G>T SNV Pathogenic 522435 rs727504334 GRCh37: 11:47360231-47360231
GRCh38: 11:47338680-47338680
49 MYBPC3 NM_000256.3(MYBPC3):c.26-2A>G SNV Pathogenic 42644 rs376395543 GRCh37: 11:47373058-47373058
GRCh38: 11:47351507-47351507
50 MYBPC3 NM_000256.3(MYBPC3):c.1351+2T>C SNV Pathogenic 42525 rs397515897 GRCh37: 11:47364570-47364570
GRCh38: 11:47343019-47343019

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 4:

72 (show top 50) (show all 59)
# Symbol AA change Variation ID SNP ID
1 MYBPC3 p.Glu542Gln VAR_003917 rs121909374
2 MYBPC3 p.Asn755Lys VAR_003919 rs106050147
3 MYBPC3 p.His257Pro VAR_019889 rs890299857
4 MYBPC3 p.Glu258Lys VAR_019890 rs397516074
5 MYBPC3 p.Leu352Pro VAR_019894 rs146089580
6 MYBPC3 p.Arg502Trp VAR_019895 rs375882485
7 MYBPC3 p.Lys811Arg VAR_019897 rs133870726
8 MYBPC3 p.Ala1194Thr VAR_019900 rs397516026
9 MYBPC3 p.Ala1255Thr VAR_019901 rs727503167
10 MYBPC3 p.Gln998Glu VAR_020574 rs11570112
11 MYBPC3 p.Glu451Gln VAR_027879 rs786204338
12 MYBPC3 p.Arg495Gln VAR_027880 rs200411226
13 MYBPC3 p.Arg502Gln VAR_027881 rs397515907
14 MYBPC3 p.Gly5Arg VAR_029390 rs201278114
15 MYBPC3 p.Thr59Ala VAR_029391 rs121909375
16 MYBPC3 p.Pro161Ser VAR_029392 rs397516053
17 MYBPC3 p.Val219Leu VAR_029393 rs397516068
18 MYBPC3 p.Asp228Asn VAR_029394 rs369300885
19 MYBPC3 p.Tyr237Ser VAR_029395 rs397516070
20 MYBPC3 p.Val256Ile VAR_029396 rs144408777
21 MYBPC3 p.Arg282Trp VAR_029397 rs727504234
22 MYBPC3 p.Arg458His VAR_029399 rs374255707
23 MYBPC3 p.Gly490Arg VAR_029400 rs200625851
24 MYBPC3 p.Gly507Arg VAR_029401 rs35736435
25 MYBPC3 p.Gly523Trp VAR_029402 rs116860484
26 MYBPC3 p.Cys566Arg VAR_029404 rs730880695
27 MYBPC3 p.Asp604Val VAR_029405 rs117214559
28 MYBPC3 p.Pro608Leu VAR_029407 rs778623429
29 MYBPC3 p.Arg668His VAR_029408 rs727503191
30 MYBPC3 p.Arg668Pro VAR_029409 rs727503191
31 MYBPC3 p.Asp770Asn VAR_029411 rs36211723
32 MYBPC3 p.Trp792Arg VAR_029412 rs187830361
33 MYBPC3 p.Arg810His VAR_029413 rs375675796
34 MYBPC3 p.Arg820Gln VAR_029416 rs2856655
35 MYBPC3 p.Ala833Thr VAR_029417 rs199865688
36 MYBPC3 p.Arg834Thr VAR_029418
37 MYBPC3 p.Pro873His VAR_029420 rs371401403
38 MYBPC3 p.Asn948Thr VAR_029421 rs121909376
39 MYBPC3 p.Gln998Arg VAR_029422 rs727503177
40 MYBPC3 p.Arg1002Gln VAR_029423 rs727504235
41 MYBPC3 p.Pro1003Gln VAR_029425
42 MYBPC3 p.Phe1113Ile VAR_029426 rs139355911
43 MYBPC3 p.Val1115Ile VAR_029427 rs531189495
44 MYBPC3 p.Gly263Arg VAR_042740 rs373730381
45 MYBPC3 p.Ala417Ser VAR_042742
46 MYBPC3 p.Leu669His VAR_042743
47 MYBPC3 p.Glu759Asp VAR_042744 rs765629179
48 MYBPC3 p.Arg495Gly VAR_045929 rs397515905
49 MYBPC3 p.Thr1028Ser VAR_045930 rs397516002
50 MYBPC3 p.Ile336Val VAR_070450

Expression for Cardiomyopathy, Familial Hypertrophic, 4

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 4.

Pathways for Cardiomyopathy, Familial Hypertrophic, 4

Pathways related to Cardiomyopathy, Familial Hypertrophic, 4 according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.67 RPS6KA3 RPS6KA2 RPS6KA1 PRKD1 BRAF
2
Show member pathways
12.43 TTN TPM1 TNNT2 MYBPC3 MYBPC2 MYBPC1
3
Show member pathways
12.36 RPS6KA3 RPS6KA2 RPS6KA1 BRAF
4
Show member pathways
12.26 RPS6KA3 RPS6KA2 RPS6KA1 PRKD1
5
Show member pathways
12.22 RPS6KA3 RPS6KA2 RPS6KA1 BRAF
6
Show member pathways
12.1 RPS6KA3 RPS6KA2 RPS6KA1 BRAF
7 12.04 RPS6KA3 RPS6KA2 RPS6KA1 BRAF
8
Show member pathways
12.02 RPS6KA3 RPS6KA2 RPS6KA1 BRAF
9
Show member pathways
12 RPS6KA3 RPS6KA2 RPS6KA1 BRAF
10
Show member pathways
11.89 RPS6KA3 RPS6KA2 RPS6KA1 PRKD1
11
Show member pathways
11.88 RPS6KA3 RPS6KA2 RPS6KA1
12
Show member pathways
11.83 RPS6KA3 RPS6KA2 RPS6KA1 BRAF
13
Show member pathways
11.82 RPS6KA3 RPS6KA2 RPS6KA1
14
Show member pathways
11.8 RPS6KA3 RPS6KA2 RPS6KA1 BRAF
15
Show member pathways
11.75 RPS6KA3 RPS6KA2 RPS6KA1
16 11.72 RPS6KA3 RPS6KA2 RPS6KA1 BRAF
17
Show member pathways
11.7 TTN TPM1 TNNT2 MYH7 MYBPC3 DMD
18
Show member pathways
11.66 RPS6KA3 RPS6KA2 RPS6KA1 BRAF
19
Show member pathways
11.64 RPS6KA3 RPS6KA2 RPS6KA1
20 11.5 TPM1 TNNT2 MYH7 COX8A
21 11.25 RPS6KA3 RPS6KA2 RPS6KA1
22 11.02 TTN TPM1 TNNT2 MYBPC3 MYBPC2 MYBPC1

GO Terms for Cardiomyopathy, Familial Hypertrophic, 4

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.03 TTN TPM1 TNNT2 RPS6KA3 RPS6KA2 RPS6KA1
2 Z disc GO:0030018 9.61 TTN MYH7 DMD
3 sarcomere GO:0030017 9.56 TPM1 TNNT2 MYH7 MYBPC3
4 stress fiber GO:0001725 9.54 TPM1 MYH9 MYH7
5 striated muscle thin filament GO:0005865 9.4 TTN TNNT2
6 cardiac myofibril GO:0097512 9.32 TNNT2 MYBPC3
7 myofibril GO:0030016 9.26 TNNT2 MYH7 MYBPC1 DMD
8 myosin filament GO:0032982 8.92 MYH7 MYBPC3 MYBPC2 MYBPC1

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 4 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.95 RPS6KA3 RPS6KA1 RNF144B PRKD1 NCF1
2 phosphorylation GO:0016310 9.95 TTN RPS6KA3 RPS6KA2 RPS6KA1 PRKD1 BRAF
3 intracellular signal transduction GO:0035556 9.91 RPS6KA3 RPS6KA2 RPS6KA1 PRKD1 BRAF
4 protein phosphorylation GO:0006468 9.91 TTN RPS6KA3 RPS6KA2 RPS6KA1 PRKD1 BRAF
5 peptidyl-serine phosphorylation GO:0018105 9.76 RPS6KA3 RPS6KA2 RPS6KA1 PRKD1
6 muscle contraction GO:0006936 9.63 TTN TPM1 TNNT2 MYH7 MYBPC2 MYBPC1
7 positive regulation of ATPase activity GO:0032781 9.58 TPM1 TNNT2 MYBPC3
8 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.56 TPM1 TNNT2 MYH7 MYBPC3
9 regulation of muscle contraction GO:0006937 9.54 TPM1 TNNT2
10 sarcomere organization GO:0045214 9.54 TTN TPM1 TNNT2
11 striated muscle contraction GO:0006941 9.52 TTN MYH7
12 regulation of DNA-templated transcription in response to stress GO:0043620 9.49 RPS6KA3 RPS6KA1
13 cardiac muscle contraction GO:0060048 9.43 TTN TPM1 TNNT2 MYH7 MYBPC3 DMD
14 regulation of translation in response to stress GO:0043555 9.32 RPS6KA3 RPS6KA1
15 muscle filament sliding GO:0030049 9.23 TTN TPM1 TNNT2 MYH7 MYBPC3 MYBPC2

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 4 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10.08 TTN RPS6KA3 RPS6KA2 RPS6KA1 PRKD1 MYH9
2 identical protein binding GO:0042802 10.05 TTN TPM1 TNNT2 PRKD1 MYH9 MYBPC3
3 ATP binding GO:0005524 10.03 TTN RPS6KA3 RPS6KA2 RPS6KA1 PRKD1 MYH9
4 kinase activity GO:0016301 9.93 TTN RPS6KA3 RPS6KA2 RPS6KA1 PRKD1 BRAF
5 protein kinase activity GO:0004672 9.88 TTN RPS6KA3 RPS6KA2 RPS6KA1 PRKD1 BRAF
6 protein serine/threonine kinase activity GO:0004674 9.73 TTN RPS6KA3 RPS6KA2 RPS6KA1 PRKD1 BRAF
7 actin filament binding GO:0051015 9.72 TTN TPM1 MYH9 MYH7 DMD
8 actin binding GO:0003779 9.56 TPM1 TNNT2 MYH9 MYH7 MYBPC3 MYBPC2
9 myosin binding GO:0017022 9.54 MYBPC3 MYBPC1 DMD
10 cysteine-type endopeptidase inhibitor activity involved in apoptotic process GO:0043027 9.52 RPS6KA3 RPS6KA1
11 titin binding GO:0031432 9.49 MYBPC3 MYBPC1
12 ribosomal protein S6 kinase activity GO:0004711 9.33 RPS6KA3 RPS6KA2 RPS6KA1
13 structural constituent of muscle GO:0008307 9.1 TTN TPM1 MYBPC3 MYBPC2 MYBPC1 DMD

Sources for Cardiomyopathy, Familial Hypertrophic, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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