CMH4
MCID: CRD085
MIFTS: 49

Cardiomyopathy, Familial Hypertrophic, 4 (CMH4)

Categories: Blood diseases, Cancer diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 4

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 4:

Name: Cardiomyopathy, Familial Hypertrophic, 4 57 11 12 71
Hypertrophic Cardiomyopathy 4 11 28 5 14
Cmh4 57 11 73
Cardiomyopathy, Familial Hypertrophic, 4, Susceptibility to 5
Cardiomyopathy, Hypertrophic, Familial, Type 4 38
Cardiomyopathy, Familial Hypertrophic 4 73
Cardiomyopathy, Hypertrophic, 4 57

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:



Summaries for Cardiomyopathy, Familial Hypertrophic, 4

UniProtKB/Swiss-Prot: 73 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 hypertrophic cardiomyopathy 4, is related to cardiomyopathy, familial hypertrophic, 1 and hypertrophic cardiomyopathy. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 4 is MYBPC3 (Myosin Binding Protein C3), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include heart, kidney and heart-ventricle, and related phenotypes are sudden cardiac death and cardiomegaly

Disease Ontology: 11 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 Cardiomyopathy, Familial Hypertrophic, 28
Rare Hypertrophic Cardiomyopathy Rare Familial Disorder with Hypertrophic Cardiomyopathy

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

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic, 1 28.3 TTN TPM1 PRKAG2 MYH7 MYBPC3 MYBPC2
2 hypertrophic cardiomyopathy 27.5 TTN TPM1 PRKAG2 MYH7 MYBPC3 MYBPC2
3 cardiac conduction defect 10.2 MYH7 MYBPC3
4 granulomatous disease, chronic, autosomal recessive, 1 10.2 NCF1 LOC106029312
5 granulomatous disease, chronic, autosomal recessive, 3 10.2 NCF1 LOC106029312
6 endomyocardial fibrosis 10.2 MYH7 MYBPC3
7 childhood astrocytic tumor 10.2 BRAF AKAP9
8 constrictive pericarditis 10.2 TTN MYBPC3
9 alcoholic cardiomyopathy 10.2 TTN MYH7
10 noonan syndrome with multiple lentigines 10.2 MYH7 MYBPC3 BRAF
11 left bundle branch hemiblock 10.2 TTN MYBPC3
12 diastolic heart failure 10.2 TTN MYBPC3
13 hyaline body myopathy 10.1 TTN MYH7
14 endocardial fibroelastosis 10.1 MYH7 ACTN2
15 long qt syndrome 10 10.1 ANK2 AKAP9
16 long qt syndrome 12 10.1 ANK2 AKAP9
17 danon disease 10.1 PRKAG2 MYH7 MYBPC3
18 myopathy, myofibrillar, 4 10.1 TTN ACTN2
19 newborn respiratory distress syndrome 10.1 TTN BRAF
20 long qt syndrome 11 10.1 ANK2 AKAP9
21 cardiomyopathy, dilated, 1b 10.1 TTN MYH7 MYBPC3
22 peripartum cardiomyopathy 10.1 TTN MYH7 MYBPC3
23 systolic heart failure 10.1 TTN MYH7 MYBPC3
24 tricuspid valve disease 10.1 TTN MYH7 MYBPC3
25 myopathy, distal, 1 10.1 TTN MYH7 MYBPC3
26 long qt syndrome 13 10.1 ANK2 AKAP9
27 mitral valve insufficiency 10.1 TTN MYH7 MYBPC3
28 mitral valve disease 10.1 TTN MYH7 MYBPC3
29 myopathy, spheroid body 10.1 TTN ACTN2
30 congenital structural myopathy 10.1 TTN MYH7
31 cardiomyopathy, familial hypertrophic, 25 10.1 TPM1 MYBPC3
32 long qt syndrome 5 10.1 ANK2 AKAP9
33 barth syndrome 10.1 TTN MYH7 MYBPC3
34 heart valve disease 10.1 TTN MYH7 MYBPC3
35 patent ductus arteriosus 1 10.1 TTN MYH7 MYBPC3
36 aortic valve disease 2 10.1 TTN MYH7 MYBPC3
37 myopathy, myofibrillar, 9, with early respiratory failure 10.1 TTN MYH7
38 atrial heart septal defect 10.1 TTN MYH7 MYBPC3
39 patent foramen ovale 10.1 TTN MYH7 MYBPC3
40 tibial muscular dystrophy 10.1 TTN MYH7
41 long qt syndrome 9 10.0 ANK2 AKAP9
42 congestive heart failure 10.0 TTN MYH7 MYBPC3
43 long qt syndrome 2 10.0 MYBPC3 ANK2 AKAP9
44 atrial standstill 1 10.0 PRKAG2 MYH7 MYBPC3 MYBPC1
45 long qt syndrome 3 10.0 ANK2 AKAP9
46 noonan syndrome 1 10.0 PRKAG2 MYH7 MYBPC3 BRAF
47 mitochondrial trifunctional protein deficiency 10.0
48 timothy syndrome 9.9 ANK2 AKAP9
49 myofibrillar myopathy 9.9 TTN MYH7 MYBPC3 ACTN2
50 lethal congenital contracture syndrome 2 9.9 MYBPC2 MYBPC1

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:

30 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sudden cardiac death 30 Very rare (1%) HP:0001645
2 cardiomegaly 30 Very rare (1%) HP:0001640
3 congestive heart failure 30 Very rare (1%) HP:0001635
4 ascites 30 Very rare (1%) HP:0001541
5 hypertrophic cardiomyopathy 30 Very rare (1%) HP:0001639
6 stroke 30 Very rare (1%) HP:0001297
7 syncope 30 Very rare (1%) HP:0001279
8 respiratory distress 30 Very rare (1%) HP:0002098
9 first degree atrioventricular block 30 Very rare (1%) HP:0011705
10 pulmonary edema 30 Very rare (1%) HP:0100598
11 ventricular hypertrophy 30 Very rare (1%) HP:0001714
12 ventricular septal hypertrophy 30 Very rare (1%) HP:0005144
13 muscular ventricular septal defect 30 Very rare (1%) HP:0011623
14 right atrial enlargement 30 Very rare (1%) HP:0030718
15 reduced left ventricular ejection fraction 30 Very rare (1%) HP:0012664
16 myofiber disarray 30 Very rare (1%) HP:0031318
17 hepatomegaly 30 HP:0002240
18 myopathy 30 HP:0003198
19 atrioventricular block 30 HP:0001678
20 dyspnea 30 HP:0002094
21 transient ischemic attack 30 HP:0002326
22 chest pain 30 HP:0100749
23 right bundle branch block 30 HP:0011712
24 pericardial effusion 30 HP:0001698
25 cardiac arrest 30 HP:0001695
26 left bundle branch block 30 HP:0011713
27 ventricular fibrillation 30 HP:0001663

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.1 ACTN2 AKAP9 BRAF MYBPC1 MYBPC3 NCF1

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.81 ANK2 BRAF LAMA4 MYBPC1 MYBPC3 MYH7
2 growth/size/body region MP:0005378 9.7 AKAP9 ANK2 BRAF LAMA4 MYBPC1 MYBPC2
3 cardiovascular system MP:0005385 9.32 ANK2 BRAF LAMA4 MYBPC2 MYBPC3 MYH7

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 Hypertrophic Cardiomyopathy 4 28 MYBPC3

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 4

Organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 4:

MalaCards : Heart, Kidney
ODiseA: Heart-Ventricle, Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 4

Articles related to Cardiomyopathy, Familial Hypertrophic, 4:

(show top 50) (show all 132)
# Title Authors PMID Year
1
Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. 62 57 5
7493026 1995
2
Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. 62 57 5
7493025 1995
3
A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life. 57 5
25740977 2015
4
Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy. 57 5
23840593 2013
5
Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C. 57 5
19858127 2010
6
A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia. 57 5
19151713 2009
7
Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene. 57 5
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 5
18337725 2008
9
Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy. 57 5
17937428 2007
10
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. 57 5
17655857 2007
11
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 57 5
16199542 2005
12
Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy. 57 5
12788380 2003
13
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. 57 5
10424815 1999
14
Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. 57 5
9562578 1998
15
[Demonstration of a fifth locus implicated in familial hypertrophic cardiomyopathies]. 57 5
7786104 1994
16
The COX8 gene is not the disease gene of the CMH4 locus in familial hypertrophic cardiomyopathy. 62 57
7473670 1995
17
Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management. 5
35535697 2022
18
New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy. 5
34460321 2021
19
Differential contributions of sarcomere and mitochondria-related multigene variants to the endophenotype of hypertrophic cardiomyopathy. 5
32380161 2020
20
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 5
27532257 2017
21
Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting. 5
27650965 2016
22
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort. 5
27483260 2016
23
Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes. 5
25856671 2015
24
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 5
25611685 2015
25
Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects. 5
25335496 2015
26
Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing. 5
26090888 2015
27
An Investigation of the Molecular Mechanism of Double cMyBP-C Mutation in a Patient with End-Stage Hypertrophic Cardiomyopathy. 5
25971843 2015
28
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. 5
25741868 2015
29
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 5
25637381 2015
30
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 5
25524337 2014
31
Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization. 5
25210889 2014
32
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. 5
25031304 2014
33
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 5
24793961 2014
34
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. 5
24510615 2014
35
Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing. 5
25342278 2014
36
A systematic approach to assessing the clinical significance of genetic variants. 5
24033266 2013
37
Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. 5
24093860 2013
38
E258K HCM-causing mutation in cardiac MyBP-C reduces contractile force and accelerates twitch kinetics by disrupting the cMyBP-C and myosin S2 interaction. 5
23980194 2013
39
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. 5
23299917 2013
40
Interpreting secondary cardiac disease variants in an exome cohort. 5
23861362 2013
41
Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy. 5
23711808 2013
42
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 5
23283745 2013
43
Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families. 5
23054336 2013
44
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 5
23396983 2013
45
Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy. 5
23782526 2013
46
Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population. 5
22857948 2012
47
Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy. 5
22765922 2012
48
How do MYBPC3 mutations cause hypertrophic cardiomyopathy? 5
22057632 2012
49
Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome. 5
22267749 2012
50
A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death. 5
22907696 2012

Variations for Cardiomyopathy, Familial Hypertrophic, 4

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

5 (show top 50) (show all 335)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYBPC3 NM_000256.3(MYBPC3):c.2308+1G>A SNV Pathogenic
42610 rs112738974 GRCh37: 11:47360070-47360070
GRCh38: 11:47338519-47338519
2 MYBPC3 NM_000256.3(MYBPC3):c.2309-26A>G SNV Pathogenic
8610 rs886041030 GRCh37: 11:47359371-47359371
GRCh38: 11:47337820-47337820
3 MYBPC3 NM_000256.3(MYBPC3):c.2534_2538del (p.Arg845fs) DEL Pathogenic
42635 rs397515973 GRCh37: 11:47359006-47359010
GRCh38: 11:47337455-47337459
4 MYBPC3 NM_000256.3(MYBPC3):c.3659_3662delinsTTCAAGAATGGC (p.Asp1220fs) INDEL Pathogenic
8612 rs886041031 GRCh37: 11:47353775-47353778
GRCh38: 11:47332224-47332227
5 MYBPC3 NM_000256.3(MYBPC3):c.175A>G (p.Thr59Ala) SNV Pathogenic
8614 rs121909375 GRCh37: 11:47372907-47372907
GRCh38: 11:47351356-47351356
6 MYBPC3 NM_000256.3(MYBPC3):c.1224-19G>A SNV Pathogenic
138326 rs587776699 GRCh37: 11:47364832-47364832
GRCh38: 11:47343281-47343281
7 MYBPC3 NM_000256.3(MYBPC3):c.906-1G>C SNV Pathogenic
8619 rs587776700 GRCh37: 11:47368581-47368581
GRCh38: 11:47347030-47347030
8 BRAF NM_004333.6(BRAF):c.2128-4_2129del DEL Pathogenic
430737 rs1131692058 GRCh37: 7:140434570-140434575
GRCh38: 7:140734769-140734774
9 MYBPC3 NM_000256.3(MYBPC3):c.3490+1G>A SNV Pathogenic
42715 rs397516020 GRCh37: 11:47354364-47354364
GRCh38: 11:47332813-47332813
10 MYBPC3 NM_000256.3(MYBPC3):c.1469G>T (p.Gly490Val) SNV Pathogenic
64617 rs397514752 GRCh37: 11:47364284-47364284
GRCh38: 11:47342733-47342733
11 MYBPC3 NM_000256.3(MYBPC3):c.332_335dup (p.Glu112delinsAspTer) DUP Pathogenic
254154 rs886037901 GRCh37: 11:47372123-47372124
GRCh38: 11:47350572-47350573
12 MYBPC3 NM_000256.3(MYBPC3):c.3559del (p.Leu1187fs) DEL Pathogenic
437416 rs1555120300 GRCh37: 11:47354185-47354185
GRCh38: 11:47332634-47332634
13 MYBPC3 NM_000256.3(MYBPC3):c.2149-2del DEL Pathogenic
437425 rs1555121488 GRCh37: 11:47360232-47360232
GRCh38: 11:47338681-47338681
14 MYBPC3 NM_000256.3(MYBPC3):c.927-9G>A SNV Pathogenic
Pathogenic
42807 rs397516083 GRCh37: 11:47367930-47367930
GRCh38: 11:47346379-47346379
15 MYBPC3 NM_000256.3(MYBPC3):c.1458-6G>A SNV Pathogenic
42533 rs375347534 GRCh37: 11:47364301-47364301
GRCh38: 11:47342750-47342750
16 MYBPC3 NM_000256.3(MYBPC3):c.654+1G>A SNV Pathogenic
440947 rs730880621 GRCh37: 11:47371324-47371324
GRCh38: 11:47349773-47349773
17 MYBPC3 NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) SNV Pathogenic
42669 rs397515992 GRCh37: 11:47356593-47356593
GRCh38: 11:47335042-47335042
18 MYBPC3 NM_000256.3(MYBPC3):c.1351+1G>A SNV Pathogenic
164119 rs727503204 GRCh37: 11:47364571-47364571
GRCh38: 11:47343020-47343020
19 MYBPC3 NM_000256.3(MYBPC3):c.1458-1G>C SNV Pathogenic
522220 rs397515903 GRCh37: 11:47364296-47364296
GRCh38: 11:47342745-47342745
20 MYBPC3 NM_000256.3(MYBPC3):c.1000G>T (p.Glu334Ter) SNV Pathogenic
177850 rs573916965 GRCh37: 11:47367848-47367848
GRCh38: 11:47346297-47346297
21 MYBPC3 NM_000256.3(MYBPC3):c.2149-1G>T SNV Pathogenic
522435 rs727504334 GRCh37: 11:47360231-47360231
GRCh38: 11:47338680-47338680
22 MYBPC3 NM_000256.3(MYBPC3):c.1351+2T>C SNV Pathogenic
42525 rs397515897 GRCh37: 11:47364570-47364570
GRCh38: 11:47343019-47343019
23 MYBPC3 NM_000256.3(MYBPC3):c.1367del (p.Ile456fs) DEL Pathogenic
637963 rs1595846398 GRCh37: 11:47364471-47364471
GRCh38: 11:47342920-47342920
24 MYBPC3 NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) SNV Pathogenic
164078 rs727503188 GRCh37: 11:47359095-47359095
GRCh38: 11:47337544-47337544
25 MYBPC3 NM_000256.3(MYBPC3):c.3324_3325del (p.Lys1108fs) DEL Pathogenic
397542 rs1060499673 GRCh37: 11:47354750-47354751
GRCh38: 11:47333199-47333200
26 MYBPC3 NM_000256.3(MYBPC3):c.676_701dup (p.Gly235fs) DUP Pathogenic
188532 rs786204329 GRCh37: 11:47370045-47370046
GRCh38: 11:47348494-47348495
27 MYBPC3 NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) DUP Pathogenic
42619 rs397515963 GRCh37: 11:47359281-47359281
GRCh38: 11:47337729-47337730
28 MYBPC3 NM_000256.3(MYBPC3):c.1678del (p.Asp560fs) DEL Pathogenic
177864 rs727504366 GRCh37: 11:47363654-47363654
GRCh38: 11:47342103-47342103
29 MYBPC3 NM_000256.3(MYBPC3):c.3628-41_3628-17del DEL Pathogenic
177677 rs36212066 GRCh37: 11:47353826-47353850
GRCh38: 11:47332275-47332299
30 MYH7 NM_000257.4(MYH7):c.5769del (p.Ser1924fs) DEL Pathogenic
960135 rs1892066954 GRCh37: 14:23882989-23882989
GRCh38: 14:23413780-23413780
31 MYBPC3 NM_000256.3(MYBPC3):c.3766del (p.Thr1256fs) DEL Pathogenic
986353 rs2095877685 GRCh37: 11:47353671-47353671
GRCh38: 11:47332120-47332120
32 MYBPC3 NM_000256.3(MYBPC3):c.2833_2834del (p.Arg945fs) DEL Pathogenic
42660 rs397515987 GRCh37: 11:47356664-47356665
GRCh38: 11:47335113-47335114
33 MYBPC3 NM_000256.3(MYBPC3):c.3735del (p.Phe1246fs) DEL Pathogenic
42737 rs397516038 GRCh37: 11:47353702-47353702
GRCh38: 11:47332151-47332151
34 MYBPC3 NM_000256.3(MYBPC3):c.3313_3314insGG (p.Ala1105fs) INSERT Pathogenic
1333262 GRCh37: 11:47354761-47354762
GRCh38: 11:47333210-47333211
35 MYBPC3 NM_000256.3(MYBPC3):c.1303C>T (p.Gln435Ter) SNV Pathogenic
488797 rs1432810664 GRCh37: 11:47364620-47364620
GRCh38: 11:47343069-47343069
36 MYBPC3 NM_000256.3(MYBPC3):c.2164G>T (p.Glu722Ter) SNV Pathogenic
1074339 GRCh37: 11:47360215-47360215
GRCh38: 11:47338664-47338664
37 MYBPC3 NM_000256.3(MYBPC3):c.1645C>T (p.Gln549Ter) SNV Pathogenic
1687205 GRCh37: 11:47363687-47363687
GRCh38: 11:47342136-47342136
38 MYBPC3 NM_000256.3(MYBPC3):c.237C>G (p.Tyr79Ter) SNV Pathogenic
181132 rs730880698 GRCh37: 11:47372845-47372845
GRCh38: 11:47351294-47351294
39 MYBPC3 NM_000256.3(MYBPC3):c.3799del (p.Arg1267fs) DEL Pathogenic
651464 rs1595840648 GRCh37: 11:47353638-47353638
GRCh38: 11:47332087-47332087
40 MYBPC3 NM_000256.3(MYBPC3):c.3805G>T (p.Glu1269Ter) SNV Pathogenic
1705335 GRCh37: 11:47353632-47353632
GRCh38: 11:47332081-47332081
41 MYBPC3 NM_000256.3(MYBPC3):c.506-1G>A SNV Pathogenic
525018 rs397516056 GRCh37: 11:47371474-47371474
GRCh38: 11:47349923-47349923
42 MYBPC3 NM_000256.3(MYBPC3):c.3330+5G>A SNV Pathogenic
8602 rs373746463 GRCh37: 11:47354740-47354740
GRCh38: 11:47333189-47333189
43 MYBPC3 NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) DUP Pathogenic
8603 rs193922384 GRCh37: 11:47353677-47353678
GRCh38: 11:47332126-47332127
44 MYBPC3 NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met) SNV Pathogenic
8604 rs121909378 GRCh37: 11:47354482-47354482
GRCh38: 11:47332931-47332931
45 MYBPC3 NM_000256.3(MYBPC3):c.1928-2A>G SNV Pathogenic
Pathogenic
42585 rs397515937 GRCh37: 11:47361343-47361343
GRCh38: 11:47339792-47339792
46 MYBPC3 NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) SNV Pathogenic
Pathogenic
8608 rs121909374 GRCh37: 11:47364129-47364129
GRCh38: 11:47342578-47342578
47 MYBPC3 NM_000256.3(MYBPC3):c.2234A>G (p.Asp745Gly) SNV Pathogenic
30142 rs727503190 GRCh37: 11:47360145-47360145
GRCh38: 11:47338594-47338594
48 MYBPC3 NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) SNV Pathogenic
30143 rs371401403 GRCh37: 11:47357547-47357547
GRCh38: 11:47335996-47335996
49 MYBPC3 NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) SNV Pathogenic
37039 rs387907267 GRCh37: 11:47356671-47356671
GRCh38: 11:47335120-47335120
50 MYBPC3 NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) SNV Pathogenic
42536 rs200625851 GRCh37: 11:47364285-47364285
GRCh38: 11:47342734-47342734

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

73 (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 rs1060501474
3 MYBPC3 p.His257Pro VAR_019889 rs890299857
4 MYBPC3 p.Glu258Lys VAR_019890 rs397516074
5 MYBPC3 p.Leu352Pro VAR_019894 rs1460895809
6 MYBPC3 p.Arg502Trp VAR_019895 rs375882485
7 MYBPC3 p.Lys811Arg VAR_019897 rs1338707268
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 rs1444087775
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 rs1168604846
26 MYBPC3 p.Cys566Arg VAR_029404 rs730880695
27 MYBPC3 p.Asp604Val VAR_029405 rs1172145591
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 rs1393559112
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

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 Z disc GO:0030018 9.76 TTN MYH7 ANK2 ACTN2
2 A band GO:0031672 9.56 MYBPC3 ANK2
3 sarcomere GO:0030017 9.5 TPM1 MYH7 MYBPC3 ACTN2
4 myosin filament GO:0032982 9.17 MYH7 MYBPC3 MYBPC2 MYBPC1

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

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.91 TTN TPM1 MYH7
2 striated muscle contraction GO:0006941 9.76 TTN MYH7
3 cardiac muscle contraction GO:0060048 9.76 TTN TPM1 MYH7 MYBPC3
4 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.73 MYBPC3 MYH7 TPM1
5 muscle filament sliding GO:0030049 9.71 TPM1 MYH7
6 positive regulation of cation channel activity GO:2001259 9.67 ANK2 ACTN2
7 positive regulation of potassium ion transport GO:0043268 9.62 ANK2 ACTN2
8 sarcomere organization GO:0045214 9.56 TTN TPM1 MYH7 ACTN2
9 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.1 ANK2 AKAP9 ACTN2

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.86 TTN TPM1 MYH7 ACTN2
2 actin binding GO:0003779 9.85 TPM1 MYH7 MYBPC3 MYBPC2 MYBPC1 ACTN2
3 titin binding GO:0031432 9.43 MYBPC3 MYBPC1 ACTN2
4 structural constituent of muscle GO:0008307 9.4 TTN TPM1 MYBPC3 MYBPC2 MYBPC1 ACTN2

Sources for Cardiomyopathy, Familial Hypertrophic, 4

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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