MCID: CRD203
MIFTS: 40

Cardiomyopathy, Hypertrophic, 4

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Hypertrophic, 4

MalaCards integrated aliases for Cardiomyopathy, Hypertrophic, 4:

Name: Cardiomyopathy, Hypertrophic, 4 54
Cardiomyopathy, Familial Hypertrophic, 4 12 13 69
Hypertrophic Cardiomyopathy 4 12 14
Cmh4 12 71
Cardiomyopathy, Familial Hypertrophic 4 71
Familial Hypertrophic Cardiomyopathy 4 29

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant (11p13-q13)
other forms at loci on chromosomes 1, 14, 15 and at least one other locus


HPO:

32
cardiomyopathy, hypertrophic, 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 115197
Disease Ontology 12 DOID:0110310
MeSH 42 D024741

Summaries for Cardiomyopathy, Hypertrophic, 4

UniProtKB/Swiss-Prot : 71 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, Hypertrophic, 4, also known as cardiomyopathy, familial hypertrophic, 4, is related to hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation and chicken egg allergy, and has symptoms including hypertrophic cardiomyopathy An important gene associated with Cardiomyopathy, Hypertrophic, 4 is MYBPC3 (Myosin Binding Protein C, Cardiac), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. The drugs Spironolactone and Ranolazine have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotype is muscle.

Disease Ontology : 12 A 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.

Description from OMIM: 115197

Related Diseases for Cardiomyopathy, Hypertrophic, 4

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, Hypertrophic, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 10.0 MYBPC3 TTN
2 chicken egg allergy 10.0 MYBPC3 TTN
3 oesophagostomiasis 9.9 MYBPC3 TTN
4 cardiomyopathy 9.9
5 autoimmune disease of skin and connective tissue 9.5 MYBPC2 MYBPC3 TTN
6 familial atrial fibrillation 9.4 MYBPC1 MYBPC2
7 long qt syndrome 9 9.0 MYBPC1 MYBPC2 MYBPC3 TTN
8 ectodermal dysplasia 8.9 MYBPC1 MYBPC2 MYBPC3 TTN
9 left ventricular noncompaction 10 7.3 BRAF COX8A MYBPC1 MYBPC2 MYBPC3 NCF1

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



Diseases related to Cardiomyopathy, Hypertrophic, 4

Symptoms & Phenotypes for Cardiomyopathy, Hypertrophic, 4

Symptoms via clinical synopsis from OMIM:

54

Cardiac:
hypertrophic cardiomyopathy


Clinical features from OMIM:

115197

Human phenotypes related to Cardiomyopathy, Hypertrophic, 4:

32
id Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 32 HP:0001639

MGI Mouse Phenotypes related to Cardiomyopathy, Hypertrophic, 4:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 BRAF MYBPC3 NCF1 TTN

Drugs & Therapeutics for Cardiomyopathy, Hypertrophic, 4

Drugs for Cardiomyopathy, Hypertrophic, 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
2
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
3
Adenosine Approved, Investigational Phase 4 58-61-7 60961
4
Regadenoson Approved Phase 4 313348-27-5 219024
5
Dobutamine Approved Phase 4 34368-04-2 36811
6 diuretics Phase 4
7 Diuretics, Potassium Sparing Phase 4
8 Hormone Antagonists Phase 4
9 Hormones Phase 4
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
11 Mineralocorticoid Receptor Antagonists Phase 4
12 Mineralocorticoids Phase 4
13 Natriuretic Agents Phase 4
14 Sodium Channel Blockers Phase 4
15 Analgesics Phase 4
16 Anti-Arrhythmia Agents Phase 4
17 Neurotransmitter Agents Phase 4
18 Peripheral Nervous System Agents Phase 4
19 Vasodilator Agents Phase 4,Phase 3
20 Adrenergic Agents Phase 4
21 Adrenergic Agonists Phase 4
22 Adrenergic beta-Agonists Phase 4
23 Autonomic Agents Phase 4
24 Protective Agents Phase 4
25 carnitine Nutraceutical Phase 4
26
Menthol Approved 2216-51-5 16666
27 Cardiac Glycosides
28 Tin Fluorides

Interventional clinical trials:

(show all 18)

id Name Status NCT ID Phase Drugs
1 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy Unknown status NCT00879060 Phase 4 spironolactone
2 Identification of Carnitine-Responsive Cardiomyopathy Unknown status NCT01904396 Phase 4 Carnitine
3 Ranolazine for the Treatment of Chest Pain in HCM Patients Completed NCT01721967 Phase 4 Ranolazine
4 Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve Recruiting NCT03249272 Phase 4 Regadenoson;Adenosine
5 Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy Not yet recruiting NCT02948998 Phase 4 Spironolactone
6 The Effects of Dobutamine on Postoperative Cardiac Function in Aortic Valve Replacement Suspended NCT01375335 Phase 4 Dobutamine
7 Efficacy, Safety, and Tolerability of Perhexiline in Subjects With Hypertrophic Cardiomyopathy and Heart Failure Withdrawn NCT02431221 Phase 3 Perhexiline;Placebo
8 Study of Exercise Training in Hypertrophic Cardiomyopathy Completed NCT01127061
9 Registry and Prevalence of Gene Mutation in Korean Patients With Familial Hypertrophic Cardiomyopathy Completed NCT01792960
10 Long-Term Results of DDD Pacing in Obstructive Hypertrophic Cardiomyopathy Completed NCT00001530
11 The Role of Heart Stiff and Weak Atrium on Exercise Capacity in Patients With Hypertrophic Cardiomyopathy Completed NCT00074880
12 Neurohormonal Parameters in Hypertrophic Cardiomyopathies Completed NCT01729702
13 Extended Ambulatory Monitoring Improves Risk Stratification in Hypertrophic Cardiomyopathy Recruiting NCT03182153
14 Comparisonof Extended Myoectomy and Myoectomy by Morrow in Patients With Hypertrophic Obstructive Cardiomyopathy (HOCM) Recruiting NCT02492399
15 Fabry's Disease and Pregnancy (PREFAB) Recruiting NCT02582294
16 Stress Echo 2020 - The International Stress Echo Study Recruiting NCT03049995
17 Natural History in Fabry Patients With IVS4+919G>A Mutation Not yet recruiting NCT03222336
18 Cardiac Rehabilitation in Patients With HCM Without LV Outflow Tract Obstruction With Preserved EF - Pilot Study Not yet recruiting NCT03178357

Search NIH Clinical Center for Cardiomyopathy, Hypertrophic, 4

Genetic Tests for Cardiomyopathy, Hypertrophic, 4

Genetic tests related to Cardiomyopathy, Hypertrophic, 4:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 4 29

Anatomical Context for Cardiomyopathy, Hypertrophic, 4

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

39
Heart

Publications for Cardiomyopathy, Hypertrophic, 4

Variations for Cardiomyopathy, Hypertrophic, 4

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

71 (show top 50) (show all 66)
id Symbol AA change Variation ID SNP ID
1 MYBPC3 p.Glu542Gln VAR_003917 rs121909374
2 MYBPC3 p.Arg654His VAR_003918 rs1800565
3 MYBPC3 p.Asn755Lys VAR_003919
4 MYBPC3 p.His257Pro VAR_019889
5 MYBPC3 p.Glu258Lys VAR_019890 rs397516074
6 MYBPC3 p.Gly278Glu VAR_019891 rs147315081
7 MYBPC3 p.Gly279Ala VAR_019892 rs375774648
8 MYBPC3 p.Leu352Pro VAR_019894
9 MYBPC3 p.Arg502Trp VAR_019895 rs375882485
10 MYBPC3 p.Lys811Arg VAR_019897
11 MYBPC3 p.Ala833Val VAR_019898 rs3729952
12 MYBPC3 p.Ala1194Thr VAR_019900 rs397516026
13 MYBPC3 p.Ala1255Thr VAR_019901 rs727503167
14 MYBPC3 p.Gln998Glu VAR_020574 rs11570112
15 MYBPC3 p.Glu451Gln VAR_027879
16 MYBPC3 p.Arg495Gln VAR_027880 rs200411226
17 MYBPC3 p.Arg502Gln VAR_027881 rs397515907
18 MYBPC3 p.Gly5Arg VAR_029390 rs201278114
19 MYBPC3 p.Thr59Ala VAR_029391 rs121909375
20 MYBPC3 p.Pro161Ser VAR_029392
21 MYBPC3 p.Val219Leu VAR_029393 rs397516068
22 MYBPC3 p.Asp228Asn VAR_029394 rs369300885
23 MYBPC3 p.Tyr237Ser VAR_029395 rs397516070
24 MYBPC3 p.Val256Ile VAR_029396
25 MYBPC3 p.Arg282Trp VAR_029397 rs727504234
26 MYBPC3 p.Arg458His VAR_029399 rs374255707
27 MYBPC3 p.Gly490Arg VAR_029400 rs200625851
28 MYBPC3 p.Gly507Arg VAR_029401 rs35736435
29 MYBPC3 p.Gly523Trp VAR_029402
30 MYBPC3 p.Cys566Arg VAR_029404 rs730880695
31 MYBPC3 p.Asp604Val VAR_029405
32 MYBPC3 p.Pro608Leu VAR_029407
33 MYBPC3 p.Arg668His VAR_029408 rs727503191
34 MYBPC3 p.Arg668Pro VAR_029409
35 MYBPC3 p.Arg733Cys VAR_029410 rs397515956
36 MYBPC3 p.Asp770Asn VAR_029411 rs36211723
37 MYBPC3 p.Trp792Arg VAR_029412 rs187830361
38 MYBPC3 p.Arg810His VAR_029413 rs375675796
39 MYBPC3 p.Arg820Gln VAR_029416 rs2856655
40 MYBPC3 p.Ala833Thr VAR_029417 rs199865688
41 MYBPC3 p.Arg834Thr VAR_029418
42 MYBPC3 p.Pro873His VAR_029420 rs371401403
43 MYBPC3 p.Asn948Thr VAR_029421 rs121909376
44 MYBPC3 p.Gln998Arg VAR_029422 rs727503177
45 MYBPC3 p.Arg1002Gln VAR_029423 rs727504235
46 MYBPC3 p.Pro1003Gln VAR_029425
47 MYBPC3 p.Phe1113Ile VAR_029426
48 MYBPC3 p.Val1115Ile VAR_029427 rs531189495
49 MYBPC3 p.Gly263Arg VAR_042740 rs373730381
50 MYBPC3 p.Arg273His VAR_042741 rs376461745

ClinVar genetic disease variations for Cardiomyopathy, Hypertrophic, 4:

6 (show top 50) (show all 54)
id Gene Variation Type Significance SNP ID Assembly Location
1 MYBPC3 NM_000256.3(MYBPC3): c.3330+5G> A single nucleotide variant Pathogenic rs373746463 GRCh37 Chromosome 11, 47354740: 47354740
2 MYBPC3 NM_000256.3(MYBPC3) duplication Pathogenic/Likely pathogenic rs193922384 GRCh38 Chromosome 11, 47332127: 47332144
3 MYBPC3 NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909374 GRCh37 Chromosome 11, 47364129: 47364129
4 MYBPC3 NM_000256.3(MYBPC3): c.2309-26A> G single nucleotide variant Pathogenic rs886041030 GRCh37 Chromosome 11, 47359371: 47359371
5 MYBPC3 NM_000256.3(MYBPC3): c.3659_3662delACCTinsTTCAAGAATGGC (p.Asp1220Valfs) indel Pathogenic rs886041031 GRCh37 Chromosome 11, 47353775: 47353778
6 MYBPC3 NM_000256.3(MYBPC3): c.175A> G (p.Thr59Ala) single nucleotide variant Pathogenic rs121909375 GRCh37 Chromosome 11, 47372907: 47372907
7 MYBPC3 NM_000256.3(MYBPC3): c.3286G> T (p.Glu1096Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909377 GRCh37 Chromosome 11, 47354789: 47354789
8 MYBPC3 NM_000256.3(MYBPC3): c.906-1G> C single nucleotide variant Pathogenic rs587776700 GRCh38 Chromosome 11, 47347030: 47347030
9 MYBPC3 NM_000256.3(MYBPC3): c.3330+2T> G single nucleotide variant Pathogenic/Likely pathogenic rs387906397 GRCh37 Chromosome 11, 47354743: 47354743
10 MYBPC3 NM_000256.3(MYBPC3): c.2308G> A (p.Asp770Asn) single nucleotide variant Pathogenic/Likely pathogenic rs36211723 GRCh37 Chromosome 11, 47360071: 47360071
11 MYBPC3 NM_000256.3(MYBPC3): c.2827C> T (p.Arg943Ter) single nucleotide variant Pathogenic/Likely pathogenic rs387907267 GRCh37 Chromosome 11, 47356671: 47356671
12 MYBPC3 NM_000256.3(MYBPC3): c.1505G> A (p.Arg502Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397515907 GRCh37 Chromosome 11, 47364248: 47364248
13 MYBPC3 NM_000256.3(MYBPC3): c.1928-2A> G single nucleotide variant Pathogenic rs397515937 GRCh37 Chromosome 11, 47361343: 47361343
14 MYBPC3 NM_000256.3(MYBPC3): c.2308+1G> A single nucleotide variant Pathogenic rs112738974 GRCh37 Chromosome 11, 47360070: 47360070
15 MYBPC3 NM_000256.3(MYBPC3): c.2373dupG (p.Trp792Valfs) duplication Pathogenic rs397515963 GRCh37 Chromosome 11, 47359281: 47359281
16 MYBPC3 NM_000256.3(MYBPC3): c.2534_2538delGCGTC (p.Arg845Leufs) deletion Pathogenic rs397515973 GRCh37 Chromosome 11, 47359006: 47359010
17 MYBPC3 NM_000256.3(MYBPC3): c.2541C> G (p.Tyr847Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397515974 GRCh37 Chromosome 11, 47359003: 47359003
18 MYBPC3 NM_000256.3(MYBPC3): c.2864_2865delCT (p.Pro955Argfs) deletion Pathogenic/Likely pathogenic rs397515990 GRCh37 Chromosome 11, 47356633: 47356634
19 MYBPC3 NM_000256.3(MYBPC3): c.3490+1G> A single nucleotide variant Pathogenic rs397516020 GRCh37 Chromosome 11, 47354364: 47354364
20 MYBPC3 NM_000256.3(MYBPC3): c.3624dupC (p.Lys1209Glnfs) duplication Pathogenic/Likely pathogenic rs397516029 GRCh37 Chromosome 11, 47354120: 47354120
21 MYBPC3 NM_000256.3(MYBPC3): c.3697C> T (p.Gln1233Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516037 GRCh37 Chromosome 11, 47353740: 47353740
22 MYBPC3 NM_000256.3(MYBPC3): c.551dupT (p.Lys185Glufs) duplication Pathogenic/Likely pathogenic rs397516059 GRCh37 Chromosome 11, 47371428: 47371428
23 MYBPC3 NM_000256.3(MYBPC3): c.772G> A (p.Glu258Lys) single nucleotide variant Pathogenic/Likely pathogenic rs397516074 GRCh37 Chromosome 11, 47369975: 47369975
24 MYBPC3 NM_000256.3(MYBPC3): c.821+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs397516077 GRCh37 Chromosome 11, 47369403: 47369403
25 MYBPC3 NM_000256.3(MYBPC3): c.913_914delTT (p.Phe305Profs) deletion Pathogenic/Likely pathogenic rs397516080 GRCh37 Chromosome 11, 47368190: 47368191
26 MYBPC3 NM_000256.3(MYBPC3): c.1469G> T (p.Gly490Val) single nucleotide variant Pathogenic rs397514752 GRCh37 Chromosome 11, 47364284: 47364284
27 MYBPC3 NM_000256.3(MYBPC3): c.3642G> A (p.Trp1214Ter) single nucleotide variant Pathogenic/Likely pathogenic rs368765949 GRCh37 Chromosome 11, 47353795: 47353795
28 MYBPC3 NM_000256.3(MYBPC3): c.3288delG (p.Glu1096Aspfs) deletion Pathogenic rs727503172 GRCh38 Chromosome 11, 47333236: 47333236
29 MYBPC3 NM_000256.3(MYBPC3): c.1484G> A (p.Arg495Gln) single nucleotide variant Pathogenic/Likely pathogenic rs200411226 GRCh38 Chromosome 11, 47342718: 47342718
30 MYBPC3 NM_000256.3(MYBPC3): c.2394dupT (p.Gly799Trpfs) duplication Pathogenic/Likely pathogenic rs730880341 GRCh37 Chromosome 11, 47359260: 47359260
31 MYBPC3 NM_000256.3(MYBPC3): c.1358dupC (p.Val454Cysfs) duplication Pathogenic/Likely pathogenic rs730880711 GRCh37 Chromosome 11, 47364480: 47364480
32 MYBPC3 NM_000256.3(MYBPC3): c.676_701dup26 (p.Gly235Serfs) duplication Pathogenic rs786204329 GRCh38 Chromosome 11, 47348495: 47348520
33 MYBPC3 NM_000256.3(MYBPC3): c.2065C> T (p.Gln689Ter) single nucleotide variant Pathogenic/Likely pathogenic rs863224483 GRCh38 Chromosome 11, 47339653: 47339653
34 MYBPC3 NM_000256.3(MYBPC3): c.2414-1G> A single nucleotide variant Likely pathogenic rs863224899 GRCh37 Chromosome 11, 47359131: 47359131
35 MYBPC3 NM_000256.3(MYBPC3): c.3662delT (p.Leu1221Argfs) deletion Likely pathogenic rs863225107 GRCh38 Chromosome 11, 47332224: 47332224
36 MYBPC3 NM_000256.3(MYBPC3): c.3414_3415insC (p.Val1139Argfs) duplication Likely pathogenic rs863225114 GRCh37 Chromosome 11, 47354441: 47354441
37 MYBPC3 NM_000256.3(MYBPC3): c.3300C> A (p.Tyr1100Ter) single nucleotide variant Likely pathogenic rs863225113 GRCh37 Chromosome 11, 47354775: 47354775
38 MYBPC3 NM_000256.3(MYBPC3): c.2670_2671insG (p.Arg891Alafs) duplication Likely pathogenic rs863225104 GRCh37 Chromosome 11, 47357495: 47357495
39 MYBPC3 NM_000256.3(MYBPC3): c.2550delC (p.Asn850Lysfs) deletion Likely pathogenic rs863225105 GRCh38 Chromosome 11, 47337443: 47337443
40 MYBPC3 NM_000256.3(MYBPC3): c.2376G> A (p.Trp792Ter) single nucleotide variant Likely pathogenic rs863225112 GRCh37 Chromosome 11, 47359278: 47359278
41 MYBPC3 NM_000256.3(MYBPC3): c.2371C> T (p.Gln791Ter) single nucleotide variant Likely pathogenic rs863225106 GRCh37 Chromosome 11, 47359283: 47359283
42 MYBPC3 NM_000256.3(MYBPC3): c.1357C> T (p.Pro453Ser) single nucleotide variant Likely pathogenic rs749310275 GRCh37 Chromosome 11, 47364481: 47364481
43 MYBPC3 NM_000256.3(MYBPC3): c.306delC (p.Met103Cysfs) deletion Likely pathogenic rs863225109 GRCh38 Chromosome 11, 47350602: 47350602
44 MYBPC3 NM_000256.3(MYBPC3): c.227_228insA (p.Ser78Ilefs) duplication Likely pathogenic rs863225111 GRCh37 Chromosome 11, 47372855: 47372855
45 MYBPC3 NM_000256.3(MYBPC3): c.1404delG (p.Gln469Serfs) deletion Pathogenic/Likely pathogenic rs886037900 GRCh38 Chromosome 11, 47342883: 47342883
46 MYBPC3 NM_000256.3(MYBPC3): c.927_928delGG (p.Asp310Leufs) deletion Likely pathogenic rs886037902 GRCh38 Chromosome 11, 47346369: 47346370
47 MYBPC3 NM_000256.3(MYBPC3): c.332_335dupCTGA (p.Glu112Aspfs) duplication Pathogenic rs886037901 GRCh38 Chromosome 11, 47350573: 47350576
48 NCF1 NM_000265.5(NCF1): c.*154+25G> A single nucleotide variant Pathogenic rs1057519503 GRCh38 Chromosome 7, 74789339: 74789339
49 MYBPC3 NM_000256.3(MYBPC3): c.3324_3325delGA (p.Lys1108Asnfs) deletion Pathogenic rs1060499673 GRCh37 Chromosome 11, 47354750: 47354751
50 MYBPC3 NM_000256.3(MYBPC3): c.2148+1G> T single nucleotide variant Likely pathogenic rs1060499604 GRCh38 Chromosome 11, 47339323: 47339323

Expression for Cardiomyopathy, Hypertrophic, 4

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

Pathways for Cardiomyopathy, Hypertrophic, 4

GO Terms for Cardiomyopathy, Hypertrophic, 4

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

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.8 BRAF MYBPC1 MYBPC2 MYBPC3 NCF1 TTN
2 Z disc GO:0030018 9.46 MYBPC1 MYBPC2 MYBPC3 TTN
3 muscle myosin complex GO:0005859 9.43 MYBPC1 MYBPC2 TTN
4 myosin filament GO:0032982 9.13 MYBPC1 MYBPC2 MYBPC3
5 M band GO:0031430 8.92 MYBPC1 MYBPC2 MYBPC3 TTN

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

id Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.54 MYBPC1 MYBPC2 TTN
2 actin filament organization GO:0007015 9.5 MYBPC1 MYBPC2 MYBPC3
3 sarcomere organization GO:0045214 9.46 MYBPC1 MYBPC2 MYBPC3 TTN
4 striated muscle myosin thick filament assembly GO:0071688 9.43 MYBPC1 MYBPC2 MYBPC3
5 cardiac muscle contraction GO:0060048 9.4 MYBPC3 TTN
6 muscle filament sliding GO:0030049 9.26 MYBPC1 MYBPC2 MYBPC3 TTN
7 striated muscle contraction GO:0006941 8.92 MYBPC1 MYBPC2 MYBPC3 TTN

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

id Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.56 MYBPC1 MYBPC2 MYBPC3 TTN
2 structural constituent of muscle GO:0008307 9.46 MYBPC1 MYBPC2 MYBPC3 TTN
3 titin binding GO:0031432 9.32 MYBPC1 MYBPC3
4 muscle alpha-actinin binding GO:0051371 9.26 MYBPC1 MYBPC2 MYBPC3 TTN
5 structural molecule activity conferring elasticity GO:0097493 8.92 MYBPC1 MYBPC2 MYBPC3 TTN

Sources for Cardiomyopathy, Hypertrophic, 4

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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