MCID: CRD085
MIFTS: 13

Cardiomyopathy, Familial Hypertrophic, 4 malady

Genetic diseases, Cardiovascular diseases, Muscle diseases, Rare diseases categories
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Summaries for Cardiomyopathy, Familial Hypertrophic, 4

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MalaCards based summary: Cardiomyopathy, Familial Hypertrophic, 4 and has symptoms including An important gene associated with Cardiomyopathy, Familial Hypertrophic, 4 is MYBPC3 (myosin binding protein C, cardiac).

Description from OMIM:46 115197

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 4

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Cardiomyopathy, Familial Hypertrophic, 4, Aliases & Descriptions:

Name: Cardiomyopathy, Familial Hypertrophic, 4 46


Classifications:



Related Diseases for Cardiomyopathy, Familial Hypertrophic, 4

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Diseases in the Familial Hypertrophic Cardiomyopathy family:

Hypertrophic Cardiomyopathy Cav3-Related Hypertrophic Cardiomyopathy
Myh7-Related Familial Hypertrophic Cardiomyopathy Tnnt2-Related Familial Hypertrophic Cardiomyopathy
Tpm1-Related Familial Hypertrophic Cardiomyopathy Mybpc3-Related Familial Hypertrophic Cardiomyopathy
Tnni3-Related Familial Hypertrophic Cardiomyopathy Myl3-Related Familial Hypertrophic Cardiomyopathy
Myl2-Related Familial Hypertrophic Cardiomyopathy Ttn-Related Familial Hypertrophic Cardiomyopathy
Actc1-Related Familial Hypertrophic Cardiomyopathy Myh6-Related Familial Hypertrophic Cardiomyopathy
Tcap-Related Familial Hypertrophic Cardiomyopathy Csrp3-Related Familial Hypertrophic Cardiomyopathy
Tnnc1-Related Familial Hypertrophic Cardiomyopathy Actn2-Related Familial Hypertrophic Cardiomyopathy
Myoz2-Related Familial Hypertrophic Cardiomyopathy Nexn-Related Familial Hypertrophic Cardiomyopathy
Pln-Related Familial Hypertrophic Cardiomyopathy Cardiomyopathy, Familial Hypertrophic, 20
Cardiomyopathy, Familial Hypertrophic, 2 Cardiomyopathy, Familial Hypertrophic, 9
Cardiomyopathy, Familial Hypertrophic, 13 Cardiomyopathy, Familial Hypertrophic, 8
Cardiomyopathy, Familial Hypertrophic, 16 Cardiomyopathy, Familial Hypertrophic, 18
Cardiomyopathy, Familial Hypertrophic, 21 Cardiomyopathy, Familial Hypertrophic 6
Cardiomyopathy, Familial Hypertrophic, 22 Cardiomyopathy, Familial Hypertrophic, 15
Cardiomyopathy, Familial Hypertrophic, 12 cardiomyopathy, familial hypertrophic, 4
Cardiomyopathy, Familial Hypertrophic, 10 Cardiomyopathy, Familial Hypertrophic, 14
Cardiomyopathy, Familial Hypertrophic, 1 Cardiomyopathy, Familial Hypertrophic, 11
Cardiomyopathy, Familial Hypertrophic, 3 Cardiomyopathy, Familial Hypertrophic, 19
Cardiomyopathy, Familial Hypertrophic, 7 Cardiomyopathy, Familial Hypertrophic 17
Hypertrophic Cardiomyopathy Due to Intensive Athletic Training

Symptoms for Cardiomyopathy, Familial Hypertrophic, 4

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Symptoms by clinical synopsis from OMIM:

115197

Clinical features from OMIM:

115197

HPO human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 4:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hypertrophic cardiomyopathy HP:0001639

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 4

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Drug clinical trials:

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Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 4

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 4

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Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 4

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Animal Models for Cardiomyopathy, Familial Hypertrophic, 4 or affiliated genes

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Publications for Cardiomyopathy, Familial Hypertrophic, 4

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Variations for Cardiomyopathy, Familial Hypertrophic, 4

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

64 (show all 62)
id Symbol AA change Variation ID SNP ID
1MYBPC3p.Glu542GlnVAR_003917
2MYBPC3p.Arg654HisVAR_003918rs1800565
3MYBPC3p.Asn755LysVAR_003919
4MYBPC3p.His257ProVAR_019889
5MYBPC3p.Glu258LysVAR_019890
6MYBPC3p.Gly278GluVAR_019891rs147315081
7MYBPC3p.Gly279AlaVAR_019892
8MYBPC3p.Leu352ProVAR_019894
9MYBPC3p.Arg502TrpVAR_019895
10MYBPC3p.Lys811ArgVAR_019897
11MYBPC3p.Ala833ValVAR_019898rs3729952
12MYBPC3p.Ala1194ThrVAR_019900
13MYBPC3p.Ala1255ThrVAR_019901
14MYBPC3p.Gln998GluVAR_020574rs11570112
15MYBPC3p.Glu451GlnVAR_027879
16MYBPC3p.Arg495GlnVAR_027880
17MYBPC3p.Arg502GlnVAR_027881
18MYBPC3p.Gly5ArgVAR_029390
19MYBPC3p.Thr59AlaVAR_029391
20MYBPC3p.Pro161SerVAR_029392
21MYBPC3p.Val219LeuVAR_029393
22MYBPC3p.Asp228AsnVAR_029394
23MYBPC3p.Tyr237SerVAR_029395
24MYBPC3p.Val256IleVAR_029396
25MYBPC3p.Arg282TrpVAR_029397
26MYBPC3p.Arg458HisVAR_029399
27MYBPC3p.Gly490ArgVAR_029400
28MYBPC3p.Gly507ArgVAR_029401rs35736435
29MYBPC3p.Gly523TrpVAR_029402
30MYBPC3p.Cys566ArgVAR_029404
31MYBPC3p.Asp604ValVAR_029405
32MYBPC3p.Pro608LeuVAR_029407
33MYBPC3p.Arg668HisVAR_029408
34MYBPC3p.Arg668ProVAR_029409
35MYBPC3p.Arg733CysVAR_029410
36MYBPC3p.Asp770AsnVAR_029411rs36211723
37MYBPC3p.Trp792ArgVAR_029412
38MYBPC3p.Arg810HisVAR_029413
39MYBPC3p.Arg820GlnVAR_029416rs2856655
40MYBPC3p.Ala833ThrVAR_029417
41MYBPC3p.Arg834ThrVAR_029418
42MYBPC3p.Arg834TrpVAR_029419
43MYBPC3p.Pro873HisVAR_029420
44MYBPC3p.Asn948ThrVAR_029421
45MYBPC3p.Gln998ArgVAR_029422
46MYBPC3p.Arg1002GlnVAR_029423
47MYBPC3p.Pro1003GlnVAR_029425
48MYBPC3p.Phe1113IleVAR_029426
49MYBPC3p.Val1115IleVAR_029427
50MYBPC3p.Gly263ArgVAR_042740
51MYBPC3p.Arg273HisVAR_042741
52MYBPC3p.Ala417SerVAR_042742
53MYBPC3p.Leu669HisVAR_042743
54MYBPC3p.Glu759AspVAR_042744
55MYBPC3p.Arg495GlyVAR_045929
56MYBPC3p.Thr1028SerVAR_045930
57MYBPC3p.Gly1248ArgVAR_045931
58MYBPC3p.Arg272CysVAR_070449
59MYBPC3p.Ile336ValVAR_070450
60MYBPC3p.Gly490ValVAR_070451
61MYBPC3p.Thr957SerVAR_070453
62MYBPC3p.Thr958IleVAR_070454

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

6 (show all 24)
id Gene Name Type Significance SNP ID Assembly Location
1MYBPC3NM_000256.3(MYBPC3): c.1224-19G> Asingle nucleotide variantPathogenicGRCh38Chr 11, 47343281: 47343281
2MYBPC3MYBPC3, ARG745GLYundetermined variantPathogenic
3MYBPC3NM_000256.3(MYBPC3): c.2618C> A (p.Pro873His)single nucleotide variantPathogenicrs371401403GRCh37Chr 11, 47357547: 47357547
4MYBPC3NM_000256.3(MYBPC3): c.2827C> T (p.Arg943Ter)single nucleotide variantPathogenicrs387907267GRCh37Chr 11, 47356671: 47356671
5MYBPC3NM_000256.3(MYBPC3): c.1468G> A (p.Gly490Arg)single nucleotide variantPathogenicrs200625851GRCh37Chr 11, 47364285: 47364285
6MYBPC3NM_000256.3(MYBPC3): c.1928-2A> Gsingle nucleotide variantPathogenicrs397515937GRCh37Chr 11, 47361343: 47361343
7MYBPC3NM_000256.3(MYBPC3): c.2497G> A (p.Ala833Thr)single nucleotide variantPathogenicrs199865688GRCh37Chr 11, 47359047: 47359047
8MYBPC3NM_000256.3(MYBPC3): c.3490+1G> Asingle nucleotide variantPathogenicrs397516020GRCh37Chr 11, 47354364: 47354364
9MYBPC3NM_000256.3(MYBPC3): c.821+5G> Asingle nucleotide variantLikely pathogenicrs397516077GRCh37Chr 11, 47369403: 47369403
10MYBPC3NM_000256.3(MYBPC3): c.1469G> T (p.Gly490Val)single nucleotide variantPathogenicrs397514752GRCh37Chr 11, 47364284: 47364284
11MYBPC3NM_000256.3(MYBPC3): c.3330+5G> Asingle nucleotide variantPathogenicrs373746463GRCh37Chr 11, 47354740: 47354740
12MYBPC3NM_000256.3(MYBPC3)duplicationPathogenicrs193922384GRCh38Chr 11, 47332127: 47332144
13MYBPC3NM_000256.3(MYBPC3): c.3373G> A (p.Val1125Met)single nucleotide variantPathogenicrs121909378GRCh37Chr 11, 47354482: 47354482
14MYBPC3NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln)single nucleotide variantPathogenicrs121909374GRCh37Chr 11, 47364129: 47364129
15MYBPC3MYBPC3, IVS23, G-A, +1single nucleotide variantPathogenic
16MYBPC3MYBPC3, BRANCH POINT, IVS23, A-G, TGAT-TGGTsingle nucleotide variantPathogenic
17MYBPC3MYBPC3, 5-BP DEL, EX25deletionPathogenic
18MYBPC3MYBPC3, 12-BP DUP/4-BP DEL, EX33duplicationPathogenic
19MYBPC3MYBPC3, 1-BP INS, 2405GinsertionPathogenic
20MYBPC3NM_000256.3(MYBPC3): c.175A> G (p.Thr59Ala)single nucleotide variantPathogenicrs121909375GRCh37Chr 11, 47372907: 47372907
21MYBPC3NM_000256.3(MYBPC3): c.3286G> T (p.Glu1096Ter)single nucleotide variantPathogenicrs121909377GRCh37Chr 11, 47354789: 47354789
22MYBPC3NM_000256.3(MYBPC3): c.2459G> A (p.Arg820Gln)single nucleotide variantPathogenicrs2856655GRCh37Chr 11, 47359085: 47359085
23MYBPC3NM_000256.3: c.906-1G> Csingle nucleotide variantPathogenicGRCh38Chr 11, 47347030: 47347030
24MYBPC3NM_000256.3(MYBPC3): c.3330+2T> Gsingle nucleotide variantPathogenicrs387906397GRCh37Chr 11, 47354743: 47354743

Expression for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 4

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Expression patterns in normal tissues for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 4

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Pathways for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 4

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Compounds for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 4

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GO Terms for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 4

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Products for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 4

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  • Antibodies
  • Proteins
  • Lysates

Sources for Cardiomyopathy, Familial Hypertrophic, 4

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet