MCID: CRD085

Cardiomyopathy, Familial Hypertrophic, 4 malady

Cardiovascular, Genetic categories

Summaries for Cardiomyopathy, Familial Hypertrophic, 4

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47OMIM, 33MalaCards
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MalaCards: Cardiomyopathy, Familial Hypertrophic, 4 An important gene associated with Cardiomyopathy, Familial Hypertrophic, 4 is MYBPC3 (myosin binding protein C, cardiac). Affiliated tissues include heart.

Description from OMIM:47 115197

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 4

Sources:
47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Cardiovascular


Aliases & Descriptions:

cardiomyopathy, familial hypertrophic, 4 47


Clinical Features for Cardiomyopathy, Familial Hypertrophic, 4

Sources:
47OMIM
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Clinical features from OMIM:

115197

Clinical synopsis from OMIM:

115197

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 4

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Cardiomyopathy, Familial Hypertrophic, 4

Drug clinical trials:

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Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 4

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 4

Sources:
33MalaCards
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MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 4:

33
Heart

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

Sources:
28inGenious Targeting Laboratory
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Publications for Cardiomyopathy, Familial Hypertrophic, 4

Sources:
51PubMed
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Articles related to Cardiomyopathy, Familial Hypertrophic, 4:

idTitleAuthorsYear
1
Familial hypertrophic cardiomyopathy owing to double heterozygosity for a 403Arg--> Trp mutation in exon 13 of the MYH7 gene and a novel mutation, 453Arg--> His, in exon 14 of the MYH7 gene: A case report. (20428263)
2001
2
Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure. (8655135)
1996

Genetic Variations for Cardiomyopathy, Familial Hypertrophic, 4

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 4:

63 (show all 59)
id Symbol AA change Variation 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.Asp605AsnVAR_029406
33MYBPC3p.Pro608LeuVAR_029407
34MYBPC3p.Arg668HisVAR_029408
35MYBPC3p.Arg668ProVAR_029409
36MYBPC3p.Arg733CysVAR_029410
37MYBPC3p.Asp770AsnVAR_029411rs36211723
38MYBPC3p.Trp792ArgVAR_029412
39MYBPC3p.Arg810HisVAR_029413
40MYBPC3p.Arg820GlnVAR_029416rs2856655
41MYBPC3p.Ala833ThrVAR_029417
42MYBPC3p.Arg834ThrVAR_029418
43MYBPC3p.Arg834TrpVAR_029419
44MYBPC3p.Pro873HisVAR_029420
45MYBPC3p.Asn948ThrVAR_029421
46MYBPC3p.Gln998ArgVAR_029422
47MYBPC3p.Arg1002GlnVAR_029423
48MYBPC3p.Pro1003GlnVAR_029425
49MYBPC3p.Phe1113IleVAR_029426
50MYBPC3p.Val1115IleVAR_029427
51MYBPC3p.Ile1131ThrVAR_029428
52MYBPC3p.Gly263ArgVAR_042740
53MYBPC3p.Arg273HisVAR_042741
54MYBPC3p.Ala417SerVAR_042742
55MYBPC3p.Leu669HisVAR_042743
56MYBPC3p.Glu759AspVAR_042744
57MYBPC3p.Arg495GlyVAR_045929
58MYBPC3p.Thr1028SerVAR_045930
59MYBPC3p.Gly1248ArgVAR_045931

Expression for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 4

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 4

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

Products for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 4

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cardiomyopathy, Familial Hypertrophic, 4

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet