MCID: CRD154
MIFTS: 12

Cardiomyopathy, Familial Hypertrophic 6 malady

Cardiovascular diseases, Genetic diseases categories

Summaries for Cardiomyopathy, Familial Hypertrophic 6

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46OMIM, 32MalaCards
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MalaCards: Cardiomyopathy, Familial Hypertrophic 6 An important gene associated with Cardiomyopathy, Familial Hypertrophic 6 is PRKAG2 (protein kinase, AMP-activated, gamma 2 non-catalytic subunit). Affiliated tissues include heart.

Description from OMIM:46 600858

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic 6

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46OMIM
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Classifications:

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


Aliases & Descriptions:

cardiomyopathy, familial hypertrophic 6 46


Related Diseases for Cardiomyopathy, Familial Hypertrophic 6

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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, 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

Clinical Features for Cardiomyopathy, Familial Hypertrophic 6

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46OMIM
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Clinical features from OMIM:

600858

Clinical synopsis from OMIM:

600858

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic 6

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Cardiomyopathy, Familial Hypertrophic 6

Drug clinical trials:

Search ClinicalTrials for Cardiomyopathy, Familial Hypertrophic 6

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic 6

Search CenterWatch for Cardiomyopathy, Familial Hypertrophic 6

Genetic Tests for Cardiomyopathy, Familial Hypertrophic 6

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Anatomical Context for Cardiomyopathy, Familial Hypertrophic 6

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32MalaCards
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MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic 6:

32
Heart

Animal Models for Cardiomyopathy, Familial Hypertrophic 6 or affiliated genes

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Publications for Cardiomyopathy, Familial Hypertrophic 6

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Genetic Variations for Cardiomyopathy, Familial Hypertrophic 6

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Cardiomyopathy, Familial Hypertrophic 6:

62
id Symbol AA change Variation ID SNP ID
1PRKAG2p.Arg302GlnVAR_013264
2PRKAG2p.His383ArgVAR_013266
3PRKAG2p.Thr400AsnVAR_013267rs28938173
4PRKAG2p.Asn488IleVAR_013268

Expression for genes affiliated with Cardiomyopathy, Familial Hypertrophic 6

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cardiomyopathy, Familial Hypertrophic 6

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic 6.

Pathways for genes affiliated with Cardiomyopathy, Familial Hypertrophic 6

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Compounds for genes affiliated with Cardiomyopathy, Familial Hypertrophic 6

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GO Terms for genes affiliated with Cardiomyopathy, Familial Hypertrophic 6

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Products for genes affiliated with Cardiomyopathy, Familial Hypertrophic 6

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cardiomyopathy, Familial Hypertrophic 6

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet