MCID: CRD154
MIFTS: 13

Cardiomyopathy, Familial Hypertrophic 6 malady

Genetic diseases, Cardiovascular diseases, Rare diseases categories

Summaries for Cardiomyopathy, Familial Hypertrophic 6

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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:48 600858

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic 6

About this section
Sources:
48OMIM
See all sources

Classifications:

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


Aliases & Descriptions:

cardiomyopathy, familial hypertrophic 6 48


Related Diseases for Cardiomyopathy, Familial Hypertrophic 6

About this section

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

Symptoms for Cardiomyopathy, Familial Hypertrophic 6

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

600858

Clinical features from OMIM:

600858

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic 6

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

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

About this section

Anatomical Context for Cardiomyopathy, Familial Hypertrophic 6

About this section
Sources:
34MalaCards
See all sources

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

34
Heart

Animal Models for Cardiomyopathy, Familial Hypertrophic 6 or affiliated genes

About this section

Publications for Cardiomyopathy, Familial Hypertrophic 6

About this section

Variations for Cardiomyopathy, Familial Hypertrophic 6

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic 6:

65
id Symbol AA change Variation ID SNP ID
1PRKAG2p.Arg302GlnVAR_013264
2PRKAG2p.His383ArgVAR_013266
3PRKAG2p.Thr400AsnVAR_013267rs28938173
4PRKAG2p.Asn488IleVAR_013268

Clinvar genetic disease variations for Cardiomyopathy, Familial Hypertrophic 6:

1
id Gene Name Type Significance SNP ID Assembly Location
1PRKAG2NM_016203.3(PRKAG2): c.905G> A (p.Arg302Gln)single nucleotide variantPathogenicrs121908987GRCh37Chr 7, 151273498: 151273498
2PRKAG2NM_016203.3(PRKAG2): c.1148A> G (p.His383Arg)single nucleotide variantPathogenicrs121908988GRCh37Chr 7, 151265887: 151265887
3PRKAG2NM_016203.3(PRKAG2): c.1050_1051insTTA (p.Arg350_Glu351insLeu)insertionPathogenicGRCh37Chr 7, 151269750: 151269751
4PRKAG2NM_016203.3(PRKAG2): c.1199C> A (p.Thr400Asn)single nucleotide variantLikely pathogenic, Pathogenicrs28938173GRCh37Chr 7, 151265836: 151265836
5PRKAG2NM_016203.3(PRKAG2): c.1463A> T (p.Asn488Ile)single nucleotide variantPathogenicrs121908989GRCh37Chr 7, 151261285: 151261285
6PRKAG2NM_016203.3(PRKAG2): c.1459T> C (p.Tyr487His)single nucleotide variantPathogenicrs267606976GRCh37Chr 7, 151261289: 151261289
7PRKAG2NM_016203.3(PRKAG2): c.1589A> G (p.His530Arg)single nucleotide variantPathogenicrs267606977GRCh37Chr 7, 151257699: 151257699
8PRKAG2NM_016203.3(PRKAG2): c.1516G> C (p.Glu506Gln)single nucleotide variantPathogenicrs267606978GRCh37Chr 7, 151261232: 151261232
9PRKAG2NM_016203.3(PRKAG2): c.1642T> C (p.Ser548Pro)single nucleotide variantPathogenicrs267606979GRCh37Chr 7, 151257646: 151257646

Expression for genes affiliated with Cardiomyopathy, Familial Hypertrophic 6

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Cardiomyopathy, Familial Hypertrophic 6

About this section

GO Terms for genes affiliated with Cardiomyopathy, Familial Hypertrophic 6

About this section

Products for genes affiliated with Cardiomyopathy, Familial Hypertrophic 6

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cardiomyopathy, Familial Hypertrophic 6

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet