MCID: CRD154
MIFTS: 21

Cardiomyopathy, Familial Hypertrophic 6 malady

Genetic diseases, Cardiovascular diseases, Rare diseases categories

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic 6

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Cardiomyopathy, Familial Hypertrophic 6, Aliases & Descriptions:

Name: Cardiomyopathy, Familial Hypertrophic 6 45 10
 
Cardiomyopathy, Familial Hypertrophic, 6 45 22


Classifications:

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


External Ids:

OMIM45 600858

Summaries for Cardiomyopathy, Familial Hypertrophic 6

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OMIM:45 Mutations in the PRKAG2 gene (602743) give rise to a moderate, essentially heart-specific, nonlysosomal glycogenosis... (600858) more...

MalaCards based summary: Cardiomyopathy, Familial Hypertrophic 6, is also known as cardiomyopathy, familial hypertrophic, 6, and has symptoms including autosomal dominant inheritance, hypertrophic cardiomyopathy and asymmetric septal hypertrophy. An important gene associated with Cardiomyopathy, Familial Hypertrophic 6 is PRKAG2 (protein kinase, AMP-activated, gamma 2 non-catalytic subunit). Affiliated tissues include heart.

Related Diseases for Cardiomyopathy, Familial Hypertrophic 6

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Diseases in the Hypertrophic Cardiomyopathy family:

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, 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 6 Cardiomyopathy, Familial Hypertrophic 17
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

Symptoms for Cardiomyopathy, Familial Hypertrophic 6

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Symptoms by clinical synopsis from OMIM:

600858

Clinical features from OMIM:

600858

HPO human phenotypes related to Cardiomyopathy, Familial Hypertrophic 6:

(show all 9)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hypertrophic cardiomyopathy HP:0001639
3 asymmetric septal hypertrophy HP:0001670
4 atrioventricular block HP:0001678
5 sinus bradycardia HP:0001688
6 wolff-parkinson-white syndrome HP:0001716
7 ventricular preexcitation HP:0004309
8 atrial fibrillation HP:0005110
9 left bundle branch block HP:0011713

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic 6

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Drug clinical trials:

Search ClinicalTrials for Cardiomyopathy, Familial Hypertrophic 6

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic 6

Genetic Tests for Cardiomyopathy, Familial Hypertrophic 6

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Genetic tests related to Cardiomyopathy, Familial Hypertrophic 6:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 622

Anatomical Context for Cardiomyopathy, Familial Hypertrophic 6

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

31
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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Variations for Cardiomyopathy, Familial Hypertrophic 6

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UniProtKB/Swiss-Prot 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

Clinvar genetic disease variations for Cardiomyopathy, Familial Hypertrophic 6:

6
id Gene Variation 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

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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
  • Proteins
  • Kits and Assays

Sources for Cardiomyopathy, Familial Hypertrophic 6

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet