MCID: CRD154
MIFTS: 21

Cardiomyopathy, Familial Hypertrophic 6 malady

Genetic diseases, Cardiovascular diseases, Rare diseases categories

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic 6

About this section

Aliases & Descriptions for Cardiomyopathy, Familial Hypertrophic 6:

Name: Cardiomyopathy, Familial Hypertrophic 6 46 9
 
Cardiomyopathy, Familial Hypertrophic, 6 46 22


Classifications:



External Ids:

OMIM46 600858

Summaries for Cardiomyopathy, Familial Hypertrophic 6

About this section
OMIM:46 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

About this section

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

About this section

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

About this section

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

About this section

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

About this section

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

31
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

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

63
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:

5
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

About this section
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

Sources for Cardiomyopathy, Familial Hypertrophic 6

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet