MCID: CRD154
MIFTS: 13

Cardiomyopathy, Familial Hypertrophic 6 malady

Genetic diseases, Cardiovascular diseases, Muscle diseases, Rare diseases categories
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Summaries for Cardiomyopathy, Familial Hypertrophic 6

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MalaCards based summary: Cardiomyopathy, Familial Hypertrophic 6 and has symptoms including 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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Cardiomyopathy, Familial Hypertrophic 6, Aliases & Descriptions:

Name: Cardiomyopathy, Familial Hypertrophic 6 46


Classifications:



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, 22 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

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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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Anatomical Context for Cardiomyopathy, Familial Hypertrophic 6

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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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Variations for Cardiomyopathy, Familial Hypertrophic 6

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

64
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 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 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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Expression patterns in normal tissues for genes affiliated with Cardiomyopathy, Familial Hypertrophic 6

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet