MCID: CRD232
MIFTS: 36

Cardiomyopathy, Familial Hypertrophic, 6

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 6

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 6:

Name: Cardiomyopathy, Familial Hypertrophic, 6 57 73
Cardiomyopathy, Familial Hypertrophic 6 12 75 13
Cmh6 57 12 75
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 75 6
Familial Hypertrophic Cardiomyopathy 6 29 6
Hypertrophic Cardiomyopathy 6 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 6 40
Cardiomyopathy, Hypertrophic 6 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see )


HPO:

32
cardiomyopathy, familial hypertrophic, 6:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 57 600858
Disease Ontology 12 DOID:0110312
MedGen 42 C1833236
MeSH 44 D024741
UMLS 73 C1833236

Summaries for Cardiomyopathy, Familial Hypertrophic, 6

UniProtKB/Swiss-Prot : 75 Cardiomyopathy, familial hypertrophic 6: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH6 patients present Wolff-Parkinson-White ventricular preexcitation, enlarged myocytes without myofiber disarray, and glycogen-containing cytosolic vacuoles within cardiomyocytes.

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 6, also known as cardiomyopathy, familial hypertrophic 6, is related to wolff-parkinson-white syndrome and hypertrophic cardiomyopathy. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 6 is PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2), and among its related pathways/superpathways are Cardiac conduction and Dilated cardiomyopathy (DCM). Affiliated tissues include heart and skeletal muscle, and related phenotypes are hypertrophic cardiomyopathy and asymmetric septal hypertrophy

Disease Ontology : 12 A hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2).

OMIM : 57 Mutations in the PRKAG2 gene (602743) give rise to a moderate, essentially heart-specific, nonlysosomal glycogenosis with clinical onset typically in late adolescence or in the third decade of life, ventricular pre-excitation predisposing to supraventricular arrhythmias, mild-to-severe cardiac hypertrophy, enhanced risk of sudden cardiac death in midlife, and autosomal dominant inheritance with full penetrance (summary by Burwinkel et al., 2005). (600858)

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 6

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 6

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
hypertrophic cardiomyopathy
wolff-parkinson-white ventricular preexcitation
sinus bradycardia
atrioventricular block
left bundle branch block
more
Muscle Soft Tissue:
glycogenosis of skeletal muscle, mild (in some patients)


Clinical features from OMIM:

600858

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 6:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 32 HP:0001639
2 asymmetric septal hypertrophy 32 HP:0001670
3 atrioventricular block 32 HP:0001678
4 sinus bradycardia 32 HP:0001688
5 wolff-parkinson-white syndrome 32 HP:0001716
6 ventricular preexcitation 32 HP:0004309
7 atrial fibrillation 32 HP:0005110
8 left bundle branch block 32 HP:0011713

MGI Mouse Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.26 LMOD2 PRKAG2 TMOD1 TNNI3
2 muscle MP:0005369 8.92 LMOD2 PRKAG2 TMOD1 TNNI3

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 6

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 6

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 6

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 6:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 6 29 PRKAG2

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 6

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

41
Heart, Skeletal Muscle

Publications for Cardiomyopathy, Familial Hypertrophic, 6

Articles related to Cardiomyopathy, Familial Hypertrophic, 6:

# Title Authors Year
1
Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome progressing to ventricular dilation. ( 8644606 )
1996
2
Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. ( 7657794 )
1995

Variations for Cardiomyopathy, Familial Hypertrophic, 6

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

75
# Symbol AA change Variation ID SNP ID
1 PRKAG2 p.Arg302Gln VAR_013264 rs121908987
2 PRKAG2 p.His383Arg VAR_013266 rs121908988
3 PRKAG2 p.Thr400Asn VAR_013267 rs28938173
4 PRKAG2 p.Asn488Ile VAR_013268 rs121908989

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 6:

6
(show top 50) (show all 168)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKAG2 NM_016203.3(PRKAG2): c.905G> A (p.Arg302Gln) single nucleotide variant Pathogenic rs121908987 GRCh37 Chromosome 7, 151273498: 151273498
2 PRKAG2 NM_016203.3(PRKAG2): c.905G> A (p.Arg302Gln) single nucleotide variant Pathogenic rs121908987 GRCh38 Chromosome 7, 151576412: 151576412
3 PRKAG2 NM_016203.3(PRKAG2): c.1050_1051insTTA (p.Arg350_Glu351insLeu) insertion Pathogenic rs587776643 GRCh37 Chromosome 7, 151269750: 151269751
4 PRKAG2 NM_016203.3(PRKAG2): c.1050_1051insTTA (p.Arg350_Glu351insLeu) insertion Pathogenic rs587776643 GRCh38 Chromosome 7, 151572664: 151572665
5 PRKAG2 NM_016203.3(PRKAG2): c.1199C> A (p.Thr400Asn) single nucleotide variant Likely pathogenic rs28938173 GRCh37 Chromosome 7, 151265836: 151265836
6 PRKAG2 NM_016203.3(PRKAG2): c.1199C> A (p.Thr400Asn) single nucleotide variant Likely pathogenic rs28938173 GRCh38 Chromosome 7, 151568750: 151568750
7 PRKAG2 NM_016203.3(PRKAG2): c.1463A> T (p.Asn488Ile) single nucleotide variant Pathogenic rs121908989 GRCh37 Chromosome 7, 151261285: 151261285
8 PRKAG2 NM_016203.3(PRKAG2): c.1463A> T (p.Asn488Ile) single nucleotide variant Pathogenic rs121908989 GRCh38 Chromosome 7, 151564199: 151564199
9 PRKAG2 NM_016203.3(PRKAG2): c.1459T> C (p.Tyr487His) single nucleotide variant Pathogenic rs267606976 GRCh37 Chromosome 7, 151261289: 151261289
10 PRKAG2 NM_016203.3(PRKAG2): c.1459T> C (p.Tyr487His) single nucleotide variant Pathogenic rs267606976 GRCh38 Chromosome 7, 151564203: 151564203
11 PRKAG2 NM_016203.3(PRKAG2): c.1589A> G (p.His530Arg) single nucleotide variant Pathogenic rs267606977 GRCh37 Chromosome 7, 151257699: 151257699
12 PRKAG2 NM_016203.3(PRKAG2): c.1589A> G (p.His530Arg) single nucleotide variant Pathogenic rs267606977 GRCh38 Chromosome 7, 151560613: 151560613
13 PRKAG2 NM_016203.3(PRKAG2): c.1516G> C (p.Glu506Gln) single nucleotide variant Likely pathogenic rs267606978 GRCh37 Chromosome 7, 151261232: 151261232
14 PRKAG2 NM_016203.3(PRKAG2): c.1516G> C (p.Glu506Gln) single nucleotide variant Likely pathogenic rs267606978 GRCh38 Chromosome 7, 151564146: 151564146
15 PRKAG2 NM_016203.3(PRKAG2): c.1642T> C (p.Ser548Pro) single nucleotide variant Pathogenic rs267606979 GRCh37 Chromosome 7, 151257646: 151257646
16 PRKAG2 NM_016203.3(PRKAG2): c.1642T> C (p.Ser548Pro) single nucleotide variant Pathogenic rs267606979 GRCh38 Chromosome 7, 151560560: 151560560
17 TNNI3 NM_000363.4(TNNI3): c.244C> T (p.Pro82Ser) single nucleotide variant risk factor rs77615401 GRCh37 Chromosome 19, 55667607: 55667607
18 TNNI3 NM_000363.4(TNNI3): c.244C> T (p.Pro82Ser) single nucleotide variant risk factor rs77615401 GRCh38 Chromosome 19, 55156239: 55156239
19 PRKAG2 NM_016203.3(PRKAG2): c.879C> A (p.Phe293Leu) single nucleotide variant Likely pathogenic rs193922697 GRCh37 Chromosome 7, 151273524: 151273524
20 PRKAG2 NM_016203.3(PRKAG2): c.879C> A (p.Phe293Leu) single nucleotide variant Likely pathogenic rs193922697 GRCh38 Chromosome 7, 151576438: 151576438
21 TNNI3 NM_000363.4(TNNI3): c.372+7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs367809676 GRCh37 Chromosome 19, 55666102: 55666102
22 TNNI3 NM_000363.4(TNNI3): c.372+7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs367809676 GRCh38 Chromosome 19, 55154734: 55154734
23 PRKAG2 NM_016203.3(PRKAG2): c.202G> A (p.Gly68Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs730880970 GRCh38 Chromosome 7, 151781416: 151781416
24 PRKAG2 NM_016203.3(PRKAG2): c.202G> A (p.Gly68Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs730880970 GRCh37 Chromosome 7, 151478502: 151478502
25 TNNI3 NM_000363.4(TNNI3): c.*35C> T single nucleotide variant Conflicting interpretations of pathogenicity rs375447438 GRCh38 Chromosome 19, 55151799: 55151799
26 TNNI3 NM_000363.4(TNNI3): c.*35C> T single nucleotide variant Conflicting interpretations of pathogenicity rs375447438 GRCh37 Chromosome 19, 55663167: 55663167
27 PRKAG2 NM_016203.3(PRKAG2): c.1310C> G (p.Ala437Gly) single nucleotide variant Uncertain significance rs762111172 GRCh38 Chromosome 7, 151565809: 151565809
28 PRKAG2 NM_016203.3(PRKAG2): c.1310C> G (p.Ala437Gly) single nucleotide variant Uncertain significance rs762111172 GRCh37 Chromosome 7, 151262895: 151262895
29 PRKAG2 NM_016203.3(PRKAG2): c.-26C> T single nucleotide variant Likely benign rs66628686 GRCh37 Chromosome 7, 151573731: 151573731
30 PRKAG2 NM_016203.3(PRKAG2): c.-26C> T single nucleotide variant Likely benign rs66628686 GRCh38 Chromosome 7, 151876646: 151876646
31 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.1440-8A> G single nucleotide variant Benign/Likely benign rs28377509 GRCh37 Chromosome 19, 55670825: 55670825
32 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.1440-8A> G single nucleotide variant Benign/Likely benign rs28377509 GRCh38 Chromosome 19, 55159457: 55159457
33 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.1365-14C> T single nucleotide variant Benign/Likely benign rs60176657 GRCh38 Chromosome 19, 55159621: 55159621
34 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.1365-14C> T single nucleotide variant Benign/Likely benign rs60176657 GRCh37 Chromosome 19, 55670989: 55670989
35 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.1257G> A (p.Pro419=) single nucleotide variant Benign/Likely benign rs891187 GRCh37 Chromosome 19, 55671374: 55671374
36 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.1257G> A (p.Pro419=) single nucleotide variant Benign/Likely benign rs891187 GRCh38 Chromosome 19, 55160006: 55160006
37 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.1205T> C (p.Leu402Pro) single nucleotide variant Benign/Likely benign rs890871 GRCh37 Chromosome 19, 55672055: 55672055
38 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.1205T> C (p.Leu402Pro) single nucleotide variant Benign/Likely benign rs890871 GRCh38 Chromosome 19, 55160687: 55160687
39 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.1079A> G (p.Glu360Gly) single nucleotide variant Benign/Likely benign rs2365725 GRCh38 Chromosome 19, 55161102: 55161102
40 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.1079A> G (p.Glu360Gly) single nucleotide variant Benign/Likely benign rs2365725 GRCh37 Chromosome 19, 55672470: 55672470
41 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.994-14C> T single nucleotide variant Benign/Likely benign rs7260371 GRCh37 Chromosome 19, 55672569: 55672569
42 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.994-14C> T single nucleotide variant Benign/Likely benign rs7260371 GRCh38 Chromosome 19, 55161201: 55161201
43 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.870T> C (p.Ala290=) single nucleotide variant Benign/Likely benign rs7260320 GRCh37 Chromosome 19, 55672784: 55672784
44 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.870T> C (p.Ala290=) single nucleotide variant Benign/Likely benign rs7260320 GRCh38 Chromosome 19, 55161416: 55161416
45 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.733G> A (p.Gly245Ser) single nucleotide variant Benign/Likely benign rs58824375 GRCh37 Chromosome 19, 55673145: 55673145
46 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.733G> A (p.Gly245Ser) single nucleotide variant Benign/Likely benign rs58824375 GRCh38 Chromosome 19, 55161777: 55161777
47 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.714A> G (p.Val238=) single nucleotide variant Benign/Likely benign rs56726774 GRCh38 Chromosome 19, 55161796: 55161796
48 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.714A> G (p.Val238=) single nucleotide variant Benign/Likely benign rs56726774 GRCh37 Chromosome 19, 55673164: 55673164
49 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.531A> G (p.Arg177=) single nucleotide variant Benign/Likely benign rs3848618 GRCh37 Chromosome 19, 55673654: 55673654
50 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.531A> G (p.Arg177=) single nucleotide variant Benign/Likely benign rs3848618 GRCh38 Chromosome 19, 55162286: 55162286

Expression for Cardiomyopathy, Familial Hypertrophic, 6

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

Pathways for Cardiomyopathy, Familial Hypertrophic, 6

GO Terms for Cardiomyopathy, Familial Hypertrophic, 6

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament GO:0005884 9.43 LMOD1 LMOD2 TMOD1
2 striated muscle thin filament GO:0005865 9.33 LMOD1 LMOD2 TMOD1
3 sarcomere GO:0030017 9.26 LMOD1 LMOD2 TMOD1 TNNI3
4 myofibril GO:0030016 8.92 LMOD1 LMOD2 TMOD1 TNNI3

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.46 LMOD1 LMOD2 TMOD1 TNNI3
2 actin filament organization GO:0007015 9.43 LMOD1 LMOD2 TMOD1
3 positive regulation of actin filament polymerization GO:0030838 9.4 LMOD1 LMOD2
4 muscle filament sliding GO:0030049 9.37 TMOD1 TNNI3
5 actin nucleation GO:0045010 9.32 LMOD1 LMOD2
6 myofibril assembly GO:0030239 9.13 LMOD1 LMOD2 TMOD1
7 pointed-end actin filament capping GO:0051694 8.8 LMOD1 LMOD2 TMOD1

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.26 LMOD1 LMOD2 TMOD1 TNNI3
2 actin filament binding GO:0051015 9.16 TMOD1 TNNI3
3 tropomyosin binding GO:0005523 8.8 LMOD1 LMOD2 TMOD1

Sources for Cardiomyopathy, Familial Hypertrophic, 6

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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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