CMH6
MCID: CRD232
MIFTS: 36

Cardiomyopathy, Familial Hypertrophic, 6 (CMH6)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory 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 heterogeneous autosomal dominant inheritance


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 atrioventricular block

Disease Ontology : 12 A familial 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
atrioventricular block
atrial fibrillation
sinus bradycardia
wolff-parkinson-white ventricular preexcitation
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 9)
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 32 HP:0001639
2 atrioventricular block 32 HP:0001678
3 wolff-parkinson-white syndrome 32 HP:0001716
4 ventricular preexcitation 32 HP:0004309
5 atrial fibrillation 32 HP:0005110
6 sinus bradycardia 32 HP:0001688
7 asymmetric septal hypertrophy 32 HP:0001670
8 left bundle branch block 32 HP:0011713
9 myofiber disarray 32 HP:0031318

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 214)
# 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.1148A> G (p.His383Arg) single nucleotide variant Uncertain significance rs121908988 GRCh37 Chromosome 7, 151265887: 151265887
4 PRKAG2 NM_016203.3(PRKAG2): c.1148A> G (p.His383Arg) single nucleotide variant Uncertain significance rs121908988 GRCh38 Chromosome 7, 151568801: 151568801
5 PRKAG2 NM_016203.3(PRKAG2): c.1050_1051insTTA (p.Arg350_Glu351insLeu) insertion Pathogenic rs587776643 GRCh37 Chromosome 7, 151269750: 151269751
6 PRKAG2 NM_016203.3(PRKAG2): c.1050_1051insTTA (p.Arg350_Glu351insLeu) insertion Pathogenic rs587776643 GRCh38 Chromosome 7, 151572664: 151572665
7 PRKAG2 NM_016203.3(PRKAG2): c.1199C> A (p.Thr400Asn) single nucleotide variant Likely pathogenic rs28938173 GRCh37 Chromosome 7, 151265836: 151265836
8 PRKAG2 NM_016203.3(PRKAG2): c.1199C> A (p.Thr400Asn) single nucleotide variant Likely pathogenic rs28938173 GRCh38 Chromosome 7, 151568750: 151568750
9 PRKAG2 NM_016203.3(PRKAG2): c.1463A> T (p.Asn488Ile) single nucleotide variant Pathogenic rs121908989 GRCh37 Chromosome 7, 151261285: 151261285
10 PRKAG2 NM_016203.3(PRKAG2): c.1463A> T (p.Asn488Ile) single nucleotide variant Pathogenic rs121908989 GRCh38 Chromosome 7, 151564199: 151564199
11 PRKAG2 NM_016203.3(PRKAG2): c.1459T> C (p.Tyr487His) single nucleotide variant Pathogenic rs267606976 GRCh37 Chromosome 7, 151261289: 151261289
12 PRKAG2 NM_016203.3(PRKAG2): c.1459T> C (p.Tyr487His) single nucleotide variant Pathogenic rs267606976 GRCh38 Chromosome 7, 151564203: 151564203
13 PRKAG2 NM_016203.3(PRKAG2): c.1589A> G (p.His530Arg) single nucleotide variant Pathogenic rs267606977 GRCh37 Chromosome 7, 151257699: 151257699
14 PRKAG2 NM_016203.3(PRKAG2): c.1589A> G (p.His530Arg) single nucleotide variant Pathogenic rs267606977 GRCh38 Chromosome 7, 151560613: 151560613
15 PRKAG2 NM_016203.3(PRKAG2): c.1516G> C (p.Glu506Gln) single nucleotide variant Likely pathogenic rs267606978 GRCh37 Chromosome 7, 151261232: 151261232
16 PRKAG2 NM_016203.3(PRKAG2): c.1516G> C (p.Glu506Gln) single nucleotide variant Likely pathogenic rs267606978 GRCh38 Chromosome 7, 151564146: 151564146
17 PRKAG2 NM_016203.3(PRKAG2): c.1642T> C (p.Ser548Pro) single nucleotide variant Pathogenic rs267606979 GRCh37 Chromosome 7, 151257646: 151257646
18 PRKAG2 NM_016203.3(PRKAG2): c.1642T> C (p.Ser548Pro) single nucleotide variant Pathogenic rs267606979 GRCh38 Chromosome 7, 151560560: 151560560
19 TNNI3 NM_000363.4(TNNI3): c.244C> T (p.Pro82Ser) single nucleotide variant risk factor rs77615401 GRCh37 Chromosome 19, 55667607: 55667607
20 TNNI3 NM_000363.4(TNNI3): c.244C> T (p.Pro82Ser) single nucleotide variant risk factor rs77615401 GRCh38 Chromosome 19, 55156239: 55156239
21 TNNI3; TNNT1 NM_003283.5(TNNT1): c.-20A> G single nucleotide variant Benign/Likely benign rs9636153 GRCh37 Chromosome 19, 55660537: 55660537
22 TNNI3; TNNT1 NM_003283.5(TNNT1): c.-20A> G single nucleotide variant Benign/Likely benign rs9636153 GRCh38 Chromosome 19, 55149169: 55149169
23 TNNI3; TNNT1 NM_003283.5(TNNT1): c.35A> G (p.Glu12Gly) single nucleotide variant Benign/Likely benign rs112562759 GRCh37 Chromosome 19, 55658387: 55658387
24 TNNI3; TNNT1 NM_003283.5(TNNT1): c.35A> G (p.Glu12Gly) single nucleotide variant Benign/Likely benign rs112562759 GRCh38 Chromosome 19, 55147019: 55147019
25 PRKAG2 NM_016203.3(PRKAG2): c.1593G> A (p.Arg531=) single nucleotide variant Conflicting interpretations of pathogenicity rs148197254 GRCh37 Chromosome 7, 151257695: 151257695
26 PRKAG2 NM_016203.3(PRKAG2): c.1593G> A (p.Arg531=) single nucleotide variant Conflicting interpretations of pathogenicity rs148197254 GRCh38 Chromosome 7, 151560609: 151560609
27 PRKAG2 NM_016203.3(PRKAG2): c.298G> A (p.Gly100Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs79474211 GRCh37 Chromosome 7, 151478406: 151478406
28 PRKAG2 NM_016203.3(PRKAG2): c.298G> A (p.Gly100Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs79474211 GRCh38 Chromosome 7, 151781320: 151781320
29 PRKAG2 NM_016203.3(PRKAG2): c.879C> A (p.Phe293Leu) single nucleotide variant Likely pathogenic rs193922697 GRCh37 Chromosome 7, 151273524: 151273524
30 PRKAG2 NM_016203.3(PRKAG2): c.879C> A (p.Phe293Leu) single nucleotide variant Likely pathogenic rs193922697 GRCh38 Chromosome 7, 151576438: 151576438
31 TNNI3 NM_000363.4(TNNI3): c.12-7delC deletion Conflicting interpretations of pathogenicity rs370714315 GRCh37 Chromosome 19, 55668683: 55668683
32 TNNI3 NM_000363.4(TNNI3): c.12-7delC deletion Conflicting interpretations of pathogenicity rs370714315 GRCh38 Chromosome 19, 55157315: 55157315
33 DNAAF3; TNNI3 NM_000363.4(TNNI3): c.150+13G> A single nucleotide variant Benign/Likely benign rs73617692 GRCh37 Chromosome 19, 55667958: 55667958
34 DNAAF3; TNNI3 NM_000363.4(TNNI3): c.150+13G> A single nucleotide variant Benign/Likely benign rs73617692 GRCh38 Chromosome 19, 55156590: 55156590
35 TNNI3 NM_000363.4(TNNI3): c.198G> A (p.Glu66=) single nucleotide variant Benign/Likely benign rs3729710 GRCh37 Chromosome 19, 55667653: 55667653
36 TNNI3 NM_000363.4(TNNI3): c.198G> A (p.Glu66=) single nucleotide variant Benign/Likely benign rs3729710 GRCh38 Chromosome 19, 55156285: 55156285
37 DNAAF3; TNNI3 NM_000363.4(TNNI3): c.25-8T> A single nucleotide variant Benign/Likely benign rs3729836 GRCh37 Chromosome 19, 55668509: 55668509
38 DNAAF3; TNNI3 NM_000363.4(TNNI3): c.25-8T> A single nucleotide variant Benign/Likely benign rs3729836 GRCh38 Chromosome 19, 55157141: 55157141
39 PRKAG2 NM_016203.3(PRKAG2): c.*3G> A single nucleotide variant Benign/Likely benign rs113234987 GRCh37 Chromosome 7, 151254284: 151254284
40 PRKAG2 NM_016203.3(PRKAG2): c.*3G> A single nucleotide variant Benign/Likely benign rs113234987 GRCh38 Chromosome 7, 151557198: 151557198
41 PRKAG2 NM_016203.3(PRKAG2): c.111T> A (p.Ile37=) single nucleotide variant Conflicting interpretations of pathogenicity rs144426409 GRCh37 Chromosome 7, 151573595: 151573595
42 PRKAG2 NM_016203.3(PRKAG2): c.111T> A (p.Ile37=) single nucleotide variant Conflicting interpretations of pathogenicity rs144426409 GRCh38 Chromosome 7, 151876510: 151876510
43 PRKAG2 NM_016203.3(PRKAG2): c.114+12C> T single nucleotide variant Benign/Likely benign rs77902041 GRCh37 Chromosome 7, 151573580: 151573580
44 PRKAG2 NM_016203.3(PRKAG2): c.114+12C> T single nucleotide variant Benign/Likely benign rs77902041 GRCh38 Chromosome 7, 151876495: 151876495
45 PRKAG2 NM_016203.3(PRKAG2): c.123C> T (p.Ser41=) single nucleotide variant Conflicting interpretations of pathogenicity rs397517263 GRCh37 Chromosome 7, 151483619: 151483619
46 PRKAG2 NM_016203.3(PRKAG2): c.123C> T (p.Ser41=) single nucleotide variant Conflicting interpretations of pathogenicity rs397517263 GRCh38 Chromosome 7, 151786533: 151786533
47 PRKAG2 NM_016203.3(PRKAG2): c.1390G> A (p.Asp464Asn) single nucleotide variant Uncertain significance rs397517264 GRCh37 Chromosome 7, 151262815: 151262815
48 PRKAG2 NM_016203.3(PRKAG2): c.1390G> A (p.Asp464Asn) single nucleotide variant Uncertain significance rs397517264 GRCh38 Chromosome 7, 151565729: 151565729
49 PRKAG2 NM_016203.3(PRKAG2): c.1623T> C (p.Ile541=) single nucleotide variant Benign/Likely benign rs28763998 GRCh37 Chromosome 7, 151257665: 151257665
50 PRKAG2 NM_016203.3(PRKAG2): c.1623T> C (p.Ile541=) single nucleotide variant Benign/Likely benign rs28763998 GRCh38 Chromosome 7, 151560579: 151560579

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 cytoskeleton GO:0005856 9.5 LMOD1 LMOD2 TMOD1
2 actin filament GO:0005884 9.43 LMOD1 LMOD2 TMOD1
3 striated muscle thin filament GO:0005865 9.33 LMOD1 LMOD2 TMOD1
4 sarcomere GO:0030017 9.26 LMOD1 LMOD2 TMOD1 TNNI3
5 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 positive regulation of actin filament polymerization GO:0030838 9.37 LMOD1 LMOD2
3 muscle filament sliding GO:0030049 9.32 TMOD1 TNNI3
4 actin nucleation GO:0045010 9.26 LMOD1 LMOD2
5 myofibril assembly GO:0030239 9.13 LMOD1 LMOD2 TMOD1
6 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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10 dbSNP
11 DGIdb
17 ExPASy
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28 GO
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64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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72 Tocris
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74 UMLS via Orphanet
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