CMH23
MCID: CRD237
MIFTS: 25

Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction (CMH23)

Categories: Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular...

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction:

Name: Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction 58
Dilated Cardiomyopathy 1aa 12 30 6
Cmd1aa 58 12 76
Cardiomyopathy, Dilated, 1aa 13 74
Cardiomyopathy, Familial Hypertrophic 23, with or Without Left Ventricular Non-Compaction 76
Cardiomyopathy, Dilated 1aa, with or Without Left Ventricular Non-Compaction 76
Dilated Cardiomyopathy 1aa with or Without Left Ventricular Noncompaction 12
Cardiomyopathy, Familial Hypertrophic 23, with or Without Lvnc 76
Cardiomyopathy, Hypertrophic, 23, with or Without Lvnc 58
Cardiomyopathy, Dilated, 1aa, with or Without Lvnc 58
Cardiomyopathy, Dilated, Type 1aa ) 41
Cmh23 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
some patients with hypertrophic cardiomyopathy progress to a dilated phenotype with severe heart failure


HPO:

33
cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular...

UniProtKB/Swiss-Prot : 76 Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction: 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.

MalaCards based summary : Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction, is also known as dilated cardiomyopathy 1aa. An important gene associated with Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction is ACTN2 (Actinin Alpha 2). Affiliated tissues include heart and testes, and related phenotypes are atrioventricular block and left ventricular hypertrophy

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the ACTN2 gene on chromosome 1q43.

Description from OMIM: 612158

Related Diseases for Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular...

Diseases in the Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction family:

Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular...

Human phenotypes related to Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 atrioventricular block 33 occasional (7.5%) HP:0001678
2 left ventricular hypertrophy 33 occasional (7.5%) HP:0001712
3 cardiac arrest 33 occasional (7.5%) HP:0001695
4 atrial fibrillation 33 occasional (7.5%) HP:0005110
5 supraventricular tachycardia 33 occasional (7.5%) HP:0004755
6 left ventricular noncompaction 33 occasional (7.5%) HP:0030682
7 dilated cardiomyopathy 33 HP:0001644
8 endocardial fibroelastosis 33 HP:0001706
9 cardiomyocyte hypertrophy 33 HP:0031319
10 endocardial fibrosis 33 HP:0006685

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
cardiomyocyte hypertrophy
left ventricular hypertrophy (in some patients)
atrial fibrillation (in some patients)
left ventricular noncompaction (in some patients)
endocardial fibrosis
more

Clinical features from OMIM:

612158

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular...

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction

Genetic Tests for Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular...

Genetic tests related to Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1aa 30 ACTN2

Anatomical Context for Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular...

MalaCards organs/tissues related to Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction:

42
Heart, Testes

Publications for Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular...

Articles related to Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction:

# Title Authors Year
1
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). ( 25173338 )
2014
2
Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study. ( 25173926 )
2014
3
Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death. ( 25224718 )
2014
4
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). ( 21810866 )
2011
5
Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. ( 20022194 )
2010
6
Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy. ( 17097056 )
2006
7
Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. ( 14567970 )
2003
8
American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. ( 14607462 )
2003

Variations for Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular...

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction:

76
# Symbol AA change Variation ID SNP ID
1 ACTN2 p.Gln9Arg VAR_054628 rs121434525
2 ACTN2 p.Ala119Thr VAR_071970 rs727502886
3 ACTN2 p.Thr495Met VAR_071971 rs200248944
4 ACTN2 p.Glu583Ala VAR_071972 rs200631005
5 ACTN2 p.Glu628Gly VAR_071973 rs786204951
6 ACTN2 p.Met228Thr VAR_074292 rs786205144

ClinVar genetic disease variations for Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction:

6 (show top 50) (show all 438)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTN2 NM_001103.3(ACTN2): c.26A> G (p.Gln9Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121434525 GRCh37 Chromosome 1, 236849999: 236849999
2 ACTN2 NM_001103.3(ACTN2): c.26A> G (p.Gln9Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121434525 GRCh38 Chromosome 1, 236686699: 236686699
3 ACTN2 NM_001103.3(ACTN2): c.2139G> A (p.Thr713Thr=) single nucleotide variant Benign/Likely benign rs34975493 GRCh37 Chromosome 1, 236918483: 236918483
4 ACTN2 NM_001103.3(ACTN2): c.2139G> A (p.Thr713Thr=) single nucleotide variant Benign/Likely benign rs34975493 GRCh38 Chromosome 1, 236755183: 236755183
5 ACTN2 NM_001103.3(ACTN2): c.2147C> T (p.Thr716Met) single nucleotide variant Conflicting interpretations of pathogenicity rs193922635 GRCh37 Chromosome 1, 236918491: 236918491
6 ACTN2 NM_001103.3(ACTN2): c.2147C> T (p.Thr716Met) single nucleotide variant Conflicting interpretations of pathogenicity rs193922635 GRCh38 Chromosome 1, 236755191: 236755191
7 ACTN2 NM_001103.3(ACTN2): c.1057C> T (p.Arg353Trp) single nucleotide variant Uncertain significance rs1150181 GRCh37 Chromosome 1, 236902782: 236902782
8 ACTN2 NM_001103.3(ACTN2): c.1057C> T (p.Arg353Trp) single nucleotide variant Uncertain significance rs1150181 GRCh38 Chromosome 1, 236739482: 236739482
9 ACTN2 NM_001103.3(ACTN2): c.1235C> T (p.Thr412Met) single nucleotide variant Conflicting interpretations of pathogenicity rs139515659 GRCh37 Chromosome 1, 236906323: 236906323
10 ACTN2 NM_001103.3(ACTN2): c.1235C> T (p.Thr412Met) single nucleotide variant Conflicting interpretations of pathogenicity rs139515659 GRCh38 Chromosome 1, 236743023: 236743023
11 ACTN2 NM_001103.3(ACTN2): c.1296G> A (p.Ala432=) single nucleotide variant Benign/Likely benign rs35956798 GRCh37 Chromosome 1, 236907966: 236907966
12 ACTN2 NM_001103.3(ACTN2): c.1296G> A (p.Ala432=) single nucleotide variant Benign/Likely benign rs35956798 GRCh38 Chromosome 1, 236744666: 236744666
13 ACTN2 NM_001103.3(ACTN2): c.1341C> T (p.Phe447=) single nucleotide variant Benign/Likely benign rs34785693 GRCh37 Chromosome 1, 236908011: 236908011
14 ACTN2 NM_001103.3(ACTN2): c.1341C> T (p.Phe447=) single nucleotide variant Benign/Likely benign rs34785693 GRCh38 Chromosome 1, 236744711: 236744711
15 ACTN2 NM_001103.3(ACTN2): c.1371C> T (p.Arg457=) single nucleotide variant Conflicting interpretations of pathogenicity rs114008185 GRCh37 Chromosome 1, 236908041: 236908041
16 ACTN2 NM_001103.3(ACTN2): c.1371C> T (p.Arg457=) single nucleotide variant Conflicting interpretations of pathogenicity rs114008185 GRCh38 Chromosome 1, 236744741: 236744741
17 ACTN2 NM_001103.3(ACTN2): c.1383C> T (p.Ile461=) single nucleotide variant Conflicting interpretations of pathogenicity rs34827377 GRCh37 Chromosome 1, 236908053: 236908053
18 ACTN2 NM_001103.3(ACTN2): c.1383C> T (p.Ile461=) single nucleotide variant Conflicting interpretations of pathogenicity rs34827377 GRCh38 Chromosome 1, 236744753: 236744753
19 ACTN2 NM_001103.3(ACTN2): c.1384G> T (p.Ala462Ser) single nucleotide variant Uncertain significance rs376923220 GRCh37 Chromosome 1, 236908054: 236908054
20 ACTN2 NM_001103.3(ACTN2): c.1384G> T (p.Ala462Ser) single nucleotide variant Uncertain significance rs376923220 GRCh38 Chromosome 1, 236744754: 236744754
21 ACTN2 NM_001103.3(ACTN2): c.1406+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs397516567 GRCh37 Chromosome 1, 236908084: 236908084
22 ACTN2 NM_001103.3(ACTN2): c.1406+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs397516567 GRCh38 Chromosome 1, 236744784: 236744784
23 ACTN2 NM_001103.3(ACTN2): c.1423G> A (p.Asp475Asn) single nucleotide variant Benign/Likely benign rs80257412 GRCh37 Chromosome 1, 236910983: 236910983
24 ACTN2 NM_001103.3(ACTN2): c.1423G> A (p.Asp475Asn) single nucleotide variant Benign/Likely benign rs80257412 GRCh38 Chromosome 1, 236747683: 236747683
25 ACTN2 NM_001103.3(ACTN2): c.1452G> A (p.Gln484=) single nucleotide variant Conflicting interpretations of pathogenicity rs200529923 GRCh37 Chromosome 1, 236911012: 236911012
26 ACTN2 NM_001103.3(ACTN2): c.1452G> A (p.Gln484=) single nucleotide variant Conflicting interpretations of pathogenicity rs200529923 GRCh38 Chromosome 1, 236747712: 236747712
27 ACTN2 NM_001103.3(ACTN2): c.1476A> T (p.Arg492=) single nucleotide variant Likely benign rs397516569 GRCh37 Chromosome 1, 236911036: 236911036
28 ACTN2 NM_001103.3(ACTN2): c.1476A> T (p.Arg492=) single nucleotide variant Likely benign rs397516569 GRCh38 Chromosome 1, 236747736: 236747736
29 ACTN2 NM_001103.3(ACTN2): c.1484C> T (p.Thr495Met) single nucleotide variant Uncertain significance rs200248944 GRCh37 Chromosome 1, 236911044: 236911044
30 ACTN2 NM_001103.3(ACTN2): c.1484C> T (p.Thr495Met) single nucleotide variant Uncertain significance rs200248944 GRCh38 Chromosome 1, 236747744: 236747744
31 ACTN2 NM_001103.3(ACTN2): c.1484C> T (p.Thr495Met) single nucleotide variant Uncertain significance rs200248944 NCBI36 Chromosome 1, 234977667: 234977667
32 ACTN2 NM_001103.3(ACTN2): c.1714C> T (p.Arg572Trp) single nucleotide variant Uncertain significance rs142142718 GRCh37 Chromosome 1, 236914827: 236914827
33 ACTN2 NM_001103.3(ACTN2): c.1714C> T (p.Arg572Trp) single nucleotide variant Uncertain significance rs142142718 GRCh38 Chromosome 1, 236751527: 236751527
34 ACTN2 NM_001103.3(ACTN2): c.1810A> G (p.Met604Val) single nucleotide variant Benign/Likely benign rs35997569 GRCh37 Chromosome 1, 236914923: 236914923
35 ACTN2 NM_001103.3(ACTN2): c.870G> A (p.Ala290=) single nucleotide variant Benign rs116464082 GRCh37 Chromosome 1, 236900508: 236900508
36 ACTN2 NM_001103.3(ACTN2): c.1810A> G (p.Met604Val) single nucleotide variant Benign/Likely benign rs35997569 GRCh38 Chromosome 1, 236751623: 236751623
37 ACTN2 NM_001103.3(ACTN2): c.1822C> T (p.Arg608Trp) single nucleotide variant Uncertain significance rs397516571 GRCh37 Chromosome 1, 236914935: 236914935
38 ACTN2 NM_001103.3(ACTN2): c.1822C> T (p.Arg608Trp) single nucleotide variant Uncertain significance rs397516571 GRCh38 Chromosome 1, 236751635: 236751635
39 ACTN2 NM_001103.3(ACTN2): c.1864G> A (p.Asp622Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs138452803 GRCh37 Chromosome 1, 236917271: 236917271
40 ACTN2 NM_001103.3(ACTN2): c.1864G> A (p.Asp622Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs138452803 GRCh38 Chromosome 1, 236753971: 236753971
41 ACTN2 NM_001103.3(ACTN2): c.18C> T (p.Pro6=) single nucleotide variant Likely benign rs368367224 GRCh37 Chromosome 1, 236849991: 236849991
42 ACTN2 NM_001103.3(ACTN2): c.18C> T (p.Pro6=) single nucleotide variant Likely benign rs368367224 GRCh38 Chromosome 1, 236686691: 236686691
43 ACTN2 NM_001103.3(ACTN2): c.1930G> A (p.Ala644Thr) single nucleotide variant Uncertain significance rs146164600 GRCh37 Chromosome 1, 236917337: 236917337
44 ACTN2 NM_001103.3(ACTN2): c.1930G> A (p.Ala644Thr) single nucleotide variant Uncertain significance rs146164600 GRCh38 Chromosome 1, 236754037: 236754037
45 ACTN2 NM_001103.3(ACTN2): c.1932C> A (p.Ala644=) single nucleotide variant Benign rs144680712 GRCh37 Chromosome 1, 236917339: 236917339
46 ACTN2 NM_001103.3(ACTN2): c.1932C> A (p.Ala644=) single nucleotide variant Benign rs144680712 GRCh38 Chromosome 1, 236754039: 236754039
47 ACTN2 NM_001103.3(ACTN2): c.2052C> T (p.Asn684=) single nucleotide variant Likely benign rs202135204 GRCh37 Chromosome 1, 236918396: 236918396
48 ACTN2 NM_001103.3(ACTN2): c.2052C> T (p.Asn684=) single nucleotide variant Likely benign rs202135204 GRCh38 Chromosome 1, 236755096: 236755096
49 ACTN2 NM_001103.3(ACTN2): c.2076C> T (p.Ile692=) single nucleotide variant Benign/Likely benign rs144122893 GRCh37 Chromosome 1, 236918420: 236918420
50 ACTN2 NM_001103.3(ACTN2): c.2076C> T (p.Ile692=) single nucleotide variant Benign/Likely benign rs144122893 GRCh38 Chromosome 1, 236755120: 236755120

Expression for Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular...

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction.

Pathways for Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular...

GO Terms for Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular...

Sources for Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular...

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