CMD1AA
MCID: CRD237
MIFTS: 22

Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction (CMD1AA)

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 57
Dilated Cardiomyopathy 1aa 12 29 6
Cmd1aa 57 12 75
Cardiomyopathy, Dilated, 1aa 13 73
Cardiomyopathy, Familial Hypertrophic 23, with or Without Left Ventricular Non-Compaction 75
Cardiomyopathy, Dilated 1aa, with or Without Left Ventricular Non-Compaction 75
Dilated Cardiomyopathy 1aa with or Without Left Ventricular Noncompaction 12
Cardiomyopathy, Familial Hypertrophic 23, with or Without Lvnc 75
Cardiomyopathy, Hypertrophic, 23, with or Without Lvnc 57
Cardiomyopathy, Dilated, 1aa, with or Without Lvnc 57
Cardiomyopathy, Dilated, Type 1aa 40
Cmh23 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 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 related phenotypes are atrioventricular block and dilated cardiomyopathy

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...

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 atrioventricular block 32 occasional (7.5%) HP:0001678
2 dilated cardiomyopathy 32 HP:0001644
3 left ventricular hypertrophy 32 occasional (7.5%) HP:0001712
4 cardiac arrest 32 occasional (7.5%) HP:0001695
5 atrial fibrillation 32 occasional (7.5%) HP:0005110
6 supraventricular tachycardia 32 occasional (7.5%) HP:0004755
7 endocardial fibroelastosis 32 HP:0001706
8 cardiomyocyte hypertrophy 32 HP:0031319
9 endocardial fibrosis 32 HP:0006685
10 left ventricular noncompaction 32 occasional (7.5%) HP:0030682

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 29 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:

41
Heart

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

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:

75
# 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 436)
# 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.1810A> G (p.Met604Val) single nucleotide variant Benign/Likely benign rs35997569 GRCh38 Chromosome 1, 236751623: 236751623
36 ACTN2 NM_001103.3(ACTN2): c.1822C> T (p.Arg608Trp) single nucleotide variant Uncertain significance rs397516571 GRCh37 Chromosome 1, 236914935: 236914935
37 ACTN2 NM_001103.3(ACTN2): c.1822C> T (p.Arg608Trp) single nucleotide variant Uncertain significance rs397516571 GRCh38 Chromosome 1, 236751635: 236751635
38 ACTN2 NM_001103.3(ACTN2): c.1864G> A (p.Asp622Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs138452803 GRCh37 Chromosome 1, 236917271: 236917271
39 ACTN2 NM_001103.3(ACTN2): c.1864G> A (p.Asp622Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs138452803 GRCh38 Chromosome 1, 236753971: 236753971
40 ACTN2 NM_001103.3(ACTN2): c.18C> T (p.Pro6=) single nucleotide variant Likely benign rs368367224 GRCh37 Chromosome 1, 236849991: 236849991
41 ACTN2 NM_001103.3(ACTN2): c.18C> T (p.Pro6=) single nucleotide variant Likely benign rs368367224 GRCh38 Chromosome 1, 236686691: 236686691
42 ACTN2 NM_001103.3(ACTN2): c.1930G> A (p.Ala644Thr) single nucleotide variant Uncertain significance rs146164600 GRCh37 Chromosome 1, 236917337: 236917337
43 ACTN2 NM_001103.3(ACTN2): c.1930G> A (p.Ala644Thr) single nucleotide variant Uncertain significance rs146164600 GRCh38 Chromosome 1, 236754037: 236754037
44 ACTN2 NM_001103.3(ACTN2): c.1932C> A (p.Ala644=) single nucleotide variant Benign rs144680712 GRCh37 Chromosome 1, 236917339: 236917339
45 ACTN2 NM_001103.3(ACTN2): c.1932C> A (p.Ala644=) single nucleotide variant Benign rs144680712 GRCh38 Chromosome 1, 236754039: 236754039
46 ACTN2 NM_001103.3(ACTN2): c.2052C> T (p.Asn684=) single nucleotide variant Likely benign rs202135204 GRCh37 Chromosome 1, 236918396: 236918396
47 ACTN2 NM_001103.3(ACTN2): c.2052C> T (p.Asn684=) single nucleotide variant Likely benign rs202135204 GRCh38 Chromosome 1, 236755096: 236755096
48 ACTN2 NM_001103.3(ACTN2): c.2076C> T (p.Ile692=) single nucleotide variant Benign/Likely benign rs144122893 GRCh37 Chromosome 1, 236918420: 236918420
49 ACTN2 NM_001103.3(ACTN2): c.2076C> T (p.Ile692=) single nucleotide variant Benign/Likely benign rs144122893 GRCh38 Chromosome 1, 236755120: 236755120
50 ACTN2 NM_001103.3(ACTN2): c.2323C> T (p.His775Tyr) single nucleotide variant Uncertain significance rs370677725 GRCh37 Chromosome 1, 236923045: 236923045

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....