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 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:
Onset and clinical course phenotypic variability
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 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

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:

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.1040C> T (p.Thr347Met) single nucleotide variant Conflicting interpretations of pathogenicity rs727504590 GRCh38 Chromosome 1, 236739465: 236739465
2 ACTN2 NM_001103.3(ACTN2): c.1040C> T (p.Thr347Met) single nucleotide variant Conflicting interpretations of pathogenicity rs727504590 GRCh37 Chromosome 1, 236902765: 236902765
3 ACTN2 NM_001103.3(ACTN2): c.1298C> T (p.Ser433Leu) single nucleotide variant Benign rs143749154 GRCh37 Chromosome 1, 236907968: 236907968
4 ACTN2 NM_001103.3(ACTN2): c.1298C> T (p.Ser433Leu) single nucleotide variant Benign rs143749154 GRCh38 Chromosome 1, 236744668: 236744668
5 ACTN2 NM_001103.3(ACTN2): c.1519A> G (p.Met507Val) single nucleotide variant Likely benign rs144553482 GRCh37 Chromosome 1, 236912427: 236912427
6 ACTN2 NM_001103.3(ACTN2): c.1519A> G (p.Met507Val) single nucleotide variant Likely benign rs144553482 GRCh38 Chromosome 1, 236749127: 236749127
7 ACTN2 NM_001103.3(ACTN2): c.1975-6C> G single nucleotide variant Conflicting interpretations of pathogenicity rs201255023 GRCh38 Chromosome 1, 236755013: 236755013
8 ACTN2 NM_001103.3(ACTN2): c.1975-6C> G single nucleotide variant Conflicting interpretations of pathogenicity rs201255023 GRCh37 Chromosome 1, 236918313: 236918313
9 ACTN2 NM_001103.3(ACTN2): c.2161C> A (p.Arg721Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs149433837 GRCh37 Chromosome 1, 236920792: 236920792
10 ACTN2 NM_001103.3(ACTN2): c.2161C> A (p.Arg721Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs149433837 GRCh38 Chromosome 1, 236757492: 236757492
11 ACTN2 NM_001103.3(ACTN2): c.2643C> T (p.Tyr881=) single nucleotide variant Likely benign rs727505177 GRCh37 Chromosome 1, 236925877: 236925877
12 ACTN2 NM_001103.3(ACTN2): c.2643C> T (p.Tyr881=) single nucleotide variant Likely benign rs727505177 GRCh38 Chromosome 1, 236762577: 236762577
13 ACTN2 NM_001103.3(ACTN2): c.1794G> A (p.Pro598=) single nucleotide variant Benign/Likely benign rs137890030 GRCh37 Chromosome 1, 236914907: 236914907
14 ACTN2 NM_001103.3(ACTN2): c.1794G> A (p.Pro598=) single nucleotide variant Benign/Likely benign rs137890030 GRCh38 Chromosome 1, 236751607: 236751607
15 ACTN2 NM_001103.3(ACTN2): c.2063A> G (p.Tyr688Cys) single nucleotide variant Uncertain significance rs145248415 GRCh37 Chromosome 1, 236918407: 236918407
16 ACTN2 NM_001103.3(ACTN2): c.2063A> G (p.Tyr688Cys) single nucleotide variant Uncertain significance rs145248415 GRCh38 Chromosome 1, 236755107: 236755107
17 ACTN2 NM_001103.3(ACTN2): c.2367+8A> G single nucleotide variant Benign/Likely benign rs112714025 GRCh37 Chromosome 1, 236923097: 236923097
18 ACTN2 NM_001103.3(ACTN2): c.2367+8A> G single nucleotide variant Benign/Likely benign rs112714025 GRCh38 Chromosome 1, 236759797: 236759797
19 ACTN2 NM_001103.3(ACTN2): c.2555G> A (p.Arg852Gln) single nucleotide variant Uncertain significance rs727502888 GRCh37 Chromosome 1, 236925789: 236925789
20 ACTN2 NM_001103.3(ACTN2): c.2555G> A (p.Arg852Gln) single nucleotide variant Uncertain significance rs727502888 GRCh38 Chromosome 1, 236762489: 236762489
21 ACTN2 NM_001103.3(ACTN2): c.18C> A (p.Pro6=) single nucleotide variant Conflicting interpretations of pathogenicity rs368367224 GRCh37 Chromosome 1, 236849991: 236849991
22 ACTN2 NM_001103.3(ACTN2): c.18C> A (p.Pro6=) single nucleotide variant Conflicting interpretations of pathogenicity rs368367224 GRCh38 Chromosome 1, 236686691: 236686691
23 ACTN2 NM_001103.3(ACTN2): c.354C> T (p.Gly118=) single nucleotide variant Likely benign rs539250948 GRCh37 Chromosome 1, 236882306: 236882306
24 ACTN2 NM_001103.3(ACTN2): c.354C> T (p.Gly118=) single nucleotide variant Likely benign rs539250948 GRCh38 Chromosome 1, 236719006: 236719006
25 ACTN2 NM_001103.3(ACTN2): c.506G> C (p.Arg169Thr) single nucleotide variant Uncertain significance rs727505146 GRCh37 Chromosome 1, 236889290: 236889290
26 ACTN2 NM_001103.3(ACTN2): c.506G> C (p.Arg169Thr) single nucleotide variant Uncertain significance rs727505146 GRCh38 Chromosome 1, 236725990: 236725990
27 ACTN2 NM_001103.3(ACTN2): c.355G> A (p.Ala119Thr) single nucleotide variant Pathogenic rs727502886 GRCh37 Chromosome 1, 236882307: 236882307
28 ACTN2 NM_001103.3(ACTN2): c.355G> A (p.Ala119Thr) single nucleotide variant Pathogenic rs727502886 GRCh38 Chromosome 1, 236719007: 236719007
29 ACTN2 NM_001103.3(ACTN2): c.615+15C> T single nucleotide variant Benign/Likely benign rs369293885 GRCh37 Chromosome 1, 236891071: 236891071
30 ACTN2 NM_001103.3(ACTN2): c.615+15C> T single nucleotide variant Benign/Likely benign rs369293885 GRCh38 Chromosome 1, 236727771: 236727771
31 ACTN2 NM_001103.3(ACTN2): c.683T> C (p.Met228Thr) single nucleotide variant Likely pathogenic rs786205144 GRCh38 Chromosome 1, 236731300: 236731300
32 ACTN2 NM_001103.3(ACTN2): c.683T> C (p.Met228Thr) single nucleotide variant Likely pathogenic rs786205144 GRCh37 Chromosome 1, 236894600: 236894600
33 ACTN2 NM_001103.3(ACTN2): c.1312C> T (p.Arg438Trp) single nucleotide variant Uncertain significance rs563171274 GRCh38 Chromosome 1, 236744682: 236744682
34 ACTN2 NM_001103.3(ACTN2): c.1312C> T (p.Arg438Trp) single nucleotide variant Uncertain significance rs563171274 GRCh37 Chromosome 1, 236907982: 236907982
35 ACTN2 NM_001103.3(ACTN2): c.1426G> A (p.Ala476Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142943120 GRCh37 Chromosome 1, 236910986: 236910986
36 ACTN2 NM_001103.3(ACTN2): c.1426G> A (p.Ala476Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142943120 GRCh38 Chromosome 1, 236747686: 236747686
37 ACTN2 NM_001103.3(ACTN2): c.1444C> T (p.Arg482Trp) single nucleotide variant Uncertain significance rs199604590 GRCh37 Chromosome 1, 236911004: 236911004
38 ACTN2 NM_001103.3(ACTN2): c.1444C> T (p.Arg482Trp) single nucleotide variant Uncertain significance rs199604590 GRCh38 Chromosome 1, 236747704: 236747704
39 ACTN2 NM_001103.3(ACTN2): c.2552G> A (p.Arg851His) single nucleotide variant Uncertain significance rs201335965 GRCh37 Chromosome 1, 236925786: 236925786
40 ACTN2 NM_001103.3(ACTN2): c.2552G> A (p.Arg851His) single nucleotide variant Uncertain significance rs201335965 GRCh38 Chromosome 1, 236762486: 236762486
41 ACTN2 NM_001103.3(ACTN2): c.2659G> A (p.Ala887Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148972050 GRCh37 Chromosome 1, 236925893: 236925893
42 ACTN2 NM_001103.3(ACTN2): c.2659G> A (p.Ala887Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148972050 GRCh38 Chromosome 1, 236762593: 236762593
43 ACTN2 NM_001103.3(ACTN2): c.143G> C (p.Cys48Ser) single nucleotide variant Uncertain significance rs794728959 GRCh37 Chromosome 1, 236881174: 236881174
44 ACTN2 NM_001103.3(ACTN2): c.143G> C (p.Cys48Ser) single nucleotide variant Uncertain significance rs794728959 GRCh38 Chromosome 1, 236717874: 236717874
45 ACTN2 NM_001103.3(ACTN2): c.278G> A (p.Arg93Gln) single nucleotide variant Uncertain significance rs777124854 GRCh37 Chromosome 1, 236882230: 236882230
46 ACTN2 NM_001103.3(ACTN2): c.278G> A (p.Arg93Gln) single nucleotide variant Uncertain significance rs777124854 GRCh38 Chromosome 1, 236718930: 236718930
47 ACTN2 NM_001103.3(ACTN2): c.703G> A (p.Val235Met) single nucleotide variant Uncertain significance rs754929573 GRCh37 Chromosome 1, 236898940: 236898940
48 ACTN2 NM_001103.3(ACTN2): c.703G> A (p.Val235Met) single nucleotide variant Uncertain significance rs754929573 GRCh38 Chromosome 1, 236735640: 236735640
49 ACTN2 NM_001103.3(ACTN2): c.784-2A> G single nucleotide variant Uncertain significance rs794728964 GRCh37 Chromosome 1, 236900420: 236900420
50 ACTN2 NM_001103.3(ACTN2): c.784-2A> G single nucleotide variant Uncertain significance rs794728964 GRCh38 Chromosome 1, 236737120: 236737120

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....