CMD1AA
MCID: CRD237
MIFTS: 29

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 72
Cardiomyopathy, Hypertrophic, 23, with or Without Lvnc 57 29
Cardiomyopathy, Dilated, 1aa, with or Without Lvnc 57 29
Cardiomyopathy, Dilated, 1aa 13 70
Cardiomyopathy, Familial Hypertrophic 23, with or Without Left Ventricular Non-Compaction 72
Cardiomyopathy, Dilated 1aa, with or Without Left Ventricular Non-Compaction 72
Dilated Cardiomyopathy 1aa with or Without Left Ventricular Noncompaction 12
Cardiomyopathy, Familial Hypertrophic 23, with or Without Lvnc 72
Cardiomyopathy, Dilated, Type 1aa 39
Cmh23 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110428
OMIM® 57 612158
OMIM Phenotypic Series 57 PS115200 PS192600
ICD10 32 I42.0
MedGen 41 C2677338
UMLS 70 C2677338

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

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 612158 PS115200 PS192600

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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 atrioventricular block 31 occasional (7.5%) HP:0001678
2 left ventricular hypertrophy 31 occasional (7.5%) HP:0001712
3 atrial fibrillation 31 occasional (7.5%) HP:0005110
4 cardiac arrest 31 occasional (7.5%) HP:0001695
5 supraventricular tachycardia 31 occasional (7.5%) HP:0004755
6 left ventricular noncompaction 31 occasional (7.5%) HP:0030682
7 dilated cardiomyopathy 31 HP:0001644
8 endocardial fibroelastosis 31 HP:0001706
9 cardiomyocyte hypertrophy 31 HP:0031319
10 endocardial fibrosis 31 HP:0006685

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
cardiomyocyte hypertrophy
endocardial fibrosis
left ventricular hypertrophy (in some patients)
atrial fibrillation (in some patients)
left ventricular noncompaction (in some patients)
more

Clinical features from OMIM®:

612158 (Updated 20-May-2021)

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
2 Cardiomyopathy, Dilated, 1aa, with or Without Lvnc 29
3 Cardiomyopathy, Hypertrophic, 23, with or Without Lvnc 29

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:

40
Heart

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

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

# Title Authors PMID Year
1
Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study. 6 57
25173926 2014
2
Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death. 6 57
25224718 2014
3
Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. 6 57
20022194 2010
4
Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy. 6 57
17097056 2006
5
Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. 6 57
14567970 2003
6
Hypertrophic cardiomyopathy mutations in the calponin-homology domain of ACTN2 affect actin binding and cardiomyocyte Z-disc incorporation. 6
27287556 2016

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

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

6 (show top 50) (show all 501)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACTN2 NM_001103.3(ACTN2):c.683T>C (p.Met228Thr) SNV Pathogenic 189519 rs786205144 GRCh37: 1:236894600-236894600
GRCh38: 1:236731300-236731300
2 ACTN2 NM_001103.3(ACTN2):c.355G>A (p.Ala119Thr) SNV Pathogenic 162727 rs727502886 GRCh37: 1:236882307-236882307
GRCh38: 1:236719007-236719007
3 ACTN2 NM_001103.3(ACTN2):c.355G>A (p.Ala119Thr) SNV Likely pathogenic 162727 rs727502886 GRCh37: 1:236882307-236882307
GRCh38: 1:236719007-236719007
4 ACTN2 NM_001103.4(ACTN2):c.229G>T (p.Glu77Ter) SNV Likely pathogenic 829879 rs1572112489 GRCh37: 1:236881260-236881260
GRCh38: 1:236717960-236717960
5 ACTN2 NM_001103.3(ACTN2):c.983G>A (p.Arg328Gln) SNV Uncertain significance 296503 rs774046373 GRCh37: 1:236902708-236902708
GRCh38: 1:236739408-236739408
6 ACTN2 NM_001103.4(ACTN2):c.1862G>A (p.Arg621His) SNV Uncertain significance 834394 GRCh37: 1:236917269-236917269
GRCh38: 1:236753969-236753969
7 ACTN2 NM_001103.3(ACTN2):c.1358C>T (p.Ala453Val) SNV Uncertain significance 191594 rs566860712 GRCh37: 1:236908028-236908028
GRCh38: 1:236744728-236744728
8 ACTN2 NM_001103.4(ACTN2):c.1135G>A (p.Glu379Lys) SNV Uncertain significance 836270 GRCh37: 1:236906223-236906223
GRCh38: 1:236742923-236742923
9 ACTN2 NM_001103.4(ACTN2):c.740C>T (p.Thr247Met) SNV Uncertain significance 837873 GRCh37: 1:236898977-236898977
GRCh38: 1:236735677-236735677
10 ACTN2 NM_001103.3(ACTN2):c.926C>T (p.Pro309Leu) SNV Uncertain significance 201636 rs146568303 GRCh37: 1:236902651-236902651
GRCh38: 1:236739351-236739351
11 ACTN2 NM_001103.4(ACTN2):c.2477A>T (p.Asp826Val) SNV Uncertain significance 839899 GRCh37: 1:236924424-236924424
GRCh38: 1:236761124-236761124
12 ACTN2 NM_001103.3(ACTN2):c.1771A>G (p.Ile591Val) SNV Uncertain significance 390309 rs377650301 GRCh37: 1:236914884-236914884
GRCh38: 1:236751584-236751584
13 ACTN2 NM_001103.4(ACTN2):c.6C>A (p.Asn2Lys) SNV Uncertain significance 841322 GRCh37: 1:236849979-236849979
GRCh38: 1:236686679-236686679
14 ACTN2 NM_001103.3(ACTN2):c.1516A>G (p.Arg506Gly) SNV Uncertain significance 201640 GRCh37: 1:236912424-236912424
GRCh38: 1:236749124-236749124
15 ACTN2 NM_001103.4(ACTN2):c.1_6del (p.Met1_Asn2del) Deletion Uncertain significance 846012 GRCh37: 1:236849973-236849978
GRCh38: 1:236686673-236686678
16 ACTN2 NM_001103.3(ACTN2):c.1108-3C>T SNV Uncertain significance 179008 rs372488913 GRCh37: 1:236906193-236906193
GRCh38: 1:236742893-236742893
17 ACTN2 NM_001103.3(ACTN2):c.575G>A (p.Arg192Gln) SNV Uncertain significance 191592 rs200316891 GRCh37: 1:236891016-236891016
GRCh38: 1:236727716-236727716
18 ACTN2 NM_001103.4(ACTN2):c.697G>A (p.Asp233Asn) SNV Uncertain significance 850140 GRCh37: 1:236894614-236894614
GRCh38: 1:236731314-236731314
19 ACTN2 NM_001103.4(ACTN2):c.1313G>A (p.Arg438Gln) SNV Uncertain significance 850370 GRCh37: 1:236907983-236907983
GRCh38: 1:236744683-236744683
20 ACTN2 NM_001103.4(ACTN2):c.2387G>A (p.Arg796His) SNV Uncertain significance 852397 GRCh37: 1:236924334-236924334
GRCh38: 1:236761034-236761034
21 ACTN2 NM_001103.4(ACTN2):c.1910G>A (p.Arg637His) SNV Uncertain significance 852581 GRCh37: 1:236917317-236917317
GRCh38: 1:236754017-236754017
22 ACTN2 NM_001103.3(ACTN2):c.1799G>A (p.Ser600Asn) SNV Uncertain significance 201643 rs794728968 GRCh37: 1:236914912-236914912
GRCh38: 1:236751612-236751612
23 ACTN2 NM_001103.4(ACTN2):c.1891C>T (p.Arg631Cys) SNV Uncertain significance 853390 GRCh37: 1:236917298-236917298
GRCh38: 1:236753998-236753998
24 ACTN2 NM_001103.3(ACTN2):c.1295C>T (p.Ala432Val) SNV Uncertain significance 384968 rs767291633 GRCh37: 1:236907965-236907965
GRCh38: 1:236744665-236744665
25 ACTN2 NM_001103.4(ACTN2):c.2423C>G (p.Thr808Ser) SNV Uncertain significance 853672 GRCh37: 1:236924370-236924370
GRCh38: 1:236761070-236761070
26 ACTN2 NM_001103.4(ACTN2):c.1907A>G (p.Glu636Gly) SNV Uncertain significance 854205 GRCh37: 1:236917314-236917314
GRCh38: 1:236754014-236754014
27 ACTN2 NM_001103.3(ACTN2):c.1058G>A (p.Arg353Gln) SNV Uncertain significance 520348 rs780552939 GRCh37: 1:236902783-236902783
GRCh38: 1:236739483-236739483
28 ACTN2 NM_001103.4(ACTN2):c.2278G>A (p.Ala760Thr) SNV Uncertain significance 854962 GRCh37: 1:236920909-236920909
GRCh38: 1:236757609-236757609
29 ACTN2 NM_001103.3(ACTN2):c.2054T>C (p.Ile685Thr) SNV Uncertain significance 388855 rs1057523250 GRCh37: 1:236918398-236918398
GRCh38: 1:236755098-236755098
30 ACTN2 NM_001103.4(ACTN2):c.1699G>A (p.Glu567Lys) SNV Uncertain significance 855334 GRCh37: 1:236914812-236914812
GRCh38: 1:236751512-236751512
31 ACTN2 NM_001103.4(ACTN2):c.32A>G (p.Asn11Ser) SNV Uncertain significance 857315 GRCh37: 1:236850005-236850005
GRCh38: 1:236686705-236686705
32 ACTN2 NM_001103.4(ACTN2):c.1384G>A (p.Ala462Thr) SNV Uncertain significance 858416 GRCh37: 1:236908054-236908054
GRCh38: 1:236744754-236744754
33 ACTN2 NM_001103.4(ACTN2):c.1090G>A (p.Glu364Lys) SNV Uncertain significance 858522 GRCh37: 1:236902815-236902815
GRCh38: 1:236739515-236739515
34 ACTN2 NM_001103.4(ACTN2):c.550C>T (p.Leu184Phe) SNV Uncertain significance 858812 GRCh37: 1:236890991-236890991
GRCh38: 1:236727691-236727691
35 ACTN2 NM_001103.3(ACTN2):c.2161C>T (p.Arg721Cys) SNV Uncertain significance 201646 rs149433837 GRCh37: 1:236920792-236920792
GRCh38: 1:236757492-236757492
36 ACTN2 NM_001103.4(ACTN2):c.698-10_1107+10del Deletion Uncertain significance 860800 GRCh37: 1:236898925-236902842
GRCh38: 1:236735625-236739542
37 ACTN2 NM_001103.4(ACTN2):c.1439A>G (p.Asn480Ser) SNV Uncertain significance 862689 GRCh37: 1:236910999-236910999
GRCh38: 1:236747699-236747699
38 ACTN2 NM_001103.3(ACTN2):c.1708G>A (p.Gly570Arg) SNV Uncertain significance 373132 rs373132971 GRCh37: 1:236914821-236914821
GRCh38: 1:236751521-236751521
39 ACTN2 NM_001103.4(ACTN2):c.1703C>G (p.Ala568Gly) SNV Uncertain significance 863792 GRCh37: 1:236914816-236914816
GRCh38: 1:236751516-236751516
40 ACTN2 NM_001103.4(ACTN2):c.971G>C (p.Arg324Pro) SNV Uncertain significance 863975 GRCh37: 1:236902696-236902696
GRCh38: 1:236739396-236739396
41 ACTN2 NM_001103.3(ACTN2):c.1547A>G (p.Gln516Arg) SNV Uncertain significance 570402 rs1272875116 GRCh37: 1:236912455-236912455
GRCh38: 1:236749155-236749155
42 ACTN2 NM_001103.3(ACTN2):c.1358C>G (p.Ala453Gly) SNV Uncertain significance 570417 rs566860712 GRCh37: 1:236908028-236908028
GRCh38: 1:236744728-236744728
43 ACTN2 NM_001103.3(ACTN2):c.2530T>C (p.Tyr844His) SNV Uncertain significance 570491 rs1558252775 GRCh37: 1:236925764-236925764
GRCh38: 1:236762464-236762464
44 ACTN2 NM_001103.3(ACTN2):c.646A>G (p.Met216Val) SNV Uncertain significance 296499 rs749019847 GRCh37: 1:236894563-236894563
GRCh38: 1:236731263-236731263
45 ACTN2 NM_001103.3(ACTN2):c.1057C>T (p.Arg353Trp) SNV Uncertain significance 43893 rs1150181 GRCh37: 1:236902782-236902782
GRCh38: 1:236739482-236739482
46 ACTN2 NM_001103.3(ACTN2):c.2668G>A (p.Gly890Arg) SNV Uncertain significance 573987 rs536297856 GRCh37: 1:236925902-236925902
GRCh38: 1:236762602-236762602
47 ACTN2 NM_001103.3(ACTN2):c.774C>T (p.Gly258=) SNV Uncertain significance 574173 rs776005605 GRCh37: 1:236899011-236899011
GRCh38: 1:236735711-236735711
48 ACTN2 NM_001103.3(ACTN2):c.1325G>A (p.Arg442Gln) SNV Uncertain significance 574214 rs776947613 GRCh37: 1:236907995-236907995
GRCh38: 1:236744695-236744695
49 ACTN2 NM_001103.3(ACTN2):c.1212G>T (p.Glu404Asp) SNV Uncertain significance 574841 rs1379352019 GRCh37: 1:236906300-236906300
GRCh38: 1:236743000-236743000
50 ACTN2 NM_001103.3(ACTN2):c.1952C>T (p.Pro651Leu) SNV Uncertain significance 575198 rs752552408 GRCh37: 1:236917359-236917359
GRCh38: 1:236754059-236754059

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

72
# 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

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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