CMD2A
MCID: CRD063
MIFTS: 27

Cardiomyopathy, Dilated, 2a (CMD2A) malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases, Neuronal diseases, Ear diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 2a

Aliases & Descriptions for Cardiomyopathy, Dilated, 2a:

Name: Cardiomyopathy, Dilated, 2a 54 13 69
Cardiomyopathy, Dilated 2a 66 29
Cmd2a 12 66
Dilated Cardiomyopathy 2a 12

Characteristics:

HPO:

32
cardiomyopathy, dilated, 2a:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset young adult onset


Classifications:



External Ids:

OMIM 54 611880
Disease Ontology 12 DOID:0110460
ICD10 33 I42.0
MedGen 40 C2678474
MeSH 42 D002311

Summaries for Cardiomyopathy, Dilated, 2a

UniProtKB/Swiss-Prot : 66 Cardiomyopathy, dilated 2A: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

MalaCards based summary : Cardiomyopathy, Dilated, 2a, also known as cardiomyopathy, dilated 2a, is related to tnni3-related dilated cardiomyopathy and cardiomyopathy, dilated, 1a, and has symptoms including congestive heart failure and dilated cardiomyopathy. An important gene associated with Cardiomyopathy, Dilated, 2a is TNNI3 (Troponin I3, Cardiac Type). The drugs Eplerenone and Spironolactone have been mentioned in the context of this disorder. Affiliated tissues include heart.

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.

Description from OMIM: 611880

Related Diseases for Cardiomyopathy, Dilated, 2a

Diseases in the Cardiomyopathy family:

Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1a
Cardiomyopathy, Dilated, 1v Cardiomyopathy, Dilated, 1d
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1i Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 1z Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1gg Cardiomyopathy, Dilated, 1l
Cardiomyopathy, Dilated, 1k Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1p Cardiomyopathy, Dilated, 1j
Cardiomyopathy, Dilated, 2b Cardiomyopathy, Dilated, 1q
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1kk
Cardiomyopathy, Dilated, 1w Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1o
Cardiomyopathy, Dilated, 1t Cardiomyopathy, Dilated, 1ee
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1r
Cardiomyopathy, Dilated, 1bb Cardiomyopathy, Dilated, 2a
Cardiomyopathy, Dilated, 1ff Cardiomyopathy, Dilated, 3b
Dilated Cardiomyopathy Dmd-Related Dilated Cardiomyopathy
Dilated Cardiomyopathy 1c Dilated Cardiomyopathy 1aa
Dilated Cardiomyopathy 1b Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Mypn-Related Cardiomyopathy
Abcc9-Related Dilated Cardiomyopathy Actc1-Related Dilated Cardiomyopathy
Actn2-Related Dilated Cardiomyopathy Ankrd1-Related Dilated Cardiomyopathy
Bag3-Related Dilated Cardiomyopathy Cryab-Related Dilated Cardiomyopathy
Csrp3-Related Dilated Cardiomyopathy Des-Related Dilated Cardiomyopathy
Dsg2-Related Dilated Cardiomyopathy Eya4-Related Dilated Cardiomyopathy
Fktn-Related Dilated Cardiomyopathy Gatad1-Related Dilated Cardiomyopathy
Lama4-Related Dilated Cardiomyopathy Ldb3-Related Dilated Cardiomyopathy
Mybpc3-Related Dilated Cardiomyopathy Myh6-Related Dilated Cardiomyopathy
Myh7-Related Dilated Cardiomyopathy Nexn-Related Dilated Cardiomyopathy
Pln-Related Dilated Cardiomyopathy Prdm16-Related Dilated Cardiomyopathy
Psen1-Related Dilated Cardiomyopathy Psen2-Related Dilated Cardiomyopathy
Rbm20-Related Dilated Cardiomyopathy Scn5a-Related Dilated Cardiomyopathy
Sdha-Related Dilated Cardiomyopathy Sgcd-Related Dilated Cardiomyopathy
Taz-Related Dilated Cardiomyopathy Tcap-Related Dilated Cardiomyopathy
Tmpo-Related Dilated Cardiomyopathy Tnnc1-Related Dilated Cardiomyopathy
Tnni3-Related Dilated Cardiomyopathy Tnnt2-Related Dilated Cardiomyopathy
Tpm1-Related Dilated Cardiomyopathy Ttn-Related Dilated Cardiomyopathy
Vcl-Related Dilated Cardiomyopathy

Diseases related to Cardiomyopathy, Dilated, 2a via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 tnni3-related dilated cardiomyopathy 11.0
2 cardiomyopathy, dilated, 1a 10.9

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 2a

Symptoms by clinical synopsis from OMIM:

611880

Clinical features from OMIM:

611880

Human phenotypes related to Cardiomyopathy, Dilated, 2a:

32
id Description HPO Frequency HPO Source Accession
1 congestive heart failure 32 HP:0001635
2 dilated cardiomyopathy 32 HP:0001644

Drugs & Therapeutics for Cardiomyopathy, Dilated, 2a

Drugs for Cardiomyopathy, Dilated, 2a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eplerenone Approved Phase 3 107724-20-9 150310 443872
2
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
3 diuretics Phase 3
4 Diuretics, Potassium Sparing Phase 3
5 Hormone Antagonists Phase 3
6 Hormones Phase 3
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
8 Mineralocorticoid Receptor Antagonists Phase 3
9 Mineralocorticoids Phase 3
10 Natriuretic Agents Phase 3
11
Adenosine Approved, Investigational Phase 1, Phase 2 58-61-7 60961

Interventional clinical trials:


id Name Status NCT ID Phase
1 PHOspholamban RElated CArdiomyopathy STudy - Intervention Recruiting NCT01857856 Phase 3
2 Efficacy and Safety Study of Genetically Targeted Enzyme Replacement Therapy for Advanced Heart Failure Completed NCT00454818 Phase 1, Phase 2
3 Mayo AVC Registry and BioBank Enrolling by invitation NCT03049254

Search NIH Clinical Center for Cardiomyopathy, Dilated, 2a

Genetic Tests for Cardiomyopathy, Dilated, 2a

Genetic tests related to Cardiomyopathy, Dilated, 2a:

id Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 2a 29

Anatomical Context for Cardiomyopathy, Dilated, 2a

MalaCards organs/tissues related to Cardiomyopathy, Dilated, 2a:

39
Heart

Publications for Cardiomyopathy, Dilated, 2a

Variations for Cardiomyopathy, Dilated, 2a

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 2a:

66
id Symbol AA change Variation ID SNP ID
1 TNNI3 p.Ala2Val VAR_043989 rs397516359

ClinVar genetic disease variations for Cardiomyopathy, Dilated, 2a:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TNNI3 TNNI3, A2V single nucleotide variant Pathogenic
2 TNNI3 NM_000363.4(TNNI3): c.485G> A (p.Arg162Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516354 GRCh37 Chromosome 19, 55665462: 55665462

Expression for Cardiomyopathy, Dilated, 2a

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 2a.

Pathways for Cardiomyopathy, Dilated, 2a

GO Terms for Cardiomyopathy, Dilated, 2a

Sources for Cardiomyopathy, Dilated, 2a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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