MCID: CRD063
MIFTS: 19

Cardiomyopathy, Dilated, 2a

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

Aliases & Classifications for Cardiomyopathy, Dilated, 2a

MalaCards integrated aliases for Cardiomyopathy, Dilated, 2a:

Name: Cardiomyopathy, Dilated, 2a 53 13 69
Cmd2a 53 12 71
Dilated Cardiomyopathy 2a 12 28
Cardiomyopathy, Congestive, Autosomal Recessive 53
Cardiomyopathy, Dilated, Autosomal Recessive 53
Cardiomyopathy, Dilated 2a 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in second decade


HPO:

31
cardiomyopathy, dilated, 2a:
Onset and clinical course young adult onset juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 611880
Disease Ontology 12 DOID:0110460
ICD10 32 I42.0
MedGen 39 C2678474
MeSH 41 D002311
UMLS 69 C2678474

Summaries for Cardiomyopathy, Dilated, 2a

UniProtKB/Swiss-Prot : 71 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, is also known as cmd2a, and has symptoms including congestive heart failure and dilated cardiomyopathy. An important gene associated with Cardiomyopathy, Dilated, 2a is TNNI3 (Troponin I3, Cardiac Type). 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

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 2a

Symptoms via clinical synopsis from OMIM:

53
CardiovascularHeart:
congestive heart failure
cardiomyopathy, dilated


Clinical features from OMIM:

611880

Human phenotypes related to Cardiomyopathy, Dilated, 2a:

31
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 31 HP:0001635
2 dilated cardiomyopathy 31 HP:0001644

Drugs & Therapeutics for Cardiomyopathy, Dilated, 2a

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Dilated, 2a

Genetic Tests for Cardiomyopathy, Dilated, 2a

Genetic tests related to Cardiomyopathy, Dilated, 2a:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 2a 28 TNNI3

Anatomical Context for Cardiomyopathy, Dilated, 2a

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

38
Heart

Publications for Cardiomyopathy, Dilated, 2a

Variations for Cardiomyopathy, Dilated, 2a

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

71
# Symbol AA change Variation ID SNP ID
1 TNNI3 p.Ala2Val VAR_043989 rs397516359

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

6
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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