CMD2A
MCID: CRD063
MIFTS: 19

Cardiomyopathy, Dilated, 2a (CMD2A)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 2a

MalaCards integrated aliases for Cardiomyopathy, Dilated, 2a:

Name: Cardiomyopathy, Dilated, 2a 57 13 73
Dilated Cardiomyopathy 2a 12 29 6
Cmd2a 57 12 75
Cardiomyopathy, Congestive, Autosomal Recessive 57
Cardiomyopathy, Dilated, Autosomal Recessive 57
Cardiomyopathy, Dilated, Type 2a 40
Cardiomyopathy, Dilated 2a 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in second decade


HPO:

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


Classifications:



External Ids:

OMIM 57 611880
Disease Ontology 12 DOID:0110460
ICD10 33 I42.0
MedGen 42 C2678474
MeSH 44 D002311
UMLS 73 C2678474

Summaries for Cardiomyopathy, Dilated, 2a

UniProtKB/Swiss-Prot : 75 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 dilated cardiomyopathy 2a. An important gene associated with Cardiomyopathy, Dilated, 2a is TNNI3 (Troponin I3, Cardiac Type). Affiliated tissues include heart, and related phenotypes are congestive heart failure and dilated cardiomyopathy

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:

57
Cardiovascular Heart:
congestive heart failure
cardiomyopathy, dilated


Clinical features from OMIM:

611880

Human phenotypes related to Cardiomyopathy, Dilated, 2a:

32
# 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

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 29 TNNI3

Anatomical Context for Cardiomyopathy, Dilated, 2a

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

41
Heart

Publications for Cardiomyopathy, Dilated, 2a

Variations for Cardiomyopathy, Dilated, 2a

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

75
# 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
3 TNNI3 NM_000363.4(TNNI3): c.485G> A (p.Arg162Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516354 GRCh38 Chromosome 19, 55154094: 55154094
4 TNNI3 NM_000363.4(TNNI3): c.143A> C (p.Gln48Pro) single nucleotide variant Uncertain significance rs200720341 GRCh38 Chromosome 19, 55156610: 55156610
5 TNNI3 NM_000363.4(TNNI3): c.143A> C (p.Gln48Pro) single nucleotide variant Uncertain significance rs200720341 GRCh37 Chromosome 19, 55667978: 55667978

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
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
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