CMD2A
MCID: CRD063
MIFTS: 21

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 58 13 74
Dilated Cardiomyopathy 2a 12 30 6
Cmd2a 58 12 76
Cardiomyopathy, Congestive, Autosomal Recessive 58
Cardiomyopathy, Dilated, Autosomal Recessive 58
Cardiomyopathy, Dilated, Type 2a 41
Cardiomyopathy, Dilated 2a 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in second decade


HPO:

33
cardiomyopathy, dilated, 2a:
Onset and clinical course young adult onset juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110460
OMIM 58 611880
MeSH 45 D002311
ICD10 34 I42.0
MedGen 43 C2678474
UMLS 74 C2678474

Summaries for Cardiomyopathy, Dilated, 2a

UniProtKB/Swiss-Prot : 76 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

Human phenotypes related to Cardiomyopathy, Dilated, 2a:

33
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 33 HP:0001635
2 dilated cardiomyopathy 33 HP:0001644

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
congestive heart failure
cardiomyopathy, dilated

Clinical features from OMIM:

611880

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 30 TNNI3

Anatomical Context for Cardiomyopathy, Dilated, 2a

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

42
Heart

Publications for Cardiomyopathy, Dilated, 2a

Articles related to Cardiomyopathy, Dilated, 2a:

# Title Authors Year
1
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
2
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
3
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
4
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). ( 21267010 )
2011
5
Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. ( 19590045 )
2009
6
Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. ( 15070570 )
2004

Variations for Cardiomyopathy, Dilated, 2a

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

76
# 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.434G> A (p.Arg145Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516349 GRCh37 Chromosome 19, 55665513: 55665513
3 TNNI3 NM_000363.4(TNNI3): c.434G> A (p.Arg145Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516349 GRCh38 Chromosome 19, 55154145: 55154145
4 TNNI3 NM_000363.4(TNNI3): c.485G> A (p.Arg162Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516354 GRCh37 Chromosome 19, 55665462: 55665462
5 TNNI3 NM_000363.4(TNNI3): c.485G> A (p.Arg162Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516354 GRCh38 Chromosome 19, 55154094: 55154094
6 TNNI3 NM_000363.4(TNNI3): c.143A> C (p.Gln48Pro) single nucleotide variant Uncertain significance rs200720341 GRCh38 Chromosome 19, 55156610: 55156610
7 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 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
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