CMD1FF
MCID: CRD064
MIFTS: 17

Cardiomyopathy, Dilated, 1ff (CMD1FF)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1ff

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1ff:

Name: Cardiomyopathy, Dilated, 1ff 58 13 74
Dilated Cardiomyopathy 1ff 12 30 6
Cmd1ff 58 12 76
Cardiomyopathy, Dilated, Type 1ff 41
Cardiomyopathy, Dilated 1ff 76

Classifications:



External Ids:

Disease Ontology 12 DOID:0110459
OMIM 58 613286
MeSH 45 D002311
ICD10 34 I42.0
MedGen 43 C2750091
SNOMED-CT via HPO 70 195021004 399020009
UMLS 74 C2750091

Summaries for Cardiomyopathy, Dilated, 1ff

UniProtKB/Swiss-Prot : 76 Cardiomyopathy, dilated 1FF: 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, 1ff, is also known as dilated cardiomyopathy 1ff. An important gene associated with Cardiomyopathy, Dilated, 1ff is TNNI3 (Troponin I3, Cardiac Type). Affiliated tissues include heart, and related phenotype is dilated cardiomyopathy.

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42.

Description from OMIM: 613286

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1ff

Human phenotypes related to Cardiomyopathy, Dilated, 1ff:

33
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 33 HP:0001644

Clinical features from OMIM:

613286

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1ff

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Dilated, 1ff

Genetic Tests for Cardiomyopathy, Dilated, 1ff

Genetic tests related to Cardiomyopathy, Dilated, 1ff:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1ff 30 TNNI3

Anatomical Context for Cardiomyopathy, Dilated, 1ff

MalaCards organs/tissues related to Cardiomyopathy, Dilated, 1ff:

42
Heart

Publications for Cardiomyopathy, Dilated, 1ff

Articles related to Cardiomyopathy, Dilated, 1ff:

# Title Authors Year
1
Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. ( 19590045 )
2009

Variations for Cardiomyopathy, Dilated, 1ff

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1ff:

76
# Symbol AA change Variation ID SNP ID
1 TNNI3 p.Lys36Gln VAR_063548 rs267607130
2 TNNI3 p.Asn185Lys VAR_063549 rs267607129
3 TNNI3 p.Ala116Gly VAR_067264 rs777177571

ClinVar genetic disease variations for Cardiomyopathy, Dilated, 1ff:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TNNI3 NM_000363.4(TNNI3): c.106A> C (p.Lys36Gln) single nucleotide variant Pathogenic rs267607130 GRCh37 Chromosome 19, 55668420: 55668420
2 TNNI3 NM_000363.4(TNNI3): c.106A> C (p.Lys36Gln) single nucleotide variant Pathogenic rs267607130 GRCh38 Chromosome 19, 55157052: 55157052
3 TNNI3 NM_000363.4(TNNI3): c.555C> G (p.Asn185Lys) single nucleotide variant Pathogenic rs267607129 GRCh37 Chromosome 19, 55663280: 55663280
4 TNNI3 NM_000363.4(TNNI3): c.555C> G (p.Asn185Lys) single nucleotide variant Pathogenic rs267607129 GRCh38 Chromosome 19, 55151912: 55151912
5 TNNI3 NM_000363.4(TNNI3): c.434G> A (p.Arg145Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516349 GRCh37 Chromosome 19, 55665513: 55665513
6 TNNI3 NM_000363.4(TNNI3): c.434G> A (p.Arg145Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516349 GRCh38 Chromosome 19, 55154145: 55154145
7 TNNI3 NM_000363.4(TNNI3): c.485G> A (p.Arg162Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516354 GRCh37 Chromosome 19, 55665462: 55665462
8 TNNI3 NM_000363.4(TNNI3): c.485G> A (p.Arg162Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516354 GRCh38 Chromosome 19, 55154094: 55154094
9 TNNI3 NM_000363.4(TNNI3): c.508C> G (p.Arg170Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs727503504 GRCh37 Chromosome 19, 55665439: 55665439
10 TNNI3 NM_000363.4(TNNI3): c.508C> G (p.Arg170Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs727503504 GRCh38 Chromosome 19, 55154071: 55154071

Expression for Cardiomyopathy, Dilated, 1ff

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1ff.

Pathways for Cardiomyopathy, Dilated, 1ff

GO Terms for Cardiomyopathy, Dilated, 1ff

Sources for Cardiomyopathy, Dilated, 1ff

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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