MCID: CRD064
MIFTS: 17

Cardiomyopathy, Dilated, 1ff

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1ff

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1ff:

Name: Cardiomyopathy, Dilated, 1ff 53 13 69
Cmd1ff 53 12 71
Dilated Cardiomyopathy 1ff 12 28
Cardiomyopathy, Dilated 1ff 71

Classifications:



External Ids:

OMIM 53 613286
Disease Ontology 12 DOID:0110459
ICD10 32 I42.0
MedGen 39 C2750091
MeSH 41 D002311
SNOMED-CT via HPO 65 195021004 399020009
UMLS 69 C2750091

Summaries for Cardiomyopathy, Dilated, 1ff

UniProtKB/Swiss-Prot : 71 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 cmd1ff, and has symptoms including dilated cardiomyopathy An important gene associated with Cardiomyopathy, Dilated, 1ff 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 19q13.42.

Description from OMIM: 613286

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1ff

Clinical features from OMIM:

613286

Human phenotypes related to Cardiomyopathy, Dilated, 1ff:

31
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 31 HP:0001644

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 28 TNNI3

Anatomical Context for Cardiomyopathy, Dilated, 1ff

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

38
Heart

Publications for Cardiomyopathy, Dilated, 1ff

Variations for Cardiomyopathy, Dilated, 1ff

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

71
# 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.555C> G (p.Asn185Lys) single nucleotide variant Pathogenic rs267607129 GRCh37 Chromosome 19, 55663280: 55663280
3 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, 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
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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