MCID: CRD064
MIFTS: 17

Cardiomyopathy, Dilated, 1ff

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1ff

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1ff:

Name: Cardiomyopathy, Dilated, 1ff 57 13 73
Dilated Cardiomyopathy 1ff 12 29 6
Cmd1ff 57 12 75
Cardiomyopathy, Dilated, Type 1ff 40
Cardiomyopathy, Dilated 1ff 75

Classifications:



External Ids:

OMIM 57 613286
Disease Ontology 12 DOID:0110459
ICD10 33 I42.0
MedGen 42 C2750091
MeSH 44 D002311
SNOMED-CT via HPO 69 195021004 399020009
UMLS 73 C2750091

Summaries for Cardiomyopathy, Dilated, 1ff

UniProtKB/Swiss-Prot : 75 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

Clinical features from OMIM:

613286

Human phenotypes related to Cardiomyopathy, Dilated, 1ff:

32
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 32 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 29 TNNI3

Anatomical Context for Cardiomyopathy, Dilated, 1ff

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

41
Heart

Publications for Cardiomyopathy, Dilated, 1ff

Variations for Cardiomyopathy, Dilated, 1ff

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

75
# 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.485G> A (p.Arg162Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516354 GRCh37 Chromosome 19, 55665462: 55665462
6 TNNI3 NM_000363.4(TNNI3): c.485G> A (p.Arg162Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516354 GRCh38 Chromosome 19, 55154094: 55154094
7 TNNI3 NM_000363.4(TNNI3): c.508C> G (p.Arg170Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs727503504 GRCh37 Chromosome 19, 55665439: 55665439
8 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 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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