CMD1FF
MCID: CRD064
MIFTS: 24

Cardiomyopathy, Dilated, 1ff (CMD1FF)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1ff

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1ff:

Name: Cardiomyopathy, Dilated, 1ff 57 13 70
Dilated Cardiomyopathy 1ff 12 29 6
Cmd1ff 57 12 72
Cardiomyopathy, Dilated, Type 1ff 39
Cardiomyopathy, Dilated 1ff 72

Classifications:



External Ids:

Disease Ontology 12 DOID:0110459
OMIM® 57 613286
OMIM Phenotypic Series 57 PS115200
MeSH 44 D002311
ICD10 32 I42.0
MedGen 41 C2750091
SNOMED-CT via HPO 68 195021004 399020009
UMLS 70 C2750091

Summaries for Cardiomyopathy, Dilated, 1ff

UniProtKB/Swiss-Prot : 72 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, also known as dilated cardiomyopathy 1ff, is related to dilated cardiomyopathy. An important gene associated with Cardiomyopathy, Dilated, 1ff is TNNI3 (Troponin I3, Cardiac Type), and among its related pathways/superpathways is Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include heart, and related phenotypes are dilated cardiomyopathy and muscle

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

More information from OMIM: 613286 PS115200

Related Diseases for Cardiomyopathy, Dilated, 1ff

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1ff

Human phenotypes related to Cardiomyopathy, Dilated, 1ff:

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

Clinical features from OMIM®:

613286 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Cardiomyopathy, Dilated, 1ff:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.96 KLF5 TNNI3
2 respiratory system MP:0005388 8.62 KLF5 TNNI3

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:

40
Heart

Publications for Cardiomyopathy, Dilated, 1ff

Articles related to Cardiomyopathy, Dilated, 1ff:

# Title Authors PMID Year
1
Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. 57 6
19590045 2009
2
High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians. 6
22876777 2012
3
Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy. 6
21511876 2011
4
Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. 6
15698845 2005
5
Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. 6
15607392 2004
6
Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. 6
12860912 2003

Variations for Cardiomyopathy, Dilated, 1ff

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TNNI3 NM_000363.5(TNNI3):c.106A>C (p.Lys36Gln) SNV Pathogenic 12430 rs267607130 GRCh37: 19:55668420-55668420
GRCh38: 19:55157052-55157052
2 TNNI3 NM_000363.5(TNNI3):c.555C>G (p.Asn185Lys) SNV Pathogenic 12431 rs267607129 GRCh37: 19:55663280-55663280
GRCh38: 19:55151912-55151912
3 TNNI3 NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) SNV Pathogenic 43389 rs397516354 GRCh37: 19:55665462-55665462
GRCh38: 19:55154094-55154094
4 TNNI3 NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) SNV Pathogenic 43384 rs397516349 GRCh37: 19:55665513-55665513
GRCh38: 19:55154145-55154145
5 KLF5 NM_001730.5(KLF5):c.1100T>A (p.Leu367Ter) SNV Pathogenic 694066 GRCh37: 13:73636837-73636837
GRCh38: 13:73062699-73062699
6 TNNI3 NM_000363.5(TNNI3):c.204del (p.Arg69fs) Deletion Pathogenic 179447 rs727504872 GRCh37: 19:55667647-55667647
GRCh38: 19:55156279-55156279
7 TNNI3 NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) SNV Likely pathogenic 43389 rs397516354 GRCh37: 19:55665462-55665462
GRCh38: 19:55154094-55154094
8 TNNI3 NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly) SNV Likely pathogenic 165517 rs727503504 GRCh37: 19:55665439-55665439
GRCh38: 19:55154071-55154071

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

72
# 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

Expression for Cardiomyopathy, Dilated, 1ff

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

Pathways for Cardiomyopathy, Dilated, 1ff

Pathways related to Cardiomyopathy, Dilated, 1ff according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.75 TNNI3 KLF5

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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