MCID: CRD064
MIFTS: 21

Cardiomyopathy, Dilated, 1ff malady

Genetic diseases, Cardiovascular diseases, Rare diseases, Muscle diseases categories

Aliases & Classifications for Cardiomyopathy, Dilated, 1ff

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Aliases & Descriptions for Cardiomyopathy, Dilated, 1ff:

Name: Cardiomyopathy, Dilated, 1ff 49 11 24
Cardiomyopathy, Dilated 1ff 67
 
Cmd1ff 67


Classifications:



External Ids:

OMIM49 613286
MedGen34 C2750091
MeSH36 D002311

Summaries for Cardiomyopathy, Dilated, 1ff

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UniProtKB/Swiss-Prot:67 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 cardiomyopathy, dilated 1ff, is related to cardiomyopathy, dilated, 1a, and has symptoms including dilated cardiomyopathy An important gene associated with Cardiomyopathy, Dilated, 1ff is TNNI3 (Troponin I Type 3 (Cardiac)). Affiliated tissues include heart.

Description from OMIM:49 613286

Related Diseases for Cardiomyopathy, Dilated, 1ff

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Diseases in the Cardiomyopathy family:

Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1a
Cardiomyopathy, Dilated, 1v Cardiomyopathy, Dilated, 1d
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1i Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 1z Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1gg Cardiomyopathy, Dilated, 1l
Cardiomyopathy, Dilated, 1k Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1p Cardiomyopathy, Dilated, 1j
Cardiomyopathy, Dilated, 2b Cardiomyopathy, Dilated, 1q
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1kk
Cardiomyopathy, Dilated, 1w Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1o
Cardiomyopathy, Dilated, 1t Cardiomyopathy, Dilated, 1ee
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1r
Cardiomyopathy, Dilated, 1bb Cardiomyopathy, Dilated, 2a
cardiomyopathy, dilated, 1ff Cardiomyopathy, Dilated, 3b
Dilated Cardiomyopathy Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Familial Dilated Cardiomyopathy
Abcc9-Related Dilated Cardiomyopathy Actc1-Related Dilated Cardiomyopathy
Actn2-Related Dilated Cardiomyopathy Ankrd1-Related Dilated Cardiomyopathy
Bag3-Related Dilated Cardiomyopathy Csrp3-Related Dilated Cardiomyopathy
Des-Related Dilated Cardiomyopathy Dmd-Related Dilated Cardiomyopathy
Dsg2-Related Dilated Cardiomyopathy Eya4-Related Dilated Cardiomyopathy
Fktn-Related Dilated Cardiomyopathy Gatad1-Related Dilated Cardiomyopathy
Lama4-Related Dilated Cardiomyopathy Ldb3-Related Dilated Cardiomyopathy
Mybpc3-Related Dilated Cardiomyopathy Myh6-Related Dilated Cardiomyopathy
Myh7-Related Dilated Cardiomyopathy Nexn-Related Dilated Cardiomyopathy
Pln-Related Dilated Cardiomyopathy Psen1-Related Dilated Cardiomyopathy
Psen2-Related Dilated Cardiomyopathy Rbm20-Related Dilated Cardiomyopathy
Scn5a-Related Dilated Cardiomyopathy Sgcd-Related Dilated Cardiomyopathy
Taz-Related Dilated Cardiomyopathy Tcap-Related Dilated Cardiomyopathy
Tmpo-Related Dilated Cardiomyopathy Tnnc1-Related Dilated Cardiomyopathy
Tnni3-Related Dilated Cardiomyopathy Tnnt2-Related Dilated Cardiomyopathy
Tpm1-Related Dilated Cardiomyopathy Ttn-Related Dilated Cardiomyopathy
Vcl-Related Dilated Cardiomyopathy

Diseases related to Cardiomyopathy, Dilated, 1ff via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, dilated, 1a10.1

Symptoms for Cardiomyopathy, Dilated, 1ff

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Clinical features from OMIM:

613286

HPO human phenotypes related to Cardiomyopathy, Dilated, 1ff:

id Description Frequency HPO Source Accession
1 dilated cardiomyopathy HP:0001644

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1ff

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Interventional clinical trials:

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

Genetic Tests for Cardiomyopathy, Dilated, 1ff

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Genetic tests related to Cardiomyopathy, Dilated, 1ff:

id Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1ff24

Anatomical Context for Cardiomyopathy, Dilated, 1ff

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

33
Heart

Animal Models for Cardiomyopathy, Dilated, 1ff or affiliated genes

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Publications for Cardiomyopathy, Dilated, 1ff

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Variations for Cardiomyopathy, Dilated, 1ff

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

67
id Symbol AA change Variation ID SNP ID
1TNNI3p.Lys36GlnVAR_063548
2TNNI3p.Asn185LysVAR_063549
3TNNI3p.Ala116GlyVAR_067264

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1TNNI3NM_000363.4(TNNI3): c.106A> C (p.Lys36Gln)single nucleotide variantPathogenicrs267607130GRCh37Chr 19, 55668420: 55668420
2TNNI3NM_000363.4(TNNI3): c.555C> G (p.Asn185Lys)single nucleotide variantPathogenicrs267607129GRCh37Chr 19, 55663280: 55663280
3TNNI3NM_000363.4(TNNI3): c.508C> G (p.Arg170Gly)single nucleotide variantLikely pathogenicrs727503504GRCh37Chr 19, 55665439: 55665439
4TNNI3NM_000363.4(TNNI3): c.464T> C (p.Met155Thr)single nucleotide variantLikely pathogenicrs397516352GRCh37Chr 19, 55665483: 55665483
5TNNI3NM_000363.4(TNNI3): c.544G> A (p.Glu182Lys)single nucleotide variantPathogenicrs397516355GRCh37Chr 19, 55665403: 55665403
6TNNI3NM_000363.4(TNNI3): c.550G> A (p.Glu184Lys)single nucleotide variantLikely pathogenicrs397516356GRCh37Chr 19, 55663285: 55663285
7TNNI3NM_000363.4(TNNI3): c.5C> T (p.Ala2Val)single nucleotide variantLikely pathogenicrs397516359GRCh37Chr 19, 55668953: 55668953

Expression for genes affiliated with Cardiomyopathy, Dilated, 1ff

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

Pathways for genes affiliated with Cardiomyopathy, Dilated, 1ff

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GO Terms for genes affiliated with Cardiomyopathy, Dilated, 1ff

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Sources for Cardiomyopathy, Dilated, 1ff

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet