CMD1FF
MCID: CRD064
MIFTS: 22

Cardiomyopathy, Dilated, 1ff (CMD1FF) malady

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1ff

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Aliases & Descriptions for Cardiomyopathy, Dilated, 1ff:

Name: Cardiomyopathy, Dilated, 1ff 52 12 68
Cardiomyopathy, Dilated 1ff 70 27
 
Cmd1ff 11 70
Dilated Cardiomyopathy 1ff 11

Classifications:



External Ids:

OMIM52 613286
Disease Ontology11 DOID:0110459
ICD1030 I42.0
MedGen37 C2750091
MeSH39 D002311

Summaries for Cardiomyopathy, Dilated, 1ff

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UniProtKB/Swiss-Prot:70 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 I3, Cardiac Type). Affiliated tissues include heart.

Disease Ontology:11 A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42.

Description from OMIM:52 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 Dmd-Related Dilated Cardiomyopathy
Dilated Cardiomyopathy 1c Dilated Cardiomyopathy 1aa
Dilated Cardiomyopathy 1b Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Mypn-Related Cardiomyopathy
Abcc9-Related Dilated Cardiomyopathy Actc1-Related Dilated Cardiomyopathy
Actn2-Related Dilated Cardiomyopathy Ankrd1-Related Dilated Cardiomyopathy
Bag3-Related Dilated Cardiomyopathy Cryab-Related Dilated Cardiomyopathy
Csrp3-Related Dilated Cardiomyopathy Des-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 Prdm16-Related Dilated Cardiomyopathy
Psen1-Related Dilated Cardiomyopathy Psen2-Related Dilated Cardiomyopathy
Rbm20-Related Dilated Cardiomyopathy Scn5a-Related Dilated Cardiomyopathy
Sdha-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, 1a10.9

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1ff

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Clinical features from OMIM:

613286

Human phenotypes related to Cardiomyopathy, Dilated, 1ff:

 64
id Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy64 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 1ff27

Anatomical Context for Cardiomyopathy, Dilated, 1ff

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

36
Heart

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:

70
id Symbol AA change Variation ID SNP ID
1TNNI3p.Lys36GlnVAR_063548rs267607130
2TNNI3p.Asn185LysVAR_063549rs267607129
3TNNI3p.Ala116GlyVAR_067264rs777177571

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)SNVPathogenicrs267607130GRCh37Chr 19, 55668420: 55668420
2TNNI3NM_ 000363.4(TNNI3): c.555C> G (p.Asn185Lys)SNVPathogenicrs267607129GRCh37Chr 19, 55663280: 55663280
3TNNI3NM_ 000363.4(TNNI3): c.485G> A (p.Arg162Gln)SNVPathogenic/ Likely pathogenicrs397516354GRCh37Chr 19, 55665462: 55665462

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet