MCID: CRD111
MIFTS: 23

Cardiomyopathy, Dilated, 1i malady

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1i

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Aliases & Descriptions for Cardiomyopathy, Dilated, 1i:

Name: Cardiomyopathy, Dilated, 1i 51 12 67
Cardiomyopathy, Dilated 1i 69 26
 
Cmd1i 11 69
Dilated Cardiomyopathy 1i 11

Characteristics:

HPO:

63
cardiomyopathy, dilated, 1i:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 604765
Disease Ontology11 DOID:0110431
ICD1029 I42.0
MedGen36 C1858154
MeSH38 D002311

Summaries for Cardiomyopathy, Dilated, 1i

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UniProtKB/Swiss-Prot:69 Cardiomyopathy, dilated 1I: 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, 1i, also known as cardiomyopathy, dilated 1i, is related to des-related dilated cardiomyopathy and cardiomyopathy, dilated, 1a, and has symptoms including dilated cardiomyopathy and reduced systolic function. An important gene associated with Cardiomyopathy, Dilated, 1i is DES (Desmin). Affiliated tissues include heart.

Disease Ontology:11 A dilated cardiomyopathy that has material basis in mutation in the DES gene on chromosome 2q35.

Description from OMIM:51 604765

Related Diseases for Cardiomyopathy, Dilated, 1i

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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 1b Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Mypn-Related Cardiomyopathy
Prdm16-Related Dilated Cardiomyopathy Sdha-Related Dilated 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 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, 1i via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1des-related dilated cardiomyopathy11.1
2cardiomyopathy, dilated, 1a10.9

Symptoms for Cardiomyopathy, Dilated, 1i

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Clinical features from OMIM:

604765

Human phenotypes related to Cardiomyopathy, Dilated, 1i:

 63
id Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy63 HP:0001644
2 reduced systolic function63 HP:0006673

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1i

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Interventional clinical trials:

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

Genetic Tests for Cardiomyopathy, Dilated, 1i

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Genetic tests related to Cardiomyopathy, Dilated, 1i:

id Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1i26

Anatomical Context for Cardiomyopathy, Dilated, 1i

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

35
Heart

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

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Publications for Cardiomyopathy, Dilated, 1i

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Variations for Cardiomyopathy, Dilated, 1i

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

69
id Symbol AA change Variation ID SNP ID
1DESp.Ile451MetVAR_018773rs121913002
2DESp.Ala120AspVAR_075228
3DESp.Leu136ProVAR_075229

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1DESNM_001927.3(DES): c.735+1G> ASNVLikely pathogenic, Pathogenicrs397516698GRCh37Chr 2, 220285069: 220285069
2DESNM_001927.3(DES): c.1360C> T (p.Arg454Trp)SNVLikely pathogenic, Pathogenicrs267607490GRCh37Chr 2, 220290456: 220290456

Expression for genes affiliated with Cardiomyopathy, Dilated, 1i

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

Pathways for genes affiliated with Cardiomyopathy, Dilated, 1i

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

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Sources for Cardiomyopathy, Dilated, 1i

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet