MCID: CRD111
MIFTS: 17

Cardiomyopathy, Dilated, 1i malady

Genetic diseases, Cardiovascular diseases, Rare diseases categories

Summaries for Cardiomyopathy, Dilated, 1i

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MalaCards based summary: Cardiomyopathy, Dilated, 1i and has symptoms including autosomal dominant inheritance, dilated cardiomyopathy and reduced systolic function. An important gene associated with Cardiomyopathy, Dilated, 1i is DES (desmin).

Description from OMIM:45 604765

Aliases & Classifications for Cardiomyopathy, Dilated, 1i

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Cardiomyopathy, Dilated, 1i, Aliases & Descriptions:

Name: Cardiomyopathy, Dilated, 1i 45 10 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Cardiovascular diseases


External Ids:

OMIM45 604765

Related Diseases for Cardiomyopathy, Dilated, 1i

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Diseases in the Dilated Cardiomyopathy family:

Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1a
Cardiomyopathy, Dilated, 1v Cardiomyopathy, Dilated, 1d
Cardiomyopathy, Dilated, 1aa 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, 1n
Cardiomyopathy, Dilated, 1bb Cardiomyopathy, Dilated, 2a
Cardiomyopathy, Dilated, 1ff Cardiomyopathy, Dilated, 3b
Cardiomyopathy, Dilated 1c Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Familial Dilated Cardiomyopathy
Taz-Related Dilated Cardiomyopathy Tnnt2-Related Dilated Cardiomyopathy
Myh7-Related Dilated Cardiomyopathy Mybpc3-Related Dilated Cardiomyopathy
Tpm1-Related Dilated Cardiomyopathy Des-Related Dilated Cardiomyopathy
Sgcd-Related Dilated Cardiomyopathy Tnni3-Related Dilated Cardiomyopathy
Actc1-Related Dilated Cardiomyopathy Ldb3-Related Dilated Cardiomyopathy
Pln-Related Dilated Cardiomyopathy Scn5a-Related Dilated Cardiomyopathy
Dmd-Related Dilated Cardiomyopathy Ttn-Related Dilated Cardiomyopathy
Csrp3-Related Dilated Cardiomyopathy Tcap-Related Dilated Cardiomyopathy
Abcc9-Related Dilated Cardiomyopathy Vcl-Related Dilated Cardiomyopathy
Actn2-Related Dilated Cardiomyopathy Tnnc1-Related Dilated Cardiomyopathy
Ankrd1-Related Dilated Cardiomyopathy Psen2-Related Dilated Cardiomyopathy
Psen1-Related Dilated Cardiomyopathy Eya4-Related Dilated Cardiomyopathy
Tmpo-Related Dilated Cardiomyopathy Fktn-Related Dilated Cardiomyopathy
Dsg2-Related Dilated Cardiomyopathy Nexn-Related Dilated Cardiomyopathy
Rbm20-Related Dilated Cardiomyopathy Bag3-Related Dilated Cardiomyopathy
Myh6-Related Dilated Cardiomyopathy

Symptoms for Cardiomyopathy, Dilated, 1i

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Clinical features from OMIM:

604765

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

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 dilated cardiomyopathy HP:0001644
3 reduced systolic function HP:0006673

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1i

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Drug clinical trials:

Search ClinicalTrials for Cardiomyopathy, Dilated, 1i

Search 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 1i22

Anatomical Context for Cardiomyopathy, Dilated, 1i

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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:

62
id Symbol AA change Variation ID SNP ID
1DESp.Ile451MetVAR_018773rs121913002

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1DESNM_001927.3(DES): c.1353C> G (p.Ile451Met)single nucleotide variantPathogenicrs121913002GRCh37Chr 2, 220290449: 220290449

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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Compounds for genes affiliated with Cardiomyopathy, Dilated, 1i

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

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Products for genes affiliated with Cardiomyopathy, Dilated, 1i

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cardiomyopathy, Dilated, 1i

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet