MCID: CRD112
MIFTS: 22

Cardiomyopathy, Dilated, 1u malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1u

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Aliases & Descriptions for Cardiomyopathy, Dilated, 1u:

Name: Cardiomyopathy, Dilated, 1u 49 11 65
Cardiomyopathy, Dilated 1u 67 24
 
Cmd1u 67

Characteristics:

HPO:

61
cardiomyopathy, dilated, 1u:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 613694
MedGen34 C3160720
MeSH36 D002311
UMLS65 C3160720

Summaries for Cardiomyopathy, Dilated, 1u

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UniProtKB/Swiss-Prot:67 Cardiomyopathy, dilated 1U: 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, 1u, also known as cardiomyopathy, dilated 1u, is related to cardiomyopathy, dilated, 1a, and has symptoms including syncope, congestive heart failure and dilated cardiomyopathy. An important gene associated with Cardiomyopathy, Dilated, 1u is PSEN1 (Presenilin 1). Affiliated tissues include heart.

Description from OMIM:49 613694

Related Diseases for Cardiomyopathy, Dilated, 1u

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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 Cryab-Related Dilated Cardiomyopathy
Mypn-Related 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, 1u via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, dilated, 1a10.4

Symptoms for Cardiomyopathy, Dilated, 1u

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Symptoms by clinical synopsis from OMIM:

613694

Clinical features from OMIM:

613694

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

id Description Frequency HPO Source Accession
1 syncope HP:0001279
2 congestive heart failure HP:0001635
3 dilated cardiomyopathy HP:0001644

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1u

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Interventional clinical trials:

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

Genetic Tests for Cardiomyopathy, Dilated, 1u

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Anatomical Context for Cardiomyopathy, Dilated, 1u

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

33
Heart

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

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Publications for Cardiomyopathy, Dilated, 1u

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Variations for Cardiomyopathy, Dilated, 1u

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

67
id Symbol AA change Variation ID SNP ID
1PSEN1p.Asp333GlyVAR_064902

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1PSEN1NM_000021.3(PSEN1): c.998A> G (p.Asp333Gly)single nucleotide variantLikely pathogenic, Pathogenicrs121917809GRCh37Chr 14, 73678519: 73678519

Expression for genes affiliated with Cardiomyopathy, Dilated, 1u

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

Pathways for genes affiliated with Cardiomyopathy, Dilated, 1u

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

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Sources for Cardiomyopathy, Dilated, 1u

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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