MCID: CRD112
MIFTS: 19

Cardiomyopathy, Dilated, 1u

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1u

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1u:

Name: Cardiomyopathy, Dilated, 1u 53 28 13 69
Cmd1u 53 12 71
Cardiomyopathy, Dilated 1u 71
Dilated Cardiomyopathy 1u 12

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
cardiomyopathy, dilated, 1u:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 613694
Disease Ontology 12 DOID:0110455
ICD10 32 I42.0
MedGen 39 C3160720
MeSH 41 D002311
UMLS 69 C3160720

Summaries for Cardiomyopathy, Dilated, 1u

UniProtKB/Swiss-Prot : 71 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, is also known as cmd1u, 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.

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the PSEN1 gene on chromosome 14q24.3.

Description from OMIM: 613694

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1u

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Heart:
cardiomyopathy, dilated
ejection fraction decreased
heart failure
syncope


Clinical features from OMIM:

613694

Human phenotypes related to Cardiomyopathy, Dilated, 1u:

31
# Description HPO Frequency HPO Source Accession
1 syncope 31 HP:0001279
2 congestive heart failure 31 HP:0001635
3 dilated cardiomyopathy 31 HP:0001644

UMLS symptoms related to Cardiomyopathy, Dilated, 1u:


syncope

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1u

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

Genetic Tests for Cardiomyopathy, Dilated, 1u

Genetic tests related to Cardiomyopathy, Dilated, 1u:

# Genetic test Affiliating Genes
1 Cardiomyopathy, Dilated, 1u 28 PSEN1

Anatomical Context for Cardiomyopathy, Dilated, 1u

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

38
Heart

Publications for Cardiomyopathy, Dilated, 1u

Variations for Cardiomyopathy, Dilated, 1u

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

71
# Symbol AA change Variation ID SNP ID
1 PSEN1 p.Asp333Gly VAR_064902 rs121917809

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PSEN1 NM_000021.3(PSEN1): c.998A> G (p.Asp333Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121917809 GRCh37 Chromosome 14, 73678519: 73678519

Expression for Cardiomyopathy, Dilated, 1u

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

Pathways for Cardiomyopathy, Dilated, 1u

GO Terms for Cardiomyopathy, Dilated, 1u

Sources for Cardiomyopathy, Dilated, 1u

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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