MCID: CRD096
MIFTS: 17

Cardiomyopathy, Dilated, 1ee

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1ee

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1ee:

Name: Cardiomyopathy, Dilated, 1ee 53 13 69
Cmd1ee 53 12 71
Dilated Cardiomyopathy 1ee 12 28
Cardiomyopathy, Dilated 1ee 71

Classifications:



External Ids:

OMIM 53 613252
Disease Ontology 12 DOID:0110453
ICD10 32 I42.0
MedGen 39 C2750466
MeSH 41 D002311
SNOMED-CT via HPO 65 195021004 399020009
UMLS 69 C2750466

Summaries for Cardiomyopathy, Dilated, 1ee

UniProtKB/Swiss-Prot : 71 Cardiomyopathy, dilated 1EE: 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, 1ee, is also known as cmd1ee, and has symptoms including dilated cardiomyopathy An important gene associated with Cardiomyopathy, Dilated, 1ee is MYH6 (Myosin Heavy Chain 6). Affiliated tissues include heart.

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the MYH6 gene on chromosome 14q11.2.

Description from OMIM: 613252

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1ee

Clinical features from OMIM:

613252

Human phenotypes related to Cardiomyopathy, Dilated, 1ee:

31
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 31 HP:0001644

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1ee

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

Genetic Tests for Cardiomyopathy, Dilated, 1ee

Genetic tests related to Cardiomyopathy, Dilated, 1ee:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1ee 28 MYH6

Anatomical Context for Cardiomyopathy, Dilated, 1ee

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

38
Heart

Publications for Cardiomyopathy, Dilated, 1ee

Variations for Cardiomyopathy, Dilated, 1ee

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

71
# Symbol AA change Variation ID SNP ID
1 MYH6 p.Pro830Leu VAR_063552 rs267606906
2 MYH6 p.Ala1004Ser VAR_063553 rs143978652
3 MYH6 p.Glu1457Lys VAR_063557 rs267606905

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH6 NM_002471.3(MYH6): c.2489C> T (p.Pro830Leu) single nucleotide variant Pathogenic rs267606906 GRCh37 Chromosome 14, 23863473: 23863473
2 MYH6 NM_002471.3(MYH6): c.4369G> A (p.Glu1457Lys) single nucleotide variant Pathogenic rs267606905 GRCh37 Chromosome 14, 23857123: 23857123

Expression for Cardiomyopathy, Dilated, 1ee

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

Pathways for Cardiomyopathy, Dilated, 1ee

GO Terms for Cardiomyopathy, Dilated, 1ee

Sources for Cardiomyopathy, Dilated, 1ee

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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