MCID: CRD096
MIFTS: 17

Cardiomyopathy, Dilated, 1ee

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1ee

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1ee:

Name: Cardiomyopathy, Dilated, 1ee 57 13 73
Dilated Cardiomyopathy 1ee 12 29 6
Cmd1ee 57 12 75
Cardiomyopathy, Dilated, Type 1ee 40
Cardiomyopathy, Dilated 1ee 75

Classifications:



External Ids:

OMIM 57 613252
Disease Ontology 12 DOID:0110453
ICD10 33 I42.0
MedGen 42 C2750466
MeSH 44 D002311
SNOMED-CT via HPO 69 195021004 399020009
UMLS 73 C2750466

Summaries for Cardiomyopathy, Dilated, 1ee

UniProtKB/Swiss-Prot : 75 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 dilated cardiomyopathy 1ee. An important gene associated with Cardiomyopathy, Dilated, 1ee is MYH6 (Myosin Heavy Chain 6). Affiliated tissues include heart, and related phenotype is dilated cardiomyopathy.

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:

32
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 32 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 29 MYH6

Anatomical Context for Cardiomyopathy, Dilated, 1ee

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

41
Heart

Publications for Cardiomyopathy, Dilated, 1ee

Variations for Cardiomyopathy, Dilated, 1ee

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

75
# 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.2489C> T (p.Pro830Leu) single nucleotide variant Pathogenic rs267606906 GRCh38 Chromosome 14, 23394264: 23394264
3 MYH6 NM_002471.3(MYH6): c.4369G> A (p.Glu1457Lys) single nucleotide variant Pathogenic rs267606905 GRCh37 Chromosome 14, 23857123: 23857123
4 MYH6 NM_002471.3(MYH6): c.4369G> A (p.Glu1457Lys) single nucleotide variant Pathogenic rs267606905 GRCh38 Chromosome 14, 23387914: 23387914
5 MYH6 NM_002471.3(MYH6): c.3508G> A (p.Glu1170Lys) single nucleotide variant Uncertain significance rs727503236 GRCh37 Chromosome 14, 23859490: 23859490
6 MYH6 NM_002471.3(MYH6): c.3508G> A (p.Glu1170Lys) single nucleotide variant Uncertain significance rs727503236 GRCh38 Chromosome 14, 23390281: 23390281

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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