MCID: CRD096
MIFTS: 21

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 54 13 69
Dilated Cardiomyopathy 1ee 12 29
Cmd1ee 12 71
Cardiomyopathy, Dilated 1ee 71

Classifications:



External Ids:

OMIM 54 613252
Disease Ontology 12 DOID:0110453
ICD10 33 I42.0
MedGen 40 C2750466
MeSH 42 D002311
SNOMED-CT via HPO 65 195021004 399020009

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, also known as dilated cardiomyopathy 1ee, is related to myh6-related dilated cardiomyopathy, 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

Related Diseases for Cardiomyopathy, Dilated, 1ee

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, 1ee Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1bb
Cardiomyopathy, Dilated, 2a Cardiomyopathy, Dilated, 1ff
Cardiomyopathy, Dilated, 3b Dilated Cardiomyopathy
Dmd-Related Dilated Cardiomyopathy Dilated Cardiomyopathy 1c
Dilated Cardiomyopathy 1aa Dilated Cardiomyopathy 1b
Dilated Cardiomyopathy 1t Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Mypn-Related Cardiomyopathy
Abcc9-Related Dilated Cardiomyopathy Actc1-Related Dilated Cardiomyopathy
Actn2-Related Dilated Cardiomyopathy Ankrd1-Related Dilated Cardiomyopathy
Bag3-Related Dilated Cardiomyopathy Cryab-Related Dilated Cardiomyopathy
Csrp3-Related Dilated Cardiomyopathy Des-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 Prdm16-Related Dilated Cardiomyopathy
Psen1-Related Dilated Cardiomyopathy Psen2-Related Dilated Cardiomyopathy
Rbm20-Related Dilated Cardiomyopathy Scn5a-Related Dilated Cardiomyopathy
Sdha-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, 1ee via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 myh6-related dilated cardiomyopathy 11.1

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1ee

Clinical features from OMIM:

613252

Human phenotypes related to Cardiomyopathy, Dilated, 1ee:

32
id 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:

id Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1ee 29

Anatomical Context for Cardiomyopathy, Dilated, 1ee

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

39
Heart

Publications for Cardiomyopathy, Dilated, 1ee

Variations for Cardiomyopathy, Dilated, 1ee

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

71
id 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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....