CMD1EE
MCID: CRD096
MIFTS: 18

Cardiomyopathy, Dilated, 1ee (CMD1EE)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1ee

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1ee:

Name: Cardiomyopathy, Dilated, 1ee 58 13 74
Dilated Cardiomyopathy 1ee 12 30 6
Cmd1ee 58 12 76
Cardiomyopathy, Dilated, Type 1ee 41
Cardiomyopathy, Dilated 1ee 76

Classifications:



External Ids:

Disease Ontology 12 DOID:0110453
OMIM 58 613252
MeSH 45 D002311
ICD10 34 I42.0
MedGen 43 C2750466
SNOMED-CT via HPO 70 195021004 399020009
UMLS 74 C2750466

Summaries for Cardiomyopathy, Dilated, 1ee

UniProtKB/Swiss-Prot : 76 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

Human phenotypes related to Cardiomyopathy, Dilated, 1ee:

33
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 33 HP:0001644

Clinical features from OMIM:

613252

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 30 MYH6

Anatomical Context for Cardiomyopathy, Dilated, 1ee

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

42
Heart

Publications for Cardiomyopathy, Dilated, 1ee

Articles related to Cardiomyopathy, Dilated, 1ee:

# Title Authors Year
1
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). ( 21267010 )
2011
2
Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. ( 15998695 )
2005

Variations for Cardiomyopathy, Dilated, 1ee

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

76
# 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 (show all 30)
# 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.3010G> T (p.Ala1004Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143978652 GRCh37 Chromosome 14, 23862646: 23862646
4 MYH6 NM_002471.3(MYH6): c.3010G> T (p.Ala1004Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143978652 GRCh38 Chromosome 14, 23393437: 23393437
5 MYH6 NM_002471.3(MYH6): c.4369G> A (p.Glu1457Lys) single nucleotide variant Pathogenic rs267606905 GRCh37 Chromosome 14, 23857123: 23857123
6 MYH6 NM_002471.3(MYH6): c.4369G> A (p.Glu1457Lys) single nucleotide variant Pathogenic rs267606905 GRCh38 Chromosome 14, 23387914: 23387914
7 MYH6 NM_002471.3(MYH6): c.2611C> T (p.Arg871Cys) single nucleotide variant Uncertain significance rs376682837 GRCh37 Chromosome 14, 23863351: 23863351
8 MYH6 NM_002471.3(MYH6): c.2611C> T (p.Arg871Cys) single nucleotide variant Uncertain significance rs376682837 GRCh38 Chromosome 14, 23394142: 23394142
9 MYH6 NM_002471.3(MYH6): c.2928+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs28730772 GRCh37 Chromosome 14, 23862870: 23862870
10 MYH6 NM_002471.3(MYH6): c.2928+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs28730772 GRCh38 Chromosome 14, 23393661: 23393661
11 MYH6 NM_002471.3(MYH6): c.292G> A (p.Glu98Lys) single nucleotide variant Uncertain significance rs140596256 GRCh37 Chromosome 14, 23874889: 23874889
12 MYH6 NM_002471.3(MYH6): c.292G> A (p.Glu98Lys) single nucleotide variant Uncertain significance rs140596256 GRCh38 Chromosome 14, 23405680: 23405680
13 MYH6 NM_002471.3(MYH6): c.4505G> A (p.Arg1502Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199936506 GRCh37 Chromosome 14, 23856987: 23856987
14 MYH6 NM_002471.3(MYH6): c.4505G> A (p.Arg1502Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199936506 GRCh38 Chromosome 14, 23387778: 23387778
15 MYH6 NM_002471.3(MYH6): c.3508G> A (p.Glu1170Lys) single nucleotide variant Uncertain significance rs727503236 GRCh37 Chromosome 14, 23859490: 23859490
16 MYH6 NM_002471.3(MYH6): c.3508G> A (p.Glu1170Lys) single nucleotide variant Uncertain significance rs727503236 GRCh38 Chromosome 14, 23390281: 23390281
17 MYH6 NM_002471.3(MYH6): c.5135G> T (p.Ser1712Ile) single nucleotide variant Uncertain significance rs201383498 GRCh37 Chromosome 14, 23855165: 23855165
18 MYH6 NM_002471.3(MYH6): c.5135G> T (p.Ser1712Ile) single nucleotide variant Uncertain significance rs201383498 GRCh38 Chromosome 14, 23385956: 23385956
19 MYH6 NM_002471.3(MYH6): c.115G> A (p.Val39Met) single nucleotide variant Uncertain significance rs142850511 GRCh38 Chromosome 14, 23407109: 23407109
20 MYH6 NM_002471.3(MYH6): c.115G> A (p.Val39Met) single nucleotide variant Uncertain significance rs142850511 GRCh37 Chromosome 14, 23876318: 23876318
21 MYH6 NM_002471.3(MYH6): c.1244G> C (p.Gly415Ala) single nucleotide variant Uncertain significance rs759520932 GRCh37 Chromosome 14, 23870084: 23870084
22 MYH6 NM_002471.3(MYH6): c.1244G> C (p.Gly415Ala) single nucleotide variant Uncertain significance rs759520932 GRCh38 Chromosome 14, 23400875: 23400875
23 MYH6 NM_002471.3(MYH6): c.3604G> A (p.Val1202Met) single nucleotide variant Uncertain significance rs368451573 GRCh37 Chromosome 14, 23859394: 23859394
24 MYH6 NM_002471.3(MYH6): c.3604G> A (p.Val1202Met) single nucleotide variant Uncertain significance rs368451573 GRCh38 Chromosome 14, 23390185: 23390185
25 MYH6 NM_002471.3(MYH6): c.5077G> A (p.Val1693Met) single nucleotide variant Uncertain significance rs373457153 GRCh37 Chromosome 14, 23855223: 23855223
26 MYH6 NM_002471.3(MYH6): c.5077G> A (p.Val1693Met) single nucleotide variant Uncertain significance rs373457153 GRCh38 Chromosome 14, 23386014: 23386014
27 MYH6 NM_002471.3(MYH6): c.1521T> G (p.Ile507Met) single nucleotide variant Uncertain significance rs142410102 GRCh37 Chromosome 14, 23869525: 23869525
28 MYH6 NM_002471.3(MYH6): c.1521T> G (p.Ile507Met) single nucleotide variant Uncertain significance rs142410102 GRCh38 Chromosome 14, 23400316: 23400316
29 MYH6 NM_002471.3(MYH6): c.2576G> C (p.Gly859Ala) single nucleotide variant Uncertain significance rs779528748 GRCh37 Chromosome 14, 23863386: 23863386
30 MYH6 NM_002471.3(MYH6): c.2576G> C (p.Gly859Ala) single nucleotide variant Uncertain significance rs779528748 GRCh38 Chromosome 14, 23394177: 23394177

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

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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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