CMD1EE
MCID: CRD096
MIFTS: 31

Cardiomyopathy, Dilated, 1ee (CMD1EE)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1ee

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1ee:

Name: Cardiomyopathy, Dilated, 1ee 57 13 70
Dilated Cardiomyopathy 1ee 12 29 6 15
Cmd1ee 57 12 72
Cardiomyopathy, Dilated, Type 1ee 39
Cardiomyopathy, Dilated 1ee 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


Classifications:



External Ids:

Disease Ontology 12 DOID:0110453
OMIM® 57 613252
OMIM Phenotypic Series 57 PS115200
MeSH 44 D002311
ICD10 32 I42.0
MedGen 41 C2750466
SNOMED-CT via HPO 68 195021004 399020009
UMLS 70 C2750466

Summaries for Cardiomyopathy, Dilated, 1ee

UniProtKB/Swiss-Prot : 72 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 cardiomyopathy, dilated, 1e and ebstein anomaly. An important gene associated with Cardiomyopathy, Dilated, 1ee is MYH6 (Myosin Heavy Chain 6), and among its related pathways/superpathways are Cardiac conduction and cGMP-PKG signaling pathway. 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.

More information from OMIM: 613252 PS115200

Related Diseases for Cardiomyopathy, Dilated, 1ee

Diseases in the Rare Cardiomyopathy family:

Cardiomyopathy, Dilated, 1a Cardiomyopathy, Dilated, 3b
Cardiomyopathy, Dilated, 1b Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1d Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1i
Cardiomyopathy, Dilated, 1j Cardiomyopathy, Dilated, 1k
Cardiomyopathy, Dilated, 1l Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1o Cardiomyopathy, Dilated, 1p
Cardiomyopathy, Dilated, 1q Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 2a Cardiomyopathy, Dilated, 1bb
Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1ee Cardiomyopathy, Dilated, 1ff
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1gg
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1v
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 2b
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1kk Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 2c Autoimmune Cardiomyopathy
Dilated Cardiomyopathy 1t Dilated Cardiomyopathy
Lmna-Related Dilated Cardiomyopathy Cardiomyopathy Due to Anthracyclines

Diseases related to Cardiomyopathy, Dilated, 1ee via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1e 9.8 TPM1 TNNC1
2 ebstein anomaly 9.8 TPM1 MYH6
3 interatrial communication 9.8 TPM1 MYH6
4 intrinsic cardiomyopathy 9.7 TPM1 MYH6
5 catecholaminergic polymorphic ventricular tachycardia 9.7 TPM1 MYH6
6 restrictive cardiomyopathy 9.6 TPM1 TNNC1 MYH6
7 left ventricular noncompaction 9.5 TPM1 TNNC1 MYH6
8 atrial standstill 1 9.5 TPM1 MYH6
9 hypertrophic cardiomyopathy 9.4 TPM1 TNNC1 MYH6
10 cardiomyopathy, familial hypertrophic, 13 9.3 TNNC1 SMTNL1 CRACR2B CKMT1B
11 cardiomyopathy, familial hypertrophic, 1 9.0 TPM1 TNNC1 SMTNL1 MYH6 CRACR2B

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, 1ee:



Diseases related to Cardiomyopathy, Dilated, 1ee

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1ee

Human phenotypes related to Cardiomyopathy, Dilated, 1ee:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
dilated cardiomyopathy

Clinical features from OMIM®:

613252 (Updated 20-May-2021)

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:

40
Heart

Publications for Cardiomyopathy, Dilated, 1ee

Articles related to Cardiomyopathy, Dilated, 1ee:

# Title Authors PMID Year
1
Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. 57 6
15998695 2005

Variations for Cardiomyopathy, Dilated, 1ee

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

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYH6 NM_002471.3(MYH6):c.2489C>T (p.Pro830Leu) SNV Pathogenic 14150 rs267606906 GRCh37: 14:23863473-23863473
GRCh38: 14:23394264-23394264
2 MYH6 NM_002471.3(MYH6):c.4369G>A (p.Glu1457Lys) SNV Pathogenic 14152 rs267606905 GRCh37: 14:23857123-23857123
GRCh38: 14:23387914-23387914
3 MYH6 NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) SNV Pathogenic 14151 rs143978652 GRCh37: 14:23862646-23862646
GRCh38: 14:23393437-23393437
4 MYH6 NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys) SNV Uncertain significance 164230 rs727503236 GRCh37: 14:23859490-23859490
GRCh38: 14:23390281-23390281
5 MYH6 NM_002471.3(MYH6):c.5135G>T (p.Ser1712Ile) SNV Uncertain significance 191709 rs201383498 GRCh37: 14:23855165-23855165
GRCh38: 14:23385956-23385956
6 MYH6 NM_002471.3(MYH6):c.5077G>A (p.Val1693Met) SNV Uncertain significance 373555 rs373457153 GRCh37: 14:23855223-23855223
GRCh38: 14:23386014-23386014
7 MYH6 NM_002471.3(MYH6):c.3604G>A (p.Val1202Met) SNV Uncertain significance 312860 rs368451573 GRCh37: 14:23859394-23859394
GRCh38: 14:23390185-23390185
8 MYH6 NM_002471.4(MYH6):c.2611C>T (p.Arg871Cys) SNV Uncertain significance 44469 rs376682837 GRCh37: 14:23863351-23863351
GRCh38: 14:23394142-23394142
9 MYH6 NM_002471.3(MYH6):c.2576G>C (p.Gly859Ala) SNV Uncertain significance 537946 rs779528748 GRCh37: 14:23863386-23863386
GRCh38: 14:23394177-23394177
10 MYH6 NM_002471.3(MYH6):c.1521T>G (p.Ile507Met) SNV Uncertain significance 432873 rs142410102 GRCh37: 14:23869525-23869525
GRCh38: 14:23400316-23400316
11 MYH6 NM_002471.3(MYH6):c.1244G>C (p.Gly415Ala) SNV Uncertain significance 239163 rs759520932 GRCh37: 14:23870084-23870084
GRCh38: 14:23400875-23400875
12 LOC114827851 , MYH6 NM_002471.4(MYH6):c.292G>A (p.Glu98Lys) SNV Uncertain significance 44474 rs140596256 GRCh37: 14:23874889-23874889
GRCh38: 14:23405680-23405680
13 LOC114827851 , MYH6 NM_002471.3(MYH6):c.115G>A (p.Val39Met) SNV Uncertain significance 191724 rs142850511 GRCh37: 14:23876318-23876318
GRCh38: 14:23407109-23407109
14 MYH6 NM_002471.3(MYH6):c.5519A>G (p.Lys1840Arg) SNV Uncertain significance 264214 rs373629059 GRCh37: 14:23853697-23853697
GRCh38: 14:23384488-23384488
15 LOC114827851 , MYH6 NM_002471.4(MYH6):c.493A>T (p.Met165Leu) SNV Uncertain significance 1032062 GRCh37: 14:23874441-23874441
GRCh38: 14:23405232-23405232
16 MYH6 NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln) SNV Uncertain significance 44513 rs199936506 GRCh37: 14:23856987-23856987
GRCh38: 14:23387778-23387778
17 MYH6 NM_002471.4(MYH6):c.2928+5G>A SNV Benign 44473 rs28730772 GRCh37: 14:23862870-23862870
GRCh38: 14:23393661-23393661

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

72
# 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

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

Cellular components related to Cardiomyopathy, Dilated, 1ee according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stress fiber GO:0001725 9.26 TPM1 MYH6
2 sarcomere GO:0030017 9.16 TPM1 MYH6
3 myofibril GO:0030016 8.96 SMTNL1 MYH6
4 contractile fiber GO:0043292 8.62 TNNC1 SMTNL1

Biological processes related to Cardiomyopathy, Dilated, 1ee according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.43 TPM1 MYH6
2 sarcomere organization GO:0045214 9.4 TPM1 MYH6
3 regulation of heart contraction GO:0008016 9.37 TPM1 MYH6
4 cardiac muscle contraction GO:0060048 9.33 TPM1 TNNC1 MYH6
5 regulation of muscle contraction GO:0006937 9.32 TPM1 TNNC1
6 regulation of ATPase activity GO:0043462 9.26 TNNC1 MYH6
7 muscle filament sliding GO:0030049 9.13 TPM1 TNNC1 MYH6
8 ventricular cardiac muscle tissue morphogenesis GO:0055010 8.8 TPM1 TNNC1 MYH6

Molecular functions related to Cardiomyopathy, Dilated, 1ee according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 8.8 TPM1 TNNC1 MYH6

Sources for Cardiomyopathy, Dilated, 1ee

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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