CMD1E
MCID: CRD099
MIFTS: 53

Cardiomyopathy, Dilated, 1e (CMD1E)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1e

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1e:

Name: Cardiomyopathy, Dilated, 1e 57 13 71
Left Ventricular Noncompaction 9 57 73 29 6 71
Left Ventricular Noncompaction 5 57 20 29 6 71
Dilated Cardiomyopathy 1e 12 20 29 6 15
Cardiomyopathy, Dilated, 1s 57 20 13 71
Dilated Cardiomyopathy with Conduction Disorder and Arrhythmia 12 20 73
Dilated Cardiomyopathy with Conduction Defect 2 12 20 73
Cardiomyopathy, Dilated, 1y 57 13 71
Dilated Cardiomyopathy 1s 12 29 6
Dilated Cardiomyopathy 1y 12 29 6
Cmd1e 57 12 73
Cdcd2 57 12 73
Cmd1y 57 12 73
Cmd1s 57 12 73
Cardiomyopathy, Dilated, with Conduction Disorder and Arrhythmia 57
Cardiomyopathy, Dilated, with Conduction Defect 2; Cdcd2 57
Cardiomyopathy, Dilated, with Conduction Defect 2 57
Left Ventricular Non-Compaction 5 73
Left Ventricular Non-Compaction 9 73
Cardiomyopathy, Dilated, Type 1e 39
Cardiomyopathy, Dilated, Type 1s 39
Cardiomyopathy, Dilated, Type 1y 39
Cardiomyopathy, Dilated 1e 73
Cardiomyopathy, Dilated 1s 73
Cardiomyopathy, Dilated 1y 73
Dilated Cardiomyopathy-1e 20
Dilated Cardiomyopathy-1s 20
Lvnc5 73
Lvnc9 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
patients may require implantable cardioverter defibrillators
may result in sudden death


HPO:

31
cardiomyopathy, dilated, 1e:
Inheritance autosomal dominant inheritance

cardiomyopathy, dilated, 1y:
Inheritance autosomal dominant inheritance

cardiomyopathy, dilated, 1s:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiomyopathy, Dilated, 1e

UniProtKB/Swiss-Prot : 73 Cardiomyopathy, dilated 1E: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Cardiomyopathy, dilated 1S: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Cardiomyopathy, dilated 1Y: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Left ventricular non-compaction 5: A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC5 is an autosomal dominant condition.
Left ventricular non-compaction 9: A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC9 is an autosomal dominant condition.

MalaCards based summary : Cardiomyopathy, Dilated, 1e, also known as left ventricular noncompaction 9, is related to autosomal dominant distal myopathy and familial isolated arrhythmogenic right ventricular dysplasia, and has symptoms including syncope An important gene associated with Cardiomyopathy, Dilated, 1e is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are Cardiac conduction and cGMP-PKG signaling pathway. Affiliated tissues include heart, and related phenotypes are bicuspid aortic valve and coarctation of aorta

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the SCN5A gene on chromosome 3p22.2.

More information from OMIM: 601154 611878 613426 PS115200 PS604169

Related Diseases for Cardiomyopathy, Dilated, 1e

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, 1e via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant distal myopathy 10.4 MYH7 DES
2 familial isolated arrhythmogenic right ventricular dysplasia 10.4 SCN5A PKP2
3 cardioneuromyopathy with hyaline masses and nemaline rods 10.4 TTN DES
4 left ventricular noncompaction 1 10.4 SCN5A PKP2
5 laminopathy 10.4 SCN5A LMNA
6 cardiomyopathy, dilated, 1ee 10.4 TPM1 TNNC1
7 reducing body myopathy 10.4 TTN DES
8 first-degree atrioventricular block 10.4 SCN5A MYH7 LMNA
9 left ventricular noncompaction 2 10.4 TTN-AS1 TTN
10 ebstein anomaly 10.4 TPM1 SCN5A MYH7
11 cardiac conduction defect 10.4 SCN5A MYH7 LMNA
12 left bundle branch hemiblock 10.4 SCN5A PKP2 LMNA
13 muscular disease 10.3 TTN MYH7 LMNA
14 cardiomyopathy, familial hypertrophic, 26 10.3 TNNC1 RBM20
15 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.3 SCN5A PKP2 MYH7
16 cardiomyopathy, familial hypertrophic, 4 10.3 TTN TPM1 MYH7
17 peripartum cardiomyopathy 10.3 TTN SCN5A MYH7
18 multiminicore disease 10.3 TTN-AS1 TTN
19 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.3 TTN PKP2 LMNA
20 cardiomyopathy, dilated, 1dd 10.3 TTN RBM20
21 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.3 TTN PKP2 LMNA
22 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.3 TTN PKP2 LMNA
23 hereditary proximal myopathy with early respiratory failure 10.3 TTN-AS1 TTN
24 autosomal recessive limb-girdle muscular dystrophy type 2g 10.3 TTN DES
25 sick sinus syndrome 10.3 TTN SCN5A LMNA
26 isolated elevated serum creatine phosphokinase levels 10.3 TTN SCN5A LMNA
27 wolff-parkinson-white syndrome 10.3 TTN-AS1 SCN5A MYH7
28 third-degree atrioventricular block 10.3 TTN-AS1 TTN SCN5A
29 mobitz type ii atrioventricular block 10.3 MYH7 LMNA
30 rigid spine muscular dystrophy 1 10.3 TTN MYH7 LMNA
31 limb-girdle muscular dystrophy 10.3 TTN-AS1 TTN LMNA
32 alzheimer disease 15 10.3 TIPRL LMNA
33 myopathy, myofibrillar, 9, with early respiratory failure 10.3 TTN-AS1 TTN MYH7
34 brugada syndrome 5 10.3 SCN5A LMNA
35 tibial muscular dystrophy 10.3 TTN-AS1 TTN MYH7
36 miyoshi muscular dystrophy 10.3 TTN MYH7 DES
37 arrhythmogenic right ventricular dysplasia, familial, 1 10.3 TTN-AS1 TTN PKP2
38 cardiac arrest 10.3 TTN SCN5A MYH7
39 mitochondrial dna depletion syndrome 12b 10.3 TTN SCN5A RBM20 MYH7
40 salih myopathy 10.3 TTN-AS1 TTN
41 atrial fibrillation 10.3 TTN SCN5A MYH7 LMNA
42 arrhythmogenic right ventricular dysplasia, familial, 9 10.3 PKP2 LMNA
43 proximal spinal muscular atrophy 10.3 LMNA DES
44 centronuclear myopathy 10.2 TTN-AS1 TTN DES
45 muscle tissue disease 10.2 TTN MYH7 LMNA
46 batten-turner congenital myopathy 10.2 TTN-AS1 TTN MYH7 DES
47 congenital fiber-type disproportion 10.2 TTN MYL2 MYH7 LMNA
48 long qt syndrome 2 10.2 SCN5A PKP2 MYH7 KCNIP2
49 lmna-related dilated cardiomyopathy 10.2 TTN-AS1 TTN RBM20 LMNA
50 emery-dreifuss muscular dystrophy 10.2 TTN LMNA DES

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



Diseases related to Cardiomyopathy, Dilated, 1e

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1e

Human phenotypes related to Cardiomyopathy, Dilated, 1e:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 bicuspid aortic valve 31 occasional (7.5%) HP:0001647
2 coarctation of aorta 31 occasional (7.5%) HP:0001680
3 tricuspid regurgitation 31 occasional (7.5%) HP:0005180
4 pulmonary artery hypoplasia 31 occasional (7.5%) HP:0004971
5 ventricular arrhythmia 31 occasional (7.5%) HP:0004308
6 left ventricular noncompaction 31 occasional (7.5%) HP:0030682
7 mitral regurgitation 31 very rare (1%) HP:0001653
8 congestive heart failure 31 HP:0001635
9 dilated cardiomyopathy 31 HP:0001644
10 atrioventricular block 31 HP:0001678
11 stroke 31 HP:0001297
12 syncope 31 HP:0001279
13 atrial fibrillation 31 HP:0005110
14 right bundle branch block 31 HP:0011712
15 ventricular extrasystoles 31 HP:0006682
16 ventricular tachycardia 31 HP:0004756
17 palpitations 31 HP:0001962
18 reduced systolic function 31 HP:0006673
19 supraventricular tachycardia 31 HP:0004755
20 atrial flutter 31 HP:0004749
21 left bundle branch block 31 HP:0011713
22 premature atrial contractions 31 HP:0006699
23 atrial standstill 31 HP:0025478

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Heart:
atrioventricular block
syncope
atrial fibrillation
right bundle branch block
palpitations
more

Clinical features from OMIM®:

601154 611878 613426 (Updated 05-Mar-2021)

UMLS symptoms related to Cardiomyopathy, Dilated, 1e:


syncope

MGI Mouse Phenotypes related to Cardiomyopathy, Dilated, 1e:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.93 DES KCNIP2 LMNA MYH7 MYL2 NEXN
2 mortality/aging MP:0010768 9.77 ABTB2 DES KDM4C LMNA MYH7 MYL2
3 muscle MP:0005369 9.36 DES LMNA MYH7 MYL2 NEXN PKP2

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1e

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

Genetic Tests for Cardiomyopathy, Dilated, 1e

Genetic tests related to Cardiomyopathy, Dilated, 1e:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1s 29 MYH7
2 Dilated Cardiomyopathy 1e 29 SCN5A
3 Dilated Cardiomyopathy 1y 29 TPM1
4 Left Ventricular Noncompaction 5 29
5 Left Ventricular Noncompaction 9 29

Anatomical Context for Cardiomyopathy, Dilated, 1e

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

40
Heart

Publications for Cardiomyopathy, Dilated, 1e

Articles related to Cardiomyopathy, Dilated, 1e:

(show all 28)
# Title Authors PMID Year
1
SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. 6 57 61
15466643 2004
2
Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q. 57 6
22710484 2012
3
R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy. 57 6
22999724 2012
4
Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy. 57 6
22766342 2012
5
Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. 57 6
19412328 2008
6
Letter regarding article by McNair et al, "SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia". 57 6
15998690 2005
7
Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. 57 6
15671429 2005
8
A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. 6 57
12522116 2003
9
Familial automaticity-conduction disorder with associated cardiomyopathy. 6 57
3953067 1986
10
Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation. 6
29024827 2018
11
Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo α-tropomyosin gene mutation. 6
27177193 2016
12
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. 6
21551322 2011
13
Mutations in the sarcomere gene MYH7 in Ebstein anomaly. 6
21127202 2011
14
SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del. 57
21167004 2010
15
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. 6
19336582 2009
16
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. 6
19138847 2009
17
Mutations in sarcomere protein genes in left ventricular noncompaction. 6
18506004 2008
18
Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred. 6
16684601 2006
19
SCN5A mutation associated with cardiac conduction defect and atrial arrhythmias. 6
16684018 2006
20
Gene mutations in apical hypertrophic cardiomyopathy. 6
16267253 2005
21
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). 6
14523039 2003
22
Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients. 6
12749056 2003
23
Novel mutations in sarcomeric protein genes in dilated cardiomyopathy. 6
12379228 2002
24
Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. 6
11273725 2001
25
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. 6
11106718 2000
26
Mapping a cardiomyopathy locus to chromosome 3p22-p25. 57
8567977 1996
27
Familial myopathy with probable lysis of myofibrils in type I fibers. 6
4104682 1971
28
[Genetic linkage analysis in localizing a gene of autosomal dominant familial dilated cardiomyopathy with conduction defect]. 61
16320577 2005

Variations for Cardiomyopathy, Dilated, 1e

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

6 (show top 50) (show all 418)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYH7 NM_000257.4(MYH7):c.5296G>A (p.Ala1766Thr) SNV Pathogenic 14128 rs267606909 14:23884467-23884467 14:23415258-23415258
2 MYH7 NM_000257.4(MYH7):c.847T>G (p.Tyr283Asp) SNV Pathogenic 66081 rs397515482 14:23900158-23900158 14:23430949-23430949
3 SCN5A NM_198056.2(SCN5A):c.3823G>A (p.Asp1275Asn) SNV Pathogenic 9401 rs137854618 3:38607917-38607917 3:38566426-38566426
4 SCN5A NM_000335.4(SCN5A):c.2548_2549GT[3] (p.Phe851fs) Microsatellite Pathogenic 201560 rs397514450 3:38627417-38627418 3:38585926-38585927
5 SCN5A NM_198056.2(SCN5A):c.4783G>C (p.Asp1595His) SNV Pathogenic 9406 rs137854607 3:38595800-38595800 3:38554309-38554309
6 TPM1 NM_001018005.2(TPM1):c.160G>A (p.Glu54Lys) SNV Pathogenic 12458 rs104894505 15:63336271-63336271 15:63044072-63044072
7 TPM1 NM_001018005.2(TPM1):c.118G>A (p.Glu40Lys) SNV Pathogenic 12459 rs104894501 15:63336229-63336229 15:63044030-63044030
8 MYH7 NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro) SNV Pathogenic 14108 rs121913642 14:23897088-23897088 14:23427879-23427879
9 MYH7 NM_000257.4(MYH7):c.2292C>G (p.Phe764Leu) SNV Pathogenic 14109 rs121913643 14:23894622-23894622 14:23425413-23425413
10 MYH7 NM_000257.4(MYH7):c.667G>A (p.Ala223Thr) SNV Pathogenic 14112 rs121913645 14:23900859-23900859 14:23431650-23431650
11 MYH7 NM_000257.4(MYH7):c.1925C>T (p.Ser642Leu) SNV Pathogenic 14113 rs121913646 14:23896480-23896480 14:23427271-23427271
12 MYH7 NM_000257.4(MYH7):c.728G>A (p.Arg243His) SNV Pathogenic 14126 rs267606910 14:23900798-23900798 14:23431589-23431589
13 MYH7 NM_000257.4(MYH7):c.732+1G>A SNV Pathogenic 14127 rs730880850 14:23900793-23900793 14:23431584-23431584
14 SCN5A NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) SNV Pathogenic 39444 rs45546039 3:38655272-38655272 3:38613781-38613781
15 SCN5A NM_000335.4(SCN5A):c.5504T>C (p.Ile1835Thr) SNV Pathogenic 39445 rs45563942 3:38592356-38592356 3:38550865-38550865
16 TPM1 NM_001018005.2(TPM1):c.742A>G (p.Lys248Glu) SNV Pathogenic 31901 rs199476319 15:63354814-63354814 15:63062615-63062615
17 TPM1 NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) SNV Pathogenic 31882 rs199476315 15:63353922-63353922 15:63061723-63061723
18 LMNA NM_170707.4(LMNA):c.904_905CT[2] (p.Ser303fs) Microsatellite Pathogenic 66955 rs59684335 1:156105071-156105072 1:156135280-156135281
19 RBM20 NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) SNV Pathogenic 268 rs267607003 10:112572068-112572068 10:110812310-110812310
20 DES NM_001927.4(DES):c.1333_1336del (p.Lys444_Thr445insTer) Deletion Pathogenic 265807 rs1114167327 2:220290428-220290431 2:219425706-219425709
21 DES NM_001927.4(DES):c.493_520delinsGCGT (p.Gln165_Ala174delinsAlaSer) Indel Pathogenic 265817 rs1114167332 2:220283677-220283704 2:219418955-219418982
22 LMNA NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) SNV Pathogenic 66908 rs59026483 1:156104248-156104248 1:156134457-156134457
23 MYH7 NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) SNV Pathogenic 42874 rs397516127 14:23896043-23896043 14:23426834-23426834
24 MYH7 NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) SNV Pathogenic 132925 rs606231324 14:23897714-23897714 14:23428505-23428505
25 SCN5A NM_198056.2(SCN5A):c.612-229T>G SNV Pathogenic 587531 rs765669597 3:38655554-38655554 3:38614063-38614063
26 TPM1 NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) SNV Pathogenic 43420 rs397516373 15:63351862-63351862 15:63059663-63059663
27 TPM1 NM_001018005.2(TPM1):c.337C>G (p.Leu113Val) SNV Pathogenic 43414 rs397516369 15:63349280-63349280 15:63057081-63057081
28 MYH7 NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) SNV Pathogenic 14088 rs3218713 14:23900677-23900677 14:23431468-23431468
29 SCN5A NM_198056.2(SCN5A):c.5872C>T (p.Arg1958Ter) SNV Pathogenic 201546 rs757532106 3:38591991-38591991 3:38550500-38550500
30 SCN5A NM_198056.2(SCN5A):c.1099C>T (p.Arg367Cys) SNV Pathogenic 67633 rs199473097 3:38648201-38648201 3:38606710-38606710
31 SCN5A NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) SNV Pathogenic 39444 rs45546039 3:38655272-38655272 3:38613781-38613781
32 TPM1 NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) SNV Pathogenic 31884 rs199476317 15:63354462-63354462 15:63062263-63062263
33 MYH7 NM_000257.4(MYH7):c.1963C>A (p.Leu655Met) SNV Pathogenic 619177 rs1595084583 14:23896067-23896067 14:23426858-23426858
34 TPM1 NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) SNV Pathogenic 12456 rs104894503 15:63353098-63353098 15:63060899-63060899
35 MYH7 NM_000257.4(MYH7):c.2163-1G>A SNV Pathogenic 132914 rs606231334 14:23895028-23895028 14:23425819-23425819
36 MYH7 NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro) SNV Pathogenic 14123 rs121913654 14:23884385-23884385 14:23415176-23415176
37 MYH7 NM_000257.4(MYH7):c.5754C>R (p.Asn1918Lys) SNV Pathogenic 66082 rs138110910 14:23883004-23883004 14:23413795-23413795
38 MYH7 NM_000257.4(MYH7):c.5378_5380del (p.Leu1793del) Deletion Pathogenic 143218 rs587779396 14:23884383-23884385 14:23415174-23415176
39 MYH7 NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) SNV Pathogenic 43088 rs397516254 14:23883018-23883018 14:23413809-23413809
40 SCN5A NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) SNV Pathogenic 9396 rs45620037 3:38655278-38655278 3:38613787-38613787
41 MYH7 NM_000257.4(MYH7):c.1988G>A (p.Arg663His) SNV Pathogenic 42875 rs371898076 14:23896042-23896042 14:23426833-23426833
42 MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) SNV Pathogenic 42901 rs3218716 14:23894525-23894525 14:23425316-23425316
43 MYH7 NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) SNV Pathogenic 14102 rs3218714 14:23898488-23898488 14:23429279-23429279
44 MYH7 NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) SNV Pathogenic 14092 rs121913628 14:23893268-23893268 14:23424059-23424059
45 MYH7 NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) SNV Pathogenic 14125 rs267606908 14:23893321-23893321 14:23424112-23424112
46 MYH7 NM_000257.4(MYH7):c.1988G>A (p.Arg663His) SNV Pathogenic 42875 rs371898076 14:23896042-23896042 14:23426833-23426833
47 MYH7 NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) Deletion Pathogenic 42913 rs397516155 14:23894116-23894118 14:23424907-23424909
48 MYH7 NM_000257.4(MYH7):c.2513C>T (p.Pro838Leu) SNV Pathogenic 42910 rs397516153 14:23894144-23894144 14:23424935-23424935
49 MYH7 NM_000257.4(MYH7):c.1559G>T (p.Cys520Phe) SNV Likely pathogenic 973314 14:23897728-23897728 14:23428519-23428519
50 LMNA NM_170707.4(LMNA):c.1634G>A (p.Arg545His) SNV Likely pathogenic 163878 rs142191737 1:156107470-156107470 1:156137679-156137679

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

73 (show all 26)
# Symbol AA change Variation ID SNP ID
1 MYH7 p.Ala223Thr VAR_017746 rs121913645
2 MYH7 p.Ser532Pro VAR_017747 rs121913642
3 MYH7 p.Ser642Leu VAR_017748 rs121913646
4 MYH7 p.Phe764Leu VAR_017751 rs121913643
5 MYH7 p.Ile201Thr VAR_042768 rs397516258
6 MYH7 p.Thr412Asn VAR_042781
7 MYH7 p.Ala550Val VAR_042794
8 MYH7 p.Thr1019Asn VAR_042819 rs755392435
9 MYH7 p.Arg1193Ser VAR_042822 rs886039090
10 MYH7 p.Glu1426Lys VAR_042826 rs397516208
11 MYH7 p.Lys1459Asn VAR_042828 rs201307101
12 MYH7 p.Val1044Ala VAR_067260
13 MYH7 p.Ala1263Glu VAR_067262 rs758889483
14 MYH7 p.Leu1297Val VAR_067263
15 MYH7 p.Arg243His VAR_073876 rs267606910
16 MYH7 p.Tyr283Asp VAR_073877 rs397515482
17 MYH7 p.Tyr350Asn VAR_073878
18 MYH7 p.Leu390Pro VAR_073879
19 MYH7 p.Ser1776Thr VAR_073885
20 MYH7 p.Asn1918Lys VAR_073888
21 MYH7 p.Phe252Leu VAR_080399
22 SCN5A p.Asp1275Asn VAR_026373 rs137854618
23 TPM1 p.Glu40Lys VAR_043986 rs104894501
24 TPM1 p.Glu54Lys VAR_043987 rs104894505
25 TPM1 p.Glu192Lys VAR_070121 rs199476315
26 TPM1 p.Lys248Glu VAR_070122 rs199476319

Expression for Cardiomyopathy, Dilated, 1e

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

Pathways for Cardiomyopathy, Dilated, 1e

GO Terms for Cardiomyopathy, Dilated, 1e

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

# Name GO ID Score Top Affiliating Genes
1 stress fiber GO:0001725 9.5 XIRP1 TPM1 MYH7
2 contractile fiber GO:0043292 9.37 TNNC1 DES
3 sarcomere GO:0030017 9.33 TPM1 MYL2 MYH7
4 cardiac myofibril GO:0097512 9.26 MYL2 DES
5 intercalated disc GO:0014704 9.13 SCN5A PKP2 DES
6 Z disc GO:0030018 9.02 TTN SCN5A NEXN MYH7 DES

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.65 TTN TPM1 MYH7 KCNIP2 DES
2 cardiac muscle contraction GO:0060048 9.55 TTN TPM1 TNNC1 SCN5A MYH7
3 regulation of the force of heart contraction GO:0002026 9.52 MYL2 MYH7
4 regulation of muscle contraction GO:0006937 9.51 TPM1 TNNC1
5 regulation of heart contraction GO:0008016 9.5 TPM1 KCNIP2 DES
6 ventricular cardiac muscle cell action potential GO:0086005 9.49 SCN5A PKP2
7 cardiac muscle cell action potential involved in contraction GO:0086002 9.48 SCN5A PKP2
8 positive regulation of sodium ion transport GO:0010765 9.46 SCN5A PKP2
9 striated muscle contraction GO:0006941 9.43 TTN MYH7
10 cardiac myofibril assembly GO:0055003 9.4 TTN MYL2
11 transition between fast and slow fiber GO:0014883 9.37 TNNC1 MYH7
12 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.35 TPM1 TNNC1 PKP2 MYL2 MYH7
13 muscle filament sliding GO:0030049 9.1 TTN TPM1 TNNC1 MYL2 MYH7 DES

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

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.33 SCN5A PKP2 KCNIP2
2 structural constituent of muscle GO:0008307 9.26 TTN TPM1 NEXN MYL2
3 actin filament binding GO:0051015 9.1 XIRP1 TTN TPM1 TNNC1 NEXN MYH7

Sources for Cardiomyopathy, Dilated, 1e

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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