CMD1E
MCID: CRD099
MIFTS: 51

Cardiomyopathy, Dilated, 1e (CMD1E)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1e

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1e:

Name: Cardiomyopathy, Dilated, 1e 56 13 71
Left Ventricular Noncompaction 9 56 73 29 6 71
Left Ventricular Noncompaction 5 56 52 29 6 71
Cardiomyopathy, Dilated, 1s 56 52 13 71
Dilated Cardiomyopathy 1e 12 29 6 15
Cardiomyopathy, Dilated, 1y 56 13 71
Dilated Cardiomyopathy 1s 12 29 6
Dilated Cardiomyopathy 1y 12 29 6
Cmd1e 56 12 73
Cdcd2 56 12 73
Cmd1y 56 12 73
Cmd1s 56 12 73
Dilated Cardiomyopathy with Conduction Disorder and Arrhythmia 12 73
Dilated Cardiomyopathy with Conduction Defect 2 12 73
Cardiomyopathy, Dilated, with Conduction Disorder and Arrhythmia 56
Cardiomyopathy, Dilated, with Conduction Defect 2; Cdcd2 56
Cardiomyopathy Dilated with Conduction Defect Type 2 52
Cardiomyopathy, Dilated, with Conduction Defect 2 56
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-1s 52
Lvnc5 73
Lvnc9 73

Characteristics:

OMIM:

56
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 campomelic dysplasia and autosomal dominant distal myopathy, 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 Dilated cardiomyopathy (DCM). Affiliated tissues include heart, testes and bone, 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 55)
# Related Disease Score Top Affiliating Genes
1 campomelic dysplasia 11.6
2 autosomal dominant distal myopathy 10.6 MYH7 DES
3 cardioneuromyopathy with hyaline masses and nemaline rods 10.6 TTN DES
4 laminopathy 10.6 SCN5A LMNA
5 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.5 TTN LMNA
6 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.5 TTN LMNA
7 progressive familial heart block, type ia 10.5 SCN5A MYH7
8 first-degree atrioventricular block 10.5 SCN5A MYH7 LMNA
9 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.5 TTN LMNA
10 cardiac conduction defect 10.5 SCN5A MYH7 LMNA
11 ebstein anomaly 10.5 TPM1 SCN5A MYH7
12 cardiomyopathy, dilated, 1dd 10.5 TTN RBM20
13 peripartum cardiomyopathy 10.5 TTN SCN5A MYH7
14 proximal spinal muscular atrophy 10.5 LMNA DES
15 congenital structural myopathy 10.5 TTN TPM1 MYH7
16 muscular dystrophy, limb-girdle, autosomal dominant 1 10.5 TTN LMNA DES
17 sick sinus syndrome 10.5 TTN SCN5A LMNA
18 rigid spine muscular dystrophy 1 10.5 TTN MYH7 LMNA
19 myopathy, congenital 10.5 TTN MYH7 DES
20 congenital fiber-type disproportion 10.5 TTN MYH7 LMNA
21 miyoshi muscular dystrophy 10.5 TTN MYH7 DES
22 autosomal recessive limb-girdle muscular dystrophy type 2a 10.5 TTN LMNA
23 third-degree atrioventricular block 10.5 TTN SCN5A
24 syncope 10.4 TTN SCN5A
25 atrial fibrillation 10.4 TTN SCN5A MYH7 LMNA
26 catecholaminergic polymorphic ventricular tachycardia 10.4 TPM1 SCN5A MYH7 LMNA
27 atrial heart septal defect 10.4 TTN SCN5A MYH7
28 myofibrillar myopathy 10.4 TTN MYH7 LMNA DES
29 facioscapulohumeral muscular dystrophy 1 10.4 TTN LMNA KDM4C
30 left bundle branch hemiblock 10.4 SCN5A LMNA
31 rare cardiomyopathy 10.4 TTN RBM20 MYH7 LMNA
32 muscle tissue disease 10.4 TTN MYH7 LMNA
33 cardiac arrest 10.4 TTN SCN5A RBM20 MYH7
34 long qt syndrome 1 10.4 SCN5A MYH7 KCNIP2
35 reducing body myopathy 10.4 TTN DES
36 atrioventricular block 10.3 TTN SCN5A MYH7 LMNA DES
37 cardiomyopathy, dilated, 1b 10.3 TTN SCN5A RBM20 MYH7 LMNA
38 congenital fibrosarcoma 10.3 LMNA DES
39 restrictive cardiomyopathy 10.3 TTN TPM1 MYH7 LMNA DES
40 distal arthrogryposis 10.3 TTN TPM1 MYH7
41 neuromuscular disease 10.3 TTN SCN5A MYH7 LMNA DES
42 long qt syndrome 10.3 TTN SCN5A RBM20 MYH7 LMNA
43 muscular disease 10.3 TTN SCN5A MYH7 LMNA KDM4C
44 familial atrial fibrillation 10.3 TTN SCN5A MYH7 LMNA KCNIP2
45 tibial muscular dystrophy 10.3 TTN MYH7
46 familial isolated dilated cardiomyopathy 10.3 TTN TPM1 SCN5A RBM20 MYH7 DES
47 hypertrophic cardiomyopathy 10.3 TTN TPM1 SCN5A MYH7 LMNA DES
48 intrinsic cardiomyopathy 10.3 TTN TPM1 SCN5A RBM20 MYH7 LMNA
49 atrial standstill 1 10.2 TTN SCN5A RBM20 MYH7 LMNA DES
50 arrhythmogenic right ventricular cardiomyopathy 10.2 TTN SCN5A RBM20 MYH7 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 atrioventricular block 31 HP:0001678
9 congestive heart failure 31 HP:0001635
10 dilated cardiomyopathy 31 HP:0001644
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 supraventricular tachycardia 31 HP:0004755
16 ventricular tachycardia 31 HP:0004756
17 ventricular extrasystoles 31 HP:0006682
18 reduced systolic function 31 HP:0006673
19 palpitations 31 HP:0001962
20 atrial flutter 31 HP:0004749
21 premature atrial contractions 31 HP:0006699
22 left bundle branch block 31 HP:0011713
23 atrial standstill 31 HP:0025478

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
atrioventricular block
syncope
atrial fibrillation
right bundle branch block
palpitations
more

Clinical features from OMIM:

601154 611878 613426

UMLS symptoms related to Cardiomyopathy, Dilated, 1e:


syncope

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.61 DES KCNIP2 LMNA MYH7 RBM20 SCN5A
2 muscle MP:0005369 9.17 DES LMNA MYH7 RBM20 SCN5A TTN

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
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, Testes, Bone

Publications for Cardiomyopathy, Dilated, 1e

Articles related to Cardiomyopathy, Dilated, 1e:

(show all 30)
# Title Authors PMID Year
1
SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. 61 56 6
15466643 2004
2
R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy. 56 6
22999724 2012
3
Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q. 56 6
22710484 2012
4
Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy. 56 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. 56 6
19412328 2008
6
Letter regarding article by McNair et al, "SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia". 56 6
15998690 2005
7
Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. 56 6
15671429 2005
8
A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. 56 6
12522116 2003
9
Familial automaticity-conduction disorder with associated cardiomyopathy. 56 6
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
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 6
21810866 2011
13
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. 6
21551322 2011
14
Mutations in the sarcomere gene MYH7 in Ebstein anomaly. 6
21127202 2011
15
SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del. 56
21167004 2010
16
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. 6
19336582 2009
17
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. 6
19138847 2009
18
Mutations in sarcomere protein genes in left ventricular noncompaction. 6
18506004 2008
19
Dilated Cardiomyopathy Overview 6
20301486 2007
20
Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred. 6
16684601 2006
21
SCN5A mutation associated with cardiac conduction defect and atrial arrhythmias. 6
16684018 2006
22
Gene mutations in apical hypertrophic cardiomyopathy. 6
16267253 2005
23
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). 6
14523039 2003
24
Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients. 6
12749056 2003
25
Novel mutations in sarcomeric protein genes in dilated cardiomyopathy. 6
12379228 2002
26
Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. 6
11273725 2001
27
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. 6
11106718 2000
28
Mapping a cardiomyopathy locus to chromosome 3p22-p25. 56
8567977 1996
29
Familial myopathy with probable lysis of myofibrils in type I fibers. 6
4104682 1971
30
[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 126) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN5A NM_001099404.1(SCN5A):c.2548_2549GT[3] (p.Phe851fs)short repeat Pathogenic 201560 rs397514450 3:38627417-38627418 3:38585926-38585927
2 TTN NM_001267550.2(TTN):c.87355del (p.Ala29119fs)deletion Pathogenic 202484 rs794729356 2:179422726-179422726 2:178557999-178557999
3 RBM20 NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu)SNV Pathogenic 268 rs267607003 10:112572068-112572068 10:110812310-110812310
4 SCN5A NM_198056.2(SCN5A):c.3823G>A (p.Asp1275Asn)SNV Pathogenic 9401 rs137854618 3:38607917-38607917 3:38566426-38566426
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.118G>A (p.Glu40Lys)SNV Pathogenic 12459 rs104894501 15:63336229-63336229 15:63044030-63044030
7 MYH7 NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)SNV Pathogenic 14102 rs3218714 14:23898488-23898488 14:23429279-23429279
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.5378T>C (p.Leu1793Pro)SNV Pathogenic 14123 rs121913654 14:23884385-23884385 14:23415176-23415176
12 MYH7 NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)SNV Pathogenic 14125 rs267606908 14:23893321-23893321 14:23424112-23424112
13 MYH7 NM_000257.4(MYH7):c.5296G>A (p.Ala1766Thr)SNV Pathogenic 14128 rs267606909 14:23884467-23884467 14:23415258-23415258
14 TPM1 NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn)SNV Pathogenic 31884 rs199476317 15:63354462-63354462 15:63062263-63062263
15 TPM1 NM_001018005.2(TPM1):c.742A>G (p.Lys248Glu)SNV Pathogenic 31901 rs199476319 15:63354814-63354814 15:63062615-63062615
16 SCN5A NM_198056.2(SCN5A):c.665G>A (p.Arg222Gln)SNV Pathogenic 39444 rs45546039 3:38655272-38655272 3:38613781-38613781
17 MYH7 NM_000257.4(MYH7):c.1988G>A (p.Arg663His)SNV Pathogenic 42875 rs371898076 14:23896042-23896042 14:23426833-23426833
18 MYH7 NM_000257.4(MYH7):c.847T>G (p.Tyr283Asp)SNV Pathogenic 66081 rs397515482 14:23900158-23900158 14:23430949-23430949
19 MYH7 NM_000257.4(MYH7):c.5754C>R (p.Asn1918Lys)SNV Pathogenic 66082 rs138110910 14:23883004-23883004 14:23413795-23413795
20 LMNA NM_170707.4(LMNA):c.568C>T (p.Arg190Trp)SNV Pathogenic 66908 rs59026483 1:156104248-156104248 1:156134457-156134457
21 LMNA NM_170707.4(LMNA):c.904_905CT[2] (p.Ser303fs)short repeat Pathogenic 66955 rs59684335 1:156105071-156105072 1:156135280-156135281
22 MYH7 NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)SNV Pathogenic 132925 rs606231324 14:23897714-23897714 14:23428505-23428505
23 MYH7 NM_000257.4(MYH7):c.5378_5380del (p.Leu1793del)deletion Pathogenic 143218 rs587779396 14:23884383-23884385 14:23415174-23415176
24 DES NM_001927.4(DES):c.493_520delinsGCGT (p.Gln165_Ala174delinsAlaSer)indel Pathogenic 265817 rs1114167332 2:220283677-220283704 2:219418955-219418982
25 DES NM_001927.4(DES):c.1333_1336del (p.Lys444_Thr445insTer)deletion Pathogenic 265807 rs1114167327 2:220290428-220290431 2:219425706-219425709
26 SCN5A NM_001099404.1(SCN5A):c.615T>G (p.Tyr205Ter)SNV Pathogenic 587531 rs765669597 3:38655554-38655554 3:38614063-38614063
27 MYH7 NM_000257.4(MYH7):c.1963C>A (p.Leu655Met)SNV Pathogenic 619177 14:23896067-23896067 14:23426858-23426858
28 SCN5A NM_198056.2(SCN5A):c.1099C>T (p.Arg367Cys)SNV Pathogenic/Likely pathogenic 67633 rs199473097 3:38648201-38648201 3:38606710-38606710
29 MYH7 NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)SNV Pathogenic/Likely pathogenic 42874 rs397516127 14:23896043-23896043 14:23426834-23426834
30 MYH7 NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)SNV Pathogenic/Likely pathogenic 43100 rs397516264 14:23900811-23900811 14:23431602-23431602
31 MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)SNV Pathogenic/Likely pathogenic 42901 rs3218716 14:23894525-23894525 14:23425316-23425316
32 MYH7 NM_000257.4(MYH7):c.732+1G>ASNV Pathogenic/Likely pathogenic 14127 rs730880850 14:23900793-23900793 14:23431584-23431584
33 TPM1 NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys)SNV Pathogenic/Likely pathogenic 31882 rs199476315 15:63353922-63353922 15:63061723-63061723
34 MYH7 NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)SNV Pathogenic/Likely pathogenic 14088 rs3218713 14:23900677-23900677 14:23431468-23431468
35 MYH7 NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)SNV Pathogenic/Likely pathogenic 14092 rs121913628 14:23893268-23893268 14:23424059-23424059
36 TPM1 NM_001018005.2(TPM1):c.160G>A (p.Glu54Lys)SNV Pathogenic/Likely pathogenic 12458 rs104894505 15:63336271-63336271 15:63044072-63044072
37 MYH7 NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)SNV Pathogenic/Likely pathogenic 164312 rs397516171 14:23893250-23893250 14:23424041-23424041
38 TTN NM_001267550.2(TTN):c.51436+1G>ASNV Likely pathogenic 202384 rs761807131 2:179474816-179474816 2:178610089-178610089
39 MYH7 NM_000257.4(MYH7):c.1544T>C (p.Met515Thr)SNV Likely pathogenic 216968 rs863224900 14:23897743-23897743 14:23428534-23428534
40 MYH7 NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)SNV Likely pathogenic 42822 rs397516089 14:23899016-23899016 14:23429807-23429807
41 MYH7 NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)SNV Likely pathogenic 43088 rs397516254 14:23883018-23883018 14:23413809-23413809
42 TPM1 NM_001018005.2(TPM1):c.337C>G (p.Leu113Val)SNV Likely pathogenic 43414 rs397516369 15:63349280-63349280 15:63057081-63057081
43 MYH7 NM_000257.4(MYH7):c.1858_1859del (p.Leu620fs)deletion Likely pathogenic 800742 14:23896823-23896824 14:23427614-23427615
44 MYH7 NM_000257.4(MYH7):c.2642T>G (p.Leu881Arg)SNV Likely pathogenic 807634 14:23894015-23894015 14:23424806-23424806
45 MYH7 NM_000257.4(MYH7):c.1189A>G (p.Lys397Glu)SNV Likely pathogenic 585010 rs1566535410 14:23898506-23898506 14:23429297-23429297
46 RBM20 NM_001134363.3(RBM20):c.1904C>G (p.Ser635Cys)SNV Likely pathogenic 265814 rs1114167331 10:112572059-112572059 10:110812301-110812301
47 PKP2 NM_004572.3(PKP2):c.2035C>T (p.His679Tyr)SNV Likely pathogenic 265822 rs757922359 12:32974400-32974400 12:32821466-32821466
48 MYH7 NM_000257.4(MYH7):c.5390T>C (p.Leu1797Pro)SNV Likely pathogenic 265799 rs1114167322 14:23884373-23884373 14:23415164-23415164
49 MYH7 NM_000257.4(MYH7):c.2114G>A (p.Cys705Tyr)SNV Likely pathogenic 547898 rs1555337916 14:23895221-23895221 14:23426012-23426012
50 DES NM_001927.4(DES):c.407T>C (p.Leu136Pro)SNV Likely pathogenic 265811 rs397516695 2:220283591-220283591 2:219418869-219418869

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

73 (show all 28)
# 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.Arg1634Cys VAR_042833 rs397516232
13 MYH7 p.Val1044Ala VAR_067260
14 MYH7 p.Ala1263Glu VAR_067262 rs758889483
15 MYH7 p.Leu1297Val VAR_067263
16 MYH7 p.Arg243His VAR_073876 rs267606910
17 MYH7 p.Tyr283Asp VAR_073877 rs397515482
18 MYH7 p.Tyr350Asn VAR_073878
19 MYH7 p.Leu390Pro VAR_073879
20 MYH7 p.Glu1573Lys VAR_073884 rs750987717
21 MYH7 p.Ser1776Thr VAR_073885
22 MYH7 p.Asn1918Lys VAR_073888
23 MYH7 p.Phe252Leu VAR_080399
24 SCN5A p.Asp1275Asn VAR_026373 rs137854618
25 TPM1 p.Glu40Lys VAR_043986 rs104894501
26 TPM1 p.Glu54Lys VAR_043987 rs104894505
27 TPM1 p.Glu192Lys VAR_070121 rs199476315
28 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 9.33 XIRP1 TPM1 MYH7
2 sarcomere GO:0030017 9.13 TTN TPM1 MYH7
3 Z disc GO:0030018 8.92 TTN SCN5A MYH7 DES

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

# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.46 TTN TPM1 SCN5A MYH7
2 regulation of heart contraction GO:0008016 9.43 TPM1 KCNIP2 DES
3 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.37 TPM1 MYH7
4 striated muscle contraction GO:0006941 9.32 TTN MYH7
5 muscle filament sliding GO:0030049 9.26 TTN TPM1 MYH7 DES
6 muscle contraction GO:0006936 9.02 TTN TPM1 MYH7 KCNIP2 DES

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 8.92 XIRP1 TTN TPM1 MYH7

Sources for Cardiomyopathy, Dilated, 1e

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
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68 SNOMED-CT via HPO
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71 UMLS
72 UMLS via Orphanet
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