KEGG   PATHWAY: hsa05414Help
Entry
hsa05414                    Pathway                                

Name
Dilated cardiomyopathy - Homo sapiens (human)
Description
Dilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac death from ventricular arrhythmia. Genetically inherited forms of DCM ("familial" DCM) have been identified in 25-35% of patients presenting with this disease, and the inherited gene defects are an important cause of "familial" DCM. The pathophysiology may be separated into two categories: defects in force generation and defects in force transmission. In cases where an underlying pathology cannot be identified, the patient is diagnosed with an "idiopathic" DCM. Current hypotheses regarding causes of "idiopathic" DCM focus on myocarditis induced by enterovirus and subsequent autoimmune myocardium impairments. Antibodies to the beta1-adrenergic receptor (beta1AR), which are detected in a substantial number of patients with "idiopathic" DCM,  may increase the concentration of intracellular cAMP and intracellular Ca2+, a condition often leading to a transient hyper-performance of the heart followed by depressed heart function and heart failure.
Class
Human Diseases; Cardiovascular diseases
BRITE hierarchy
Pathway map
Dilated cardiomyopathy
hsa05414

All organismsOrtholog table
Disease
H00294  
Dilated cardiomyopathy (DCM)
H00728  
Brugada syndrome (BRS)
Organism
Homo sapiens (human) [GN:hsa]
Gene
3672  
ITGA1; integrin, alpha 1 [KO:K06480]
3673  
ITGA2; integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) [KO:K06481]
3674  
ITGA2B; integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) [KO:K06476]
3675  
ITGA3; integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) [KO:K06482]
3676  
ITGA4; integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) [KO:K06483]
3678  
ITGA5; integrin, alpha 5 (fibronectin receptor, alpha polypeptide) [KO:K06484]
3655  
ITGA6; integrin, alpha 6 [KO:K06485]
3679  
ITGA7; integrin, alpha 7 [KO:K06583]
8516  
ITGA8; integrin, alpha 8 [KO:K06584]
3680  
ITGA9; integrin, alpha 9 [KO:K06585]
8515  
ITGA10; integrin, alpha 10 [KO:K06586]
22801  
ITGA11; integrin, alpha 11 [KO:K06587]
3685  
ITGAV; integrin, alpha V [KO:K06487]
3688  
ITGB1; integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) [KO:K05719]
3690  
ITGB3; integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) [KO:K06493]
3691  
ITGB4; integrin, beta 4 [KO:K06525]
3693  
ITGB5; integrin, beta 5 [KO:K06588]
3694  
ITGB6; integrin, beta 6 [KO:K06589]
3695  
ITGB7; integrin, beta 7 [KO:K06590]
3696  
ITGB8; integrin, beta 8 [KO:K06591]
6444  
SGCD; sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) [KO:K12563]
6445  
SGCG; sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) [KO:K12564]
6442  
SGCA; sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) [KO:K12565]
6443  
SGCB; sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) [KO:K12566]
1605  
DAG1; dystroglycan 1 (dystrophin-associated glycoprotein 1) [KO:K06265]
1674  
DES; desmin [KO:K07610]
1756  
DMD; dystrophin [KO:K10366]
60  
ACTB; actin, beta [KO:K05692]
71  
ACTG1; actin, gamma 1 [KO:K05692]
7273  
TTN; titin [KO:K12567] [EC:2.7.11.1]
7139  
TNNT2; troponin T type 2 (cardiac) [KO:K12045]
7134  
TNNC1; troponin C type 1 (slow) [KO:K05865]
7137  
TNNI3; troponin I type 3 (cardiac) [KO:K12044]
70  
ACTC1; actin, alpha, cardiac muscle 1 [KO:K12314]
7168  
TPM1; tropomyosin 1 (alpha) [KO:K10373]
7169  
TPM2; tropomyosin 2 (beta) [KO:K10374]
7170  
TPM3; tropomyosin 3 [KO:K09290]
7171  
TPM4; tropomyosin 4 [KO:K10375]
4607  
MYBPC3; myosin binding protein C, cardiac [KO:K12568]
4634  
MYL3; myosin, light chain 3, alkali [KO:K12749]
4633  
MYL2; myosin, light chain 2, regulatory, cardiac, slow [KO:K10351]
2010  
EMD; emerin [KO:K12569]
4000  
LMNA; lamin A/C [KO:K12641]
153  
ADRB1; adrenoceptor beta 1 [KO:K04141]
2778  
GNAS; GNAS complex locus [KO:K04632]
107  
ADCY1; adenylate cyclase 1 (brain) [KO:K08041] [EC:4.6.1.1]
108  
ADCY2; adenylate cyclase 2 (brain) [KO:K08042] [EC:4.6.1.1]
109  
ADCY3; adenylate cyclase 3 [KO:K08043] [EC:4.6.1.1]
196883  
ADCY4; adenylate cyclase 4 [KO:K08044] [EC:4.6.1.1]
111  
ADCY5; adenylate cyclase 5 [KO:K08045] [EC:4.6.1.1]
112  
ADCY6; adenylate cyclase 6 [KO:K08046] [EC:4.6.1.1]
113  
ADCY7; adenylate cyclase 7 [KO:K08047] [EC:4.6.1.1]
114  
ADCY8; adenylate cyclase 8 (brain) [KO:K08048] [EC:4.6.1.1]
115  
ADCY9; adenylate cyclase 9 [KO:K08049] [EC:4.6.1.1]
5566  
PRKACA; protein kinase, cAMP-dependent, catalytic, alpha [KO:K04345] [EC:2.7.11.11]
5567  
PRKACB; protein kinase, cAMP-dependent, catalytic, beta [KO:K04345] [EC:2.7.11.11]
5568  
PRKACG; protein kinase, cAMP-dependent, catalytic, gamma [KO:K04345] [EC:2.7.11.11]
5613  
PRKX; protein kinase, X-linked [KO:K04345] [EC:2.7.11.11]
775  
CACNA1C; calcium channel, voltage-dependent, L type, alpha 1C subunit [KO:K04850]
776  
CACNA1D; calcium channel, voltage-dependent, L type, alpha 1D subunit [KO:K04851]
778  
CACNA1F; calcium channel, voltage-dependent, L type, alpha 1F subunit [KO:K04853]
779  
CACNA1S; calcium channel, voltage-dependent, L type, alpha 1S subunit [KO:K04857]
782  
CACNB1; calcium channel, voltage-dependent, beta 1 subunit [KO:K04862]
783  
CACNB2; calcium channel, voltage-dependent, beta 2 subunit [KO:K04863]
784  
CACNB3; calcium channel, voltage-dependent, beta 3 subunit [KO:K04864]
785  
CACNB4; calcium channel, voltage-dependent, beta 4 subunit [KO:K04865]
781  
CACNA2D1; calcium channel, voltage-dependent, alpha 2/delta subunit 1 [KO:K04858]
9254  
CACNA2D2; calcium channel, voltage-dependent, alpha 2/delta subunit 2 [KO:K04859]
55799  
CACNA2D3; calcium channel, voltage-dependent, alpha 2/delta subunit 3 [KO:K04860]
93589  
CACNA2D4; calcium channel, voltage-dependent, alpha 2/delta subunit 4 [KO:K04861]
786  
CACNG1; calcium channel, voltage-dependent, gamma subunit 1 [KO:K04866]
10369  
CACNG2; calcium channel, voltage-dependent, gamma subunit 2 [KO:K04867]
10368  
CACNG3; calcium channel, voltage-dependent, gamma subunit 3 [KO:K04868]
27092  
CACNG4; calcium channel, voltage-dependent, gamma subunit 4 [KO:K04869]
27091  
CACNG5; calcium channel, voltage-dependent, gamma subunit 5 [KO:K04870]
59285  
CACNG6; calcium channel, voltage-dependent, gamma subunit 6 [KO:K04871]
59284  
CACNG7; calcium channel, voltage-dependent, gamma subunit 7 [KO:K04872]
59283  
CACNG8; calcium channel, voltage-dependent, gamma subunit 8 [KO:K04873]
6262  
RYR2; ryanodine receptor 2 (cardiac) [KO:K04962]
5350  
PLN; phospholamban [KO:K05852]
3479  
IGF1; insulin-like growth factor 1 (somatomedin C) [KO:K05459]
7040  
TGFB1; transforming growth factor, beta 1 [KO:K13375]
7042  
TGFB2; transforming growth factor, beta 2 [KO:K13376]
7043  
TGFB3; transforming growth factor, beta 3 [KO:K13377]
7124  
TNF; tumor necrosis factor [KO:K03156]
3908  
LAMA2; laminin, alpha 2 [KO:K05637]
4624  
MYH6; myosin, heavy chain 6, cardiac muscle, alpha [KO:K17751]
4625  
MYH7; myosin, heavy chain 7, cardiac muscle, beta [KO:K17751]
488  
ATP2A2; ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 [KO:K05853] [EC:3.6.3.8]
6546  
SLC8A1; solute carrier family 8 (sodium/calcium exchanger), member 1 [KO:K05849]
Compound
C00076  
Calcium cation
C00575  
3',5'-Cyclic AMP
C01330  
Sodium cation
C02135  
Angiotensin II
Reference
  Authors
Fatkin D, Graham RM
  Title
Molecular mechanisms of inherited cardiomyopathies.
  Journal
Physiol Rev 82:945-80 (2002)
Reference
  Authors
Lappe JM, Pelfrey CM, Tang WH
  Title
Recent insights into the role of autoimmunity in idiopathic dilated cardiomyopathy.
  Journal
J Card Fail 14:521-30 (2008)
Reference
  Authors
Zhao P, Sharma AC, Ren J
  Title
Pathogenesis and therapy of autoimmunity-induced dilated cardiomyopathy.
  Journal
Front Biosci 14:1708-15 (2009)
Reference
  Authors
Franz WM, Muller OJ, Katus HA
  Title
Cardiomyopathies: from genetics to the prospect of treatment.
  Journal
Lancet 358:1627-37 (2001)
Reference
  Authors
Towbin JA, Bowles NE
  Title
The failing heart.
  Journal
Nature 415:227-33 (2002)
Reference
  Authors
Luk A, Ahn E, Soor GS, Butany J
  Title
Dilated cardiomyopathy: a review.
  Journal
J Clin Pathol 62:219-25 (2009)
Reference
  Authors
Yoshikawa T, Baba A, Nagatomo Y
  Title
Autoimmune mechanisms underlying dilated cardiomyopathy.
  Journal
Circ J 73:602-7 (2009)
Reference
  Authors
Mason JW
  Title
Myocarditis and dilated cardiomyopathy: an inflammatory link.
  Journal
Cardiovasc Res 60:5-10 (2003)
Reference
  Authors
Jahns R, Boivin V, Hein L, Triebel S, Angermann CE, Ertl G, Lohse MJ
  Title
Direct evidence for a beta 1-adrenergic receptor-directed autoimmune attack as a cause of idiopathic dilated cardiomyopathy.
  Journal
J Clin Invest 113:1419-29 (2004)
Reference
  Authors
Liu PP, Mason JW
  Title
Advances in the understanding of myocarditis.
  Journal
Circulation 104:1076-82 (2001)
Reference
  Authors
Tam PE
  Title
Coxsackievirus myocarditis: interplay between virus and host in the pathogenesis of heart disease.
  Journal
Viral Immunol 19:133-46 (2006)
KO pathway
 

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