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 subunit alpha 1 [KO:K06480]
3673  
ITGA2; integrin subunit alpha 2 [KO:K06481]
3674  
ITGA2B; integrin subunit alpha 2b [KO:K06476]
3675  
ITGA3; integrin subunit alpha 3 [KO:K06482]
3676  
ITGA4; integrin subunit alpha 4 [KO:K06483]
3678  
ITGA5; integrin subunit alpha 5 [KO:K06484]
3655  
ITGA6; integrin subunit alpha 6 [KO:K06485]
3679  
ITGA7; integrin subunit alpha 7 [KO:K06583]
8516  
ITGA8; integrin subunit alpha 8 [KO:K06584]
3680  
ITGA9; integrin subunit alpha 9 [KO:K06585]
8515  
ITGA10; integrin subunit alpha 10 [KO:K06586]
22801  
ITGA11; integrin subunit alpha 11 [KO:K06587]
3685  
ITGAV; integrin subunit alpha V [KO:K06487]
3688  
ITGB1; integrin subunit beta 1 [KO:K05719]
3690  
ITGB3; integrin subunit beta 3 [KO:K06493]
3691  
ITGB4; integrin subunit beta 4 [KO:K06525]
3693  
ITGB5; integrin subunit beta 5 [KO:K06588]
3694  
ITGB6; integrin subunit beta 6 [KO:K06589]
3695  
ITGB7; integrin subunit beta 7 [KO:K06590]
3696  
ITGB8; integrin subunit beta 8 [KO:K06591]
6444  
SGCD; sarcoglycan delta [KO:K12563]
6445  
SGCG; sarcoglycan gamma [KO:K12564]
6442  
SGCA; sarcoglycan alpha [KO:K12565]
6443  
SGCB; sarcoglycan beta [KO:K12566]
1605  
DAG1; dystroglycan 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 T2, cardiac type [KO:K12045]
7134  
TNNC1; troponin C1, slow skeletal and cardiac type [KO:K05865]
7137  
TNNI3; troponin I3, cardiac type [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 [KO:K12749]
4633  
MYL2; myosin light chain 2 [KO:K10351]
2010  
EMD; emerin [KO:K12569]
4000  
LMNA; lamin A/C [KO:K12641]
IGH; putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8 [KO:K06856]
153  
ADRB1; adrenoceptor beta 1 [KO:K04141]
2778  
GNAS; GNAS complex locus [KO:K04632]
107  
ADCY1; adenylate cyclase 1 [KO:K08041] [EC:4.6.1.1]
108  
ADCY2; adenylate cyclase 2 [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 [KO:K08048] [EC:4.6.1.1]
115  
ADCY9; adenylate cyclase 9 [KO:K08049] [EC:4.6.1.1]
5566  
PRKACA; protein kinase cAMP-activated catalytic subunit alpha [KO:K04345] [EC:2.7.11.11]
5567  
PRKACB; protein kinase cAMP-activated catalytic subunit beta [KO:K04345] [EC:2.7.11.11]
5568  
PRKACG; protein kinase cAMP-activated catalytic subunit gamma [KO:K04345] [EC:2.7.11.11]
775  
CACNA1C; calcium voltage-gated channel subunit alpha1 C [KO:K04850]
776  
CACNA1D; calcium voltage-gated channel subunit alpha1 D [KO:K04851]
778  
CACNA1F; calcium voltage-gated channel subunit alpha1 F [KO:K04853]
779  
CACNA1S; calcium voltage-gated channel subunit alpha1 S [KO:K04857]
782  
CACNB1; calcium voltage-gated channel auxiliary subunit beta 1 [KO:K04862]
783  
CACNB2; calcium voltage-gated channel auxiliary subunit beta 2 [KO:K04863]
784  
CACNB3; calcium voltage-gated channel auxiliary subunit beta 3 [KO:K04864]
785  
CACNB4; calcium voltage-gated channel auxiliary subunit beta 4 [KO:K04865]
781  
CACNA2D1; calcium voltage-gated channel auxiliary subunit alpha2delta 1 [KO:K04858]
9254  
CACNA2D2; calcium voltage-gated channel auxiliary subunit alpha2delta 2 [KO:K04859]
55799  
CACNA2D3; calcium voltage-gated channel auxiliary subunit alpha2delta 3 [KO:K04860]
93589  
CACNA2D4; calcium voltage-gated channel auxiliary subunit alpha2delta 4 [KO:K04861]
786  
CACNG1; calcium voltage-gated channel auxiliary subunit gamma 1 [KO:K04866]
10369  
CACNG2; calcium voltage-gated channel auxiliary subunit gamma 2 [KO:K04867]
10368  
CACNG3; calcium voltage-gated channel auxiliary subunit gamma 3 [KO:K04868]
27092  
CACNG4; calcium voltage-gated channel auxiliary subunit gamma 4 [KO:K04869]
27091  
CACNG5; calcium voltage-gated channel auxiliary subunit gamma 5 [KO:K04870]
59285  
CACNG6; calcium voltage-gated channel auxiliary subunit gamma 6 [KO:K04871]
59284  
CACNG7; calcium voltage-gated channel auxiliary subunit gamma 7 [KO:K04872]
59283  
CACNG8; calcium voltage-gated channel auxiliary subunit gamma 8 [KO:K04873]
6262  
RYR2; ryanodine receptor 2 [KO:K04962]
5350  
PLN; phospholamban [KO:K05852]
3479  
IGF1; insulin like growth factor 1 [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 subunit alpha 2 [KO:K05637]
4624  
MYH6; myosin heavy chain 6 [KO:K17751]
4625  
MYH7; myosin, heavy chain 7, cardiac muscle, beta [KO:K17751]
488  
ATP2A2; ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 [KO:K05853] [EC:3.6.3.8]
6546  
SLC8A1; solute carrier family 8 member A1 [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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