Dilated Cardiomyopathy Pathway

Preferred Label : Dilated Cardiomyopathy Pathway;

NCIt synonyms : DCM Pathway;

NCIt related terms : Dilated cardiomyopathy;

Alternative definition : KEGG: 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 chronic viral myocarditis and/or on autoimmune abnormalities. Viral myocarditis may progress to an autoimmune phase and then to progressive cardiac dilatation. 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.;

KEGG ID : hsa05414;

Details

Origin ID

C91470;

UMLS CUI

C2984282;

Automatic exact mappings (from CISMeF team)
- Congestive cardiomyopathy (disorder) [SNOMED CT concept]
- Dilated cardiomyopathy [ICD-10 Sub-category]
- Dilated cardiomyopathy [HPO term]
- Dilated cardiomyopathy [MedDRA LLT]
- Dilated cardiomyopathy [PASCAL descriptor]
- Dilated cardiomyopathy [ORDO Disease]
- Dilated cardiomyopathy [ICD-11 Subcategory]
- cardiomyopathy [MedlinePlus Topic]
- cardiomyopathy, dilated [MeSH concept]
- cardiomyopathy, dilated [MeSH Descriptor]
- dilated cardiomyopathy [Radlex concept]
- dilated cardiomyopathy [DO Concept]
See also inter- (CISMeF)
- Dilated cardiomyopathy [OMIM phenotypic series]
Semantic type(s)
- Functional Concept [UMLS semantic type]
has_gene_product_element
- Actin, Alpha Cardiac Muscle 1 [NCIt concept]
- Actin, Cytoplasmic 1 [NCIt concept]
- Actin, Cytoplasmic 2 [NCIt concept]
- Adenylate Cyclase Type 9 [NCIt concept]
- Beta-1 Adrenergic Receptor [NCIt concept]
- Beta-2 Adrenergic Receptor [NCIt concept]
- Desmin [NCIt concept]
- Emerin [NCIt concept]
- Insulin-Like Growth Factor I [NCIt concept]
- Integrin Alpha-1 [NCIt concept]
- Integrin Alpha-10 [NCIt concept]
- Integrin Alpha-2 [NCIt concept]
- Integrin Alpha-3 [NCIt concept]
- Integrin Alpha-4 [NCIt concept]
- Integrin Alpha-5 [NCIt concept]
- Integrin Alpha-6 [NCIt concept]
- Integrin Alpha-9 [NCIt concept]
- Integrin Alpha-IIb [NCIt concept]
- Integrin Alpha-V [NCIt concept]
- Integrin Beta-1 [NCIt concept]
- Integrin Beta-3 [NCIt concept]
- Integrin Beta-4 [NCIt concept]
- Integrin Beta-5 [NCIt concept]
- Integrin Beta-6 [NCIt concept]
- Integrin Beta-7 [NCIt concept]
- Integrin Beta-8 [NCIt concept]
- Lamin-A/C [NCIt concept]
- Laminin Subunit Alpha-2 [NCIt concept]
- Myosin-6 [NCIt concept]
- Myosin-Binding Protein C, Cardiac-Type [NCIt concept]
- Sarcoplasmic/Endoplasmic Reticulum Calcium ATPase 2 [NCIt concept]
- Sodium/Calcium Exchanger 1 [NCIt concept]
- Titin [NCIt concept]
- Transforming Growth Factor Beta-1 [NCIt concept]
- Transforming Growth Factor Beta-2 [NCIt concept]
- Transforming Growth Factor Beta-3 [NCIt concept]
- Tropomyosin Alpha-1 Chain [NCIt concept]
- Tropomyosin Alpha-3 Chain [NCIt concept]
- Tropomyosin Alpha-4 Chain [NCIt concept]
- Tropomyosin Beta Chain [NCIt concept]
- Troponin I, Cardiac Muscle [NCIt concept]
- Troponin T, Cardiac Muscle [NCIt concept]
- Tumor Necrosis Factor [NCIt concept]
- Voltage-Dependent L-Type Calcium Channel Subunit Alpha-1C [NCIt concept]
- Voltage-Dependent L-Type Calcium Channel Subunit Alpha-1D [NCIt concept]
- Voltage-Dependent L-Type Calcium Channel Subunit Alpha-1S [NCIt concept]
- cAMP-Dependent Protein Kinase Catalytic Subunit Alpha [NCIt concept]
- cAMP-Dependent Protein Kinase Catalytic Subunit Beta [NCIt concept]
- cAMP-Dependent Protein Kinase Catalytic Subunit Gamma [NCIt concept]
pathway_has_gene_element
- ACTB wt Allele [NCIt concept]
- ACTC1 wt Allele [NCIt concept]
- ACTG1 wt Allele [NCIt concept]
- ADCY9 wt Allele [NCIt concept]
- ADRB1 wt Allele [NCIt concept]
- ADRB2 wt Allele [NCIt concept]
- ATP2A2 wt Allele [NCIt concept]
- CACNA1C wt Allele [NCIt concept]
- CACNA1D wt Allele [NCIt concept]
- CACNA1S wt Allele [NCIt concept]
- DES wt Allele [NCIt concept]
- EMD wt Allele [NCIt concept]
- IGF1 wt Allele [NCIt concept]
- ITGA1 wt Allele [NCIt concept]
- ITGA10 wt Allele [NCIt concept]
- ITGA2 wt Allele [NCIt concept]
- ITGA2B wt Allele [NCIt concept]
- ITGA3 wt Allele [NCIt concept]
- ITGA4 wt Allele [NCIt concept]
- ITGA5 wt Allele [NCIt concept]
- ITGA6 wt Allele [NCIt concept]
- ITGA9 wt Allele [NCIt concept]
- ITGAV wt Allele [NCIt concept]
- ITGB1 wt Allele [NCIt concept]
- ITGB3 wt Allele [NCIt concept]
- ITGB4 wt Allele [NCIt concept]
- ITGB5 wt Allele [NCIt concept]
- ITGB6 wt Allele [NCIt concept]
- ITGB7 wt Allele [NCIt concept]
- ITGB8 wt Allele [NCIt concept]
- LAMA2 wt Allele [NCIt concept]
- LMNA wt Allele [NCIt concept]
- MYBPC3 wt Allele [NCIt concept]
- MYH6 wt Allele [NCIt concept]
- PRKACA wt Allele [NCIt concept]
- PRKACB wt Allele [NCIt concept]
- PRKACG wt Allele [NCIt concept]
- SLC8A1 wt Allele [NCIt concept]
- TGFB1 wt Allele [NCIt concept]
- TGFB2 wt Allele [NCIt concept]
- TGFB3 wt Allele [NCIt concept]
- TNF wt Allele [NCIt concept]
- TNNI3 wt Allele [NCIt concept]
- TNNT2 wt Allele [NCIt concept]
- TPM1 wt Allele [NCIt concept]
- TPM2 wt Allele [NCIt concept]
- TPM3 wt Allele [NCIt concept]
- TPM4 wt Allele [NCIt concept]
- TTN wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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