Hypertrophic Cardiomyopathy Pathway

Preferred Label : Hypertrophic Cardiomyopathy Pathway;

NCIt synonyms : HCM Pathway;

NCIt related terms : Hypertrophic cardiomyopathy (HCM);

Alternative definition : KEGG: Hypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological features of myocyte hypertrophy, myofibrillar disarray, and interstitial fibrosis. HCM is one of the most common inherited cardiac disorders, with a prevalence in young adults of 1 in 500. Hundreds of mutations in 11 genes that encode protein constituents of the sarcomere have been identified in HCM. These mutations increase the Ca2 sensitivity of cardiac myofilaments. Increased myofilament Ca2 sensitivity is expected to increase the ATP utilization by actomyosin at submaximal Ca2 concentrations, which might cause an imbalance in energy supply and demand in the heart under severe stress. The inefficient use of ATP suggests that an inability to maintain normal ATP levels could be the central abnormality. This theory might be supported by the discovery of the role of a mutant PRKAG2 gene in HCM, which in active form acts as a central sensing mechanism protecting cells from depletion of ATP supplies. The increase in the myofilament Ca2 sensitivity well account for the diastolic dysfunction of model animals as well as human patients of HCM. It has been widely proposed that left ventricular hypertrophy is not a primary manifestation but develops as compensatory response to sarcomere dysfunction.;

KEGG ID : hsa05410;

Details

Origin ID

C91484;

UMLS CUI

C2984296;

Automatic exact mappings (from CISMeF team)
- Hypertrophic cardiomyopathy (disorder) [SNOMED CT concept]
- Rare hypertrophic cardiomyopathy [ORDO Disease]
- cardiomyopathy, hypertrophic [MeSH Descriptor]
Semantic type(s)
- Functional Concept [UMLS semantic type]
has_gene_product_element
- 5'-AMP-Activated Protein Kinase Catalytic Subunit Alpha-1 [NCIt concept]
- 5'-AMP-Activated Protein Kinase Catalytic Subunit Alpha-2 [NCIt concept]
- 5'-AMP-Activated Protein Kinase Subunit Gamma-2 [NCIt concept]
- Actin, Alpha Cardiac Muscle 1 [NCIt concept]
- Actin, Cytoplasmic 1 [NCIt concept]
- Actin, Cytoplasmic 2 [NCIt concept]
- Alpha-1-Syntrophin [NCIt concept]
- Alpha-Sarcoglycan [NCIt concept]
- Angiotensin-Converting Enzyme [NCIt concept]
- Beta-Sarcoglycan [NCIt concept]
- Desmin [NCIt concept]
- Emerin [NCIt concept]
- Epsilon-Sarcoglycan [NCIt concept]
- Insulin-Like Growth Factor I [NCIt concept]
- Integrin Alpha-2 [NCIt concept]
- Integrin Alpha-4 [NCIt concept]
- Integrin Alpha-5 [NCIt concept]
- Integrin Alpha-6 [NCIt concept]
- Integrin Alpha-IIb [NCIt concept]
- Integrin Alpha-V [NCIt concept]
- Integrin Beta-1 [NCIt concept]
- Integrin Beta-3 [NCIt concept]
- Integrin Beta-7 [NCIt concept]
- Interleukin-6 [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]
- Ryanodine Receptor 2 [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]
pathway_has_gene_element
- ACTB wt Allele [NCIt concept]
- ACTC1 wt Allele [NCIt concept]
- ACTG1 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]
- IL6 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]
- PRKAA1 wt Allele [NCIt concept]
- PRKAA2 wt Allele [NCIt concept]
- PRKAG2 wt Allele [NCIt concept]
- RYR2 wt Allele [NCIt concept]
- SGCA wt Allele [NCIt concept]
- SGCB wt Allele [NCIt concept]
- SGCE wt Allele [NCIt concept]
- SLC8A1 wt Allele [NCIt concept]
- SNTA1 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) :

You can consult :

recommendations
documents concerning education
documents for patients