Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
malignant hyperthermia
Summary
- Synonym
-
- anesthesia related hyperthermia
- malignant hyperpyrexia due to anesthesia
- Definition
- A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine).
- Super Class
- autosomal dominant disease muscle tissue disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 781 | CACNA2D1 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | |
| 2639 | GCDH | glutaryl-CoA dehydrogenase | |
| 2821 | GPI | glucose-6-phosphate isomerase | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 64419 | MTMR14 | myotubularin related protein 14 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P06744 | Glucose-6-phosphate isomerase | |
| P54289 | Voltage-dependent calcium channel subunit alpha-2/delta-1 | |
| P98160 | Basement membrane-specific heparan sulfate proteoglycan core protein | |
| Q8NCE2 | Myotubularin-related protein 14 |
