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MIRAGE
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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P21817 | Ryanodine receptor 1 | |
| Q06432 | Voltage-dependent calcium channel gamma-1 subunit | |
| Q13698 | Voltage-dependent L-type calcium channel subunit alpha-1S |
| UniProt ID | Protein Name | Source |
|---|---|---|
| E9PZQ0 | Ryanodine receptor 1 |
