Malignant Hyperthermia
Disease ID: disease_node_4965
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| Dbxref | GARD:6964, ICD10CM:T88.3, ICD9CM:995.86, MESH:D008305, MIM:PS145600, NCI:C84869, ORDO:423, SNOMEDCT_US_2023_03_01:111738008, UMLS_CUI:C0024591 |
|---|---|
| Subclassof | DOID_66, DOID_0050736 |
| Data Source | DOID, MESH |
| Synonyms | anesthesia related hyperthermia, malignant hyperpyrexia due to anesthesia |
| Mesh Id | D008305 |
| Mesh Label | Malignant Hyperthermia |
| Mesh Subclassof | D007431, D000084462, D011183 |
| Doid Label | maligt hyperthermia |
| Doid Description | 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 maligt 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). Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_4965 |
| Doid Id | DOID_8545 |
| Label | Malignant Hyperthermia |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Muscle Tissue Disease(ID:disease_node_15790) (Disease)