Phenotypes associated with the disease malignant hyperthermia, susceptibility to, 5 (OMIM:601887, an entry in Online Mendelian Inheritance in Man):
- Malignant hyperthermia (HP:0002047, a Human Phenotype Ontology term): Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise. Evidence: PCS. (PMID:9199552)
- Hypercapnia (HP:0012416, a Human Phenotype Ontology term): Abnormally elevated blood carbon dioxide (CO2) level. Evidence: IEA. (OMIM:601887)
- Tachycardia (HP:0001649, a Human Phenotype Ontology term): A rapid heartrate that exceeds the range of the normal resting heartrate for age. Evidence: IEA. (OMIM:601887)
- Fever (HP:0001945, a Human Phenotype Ontology term): Body temperature elevated above the normal range. Evidence: TAS. (OMIM:601887)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:9199552)