Phenotypes associated with the disease malignant hyperthermia, susceptibility to, 3 (OMIM:154276):
- Hypertonia (HP:0001276): A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. Evidence: PCS. (OMIM:154276)
- Malignant hyperthermia (HP:0002047): 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. (OMIM:154276)
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: PCS. (OMIM:154276)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: IEA. (OMIM:154276)
- Hyperkalemia (HP:0002153): The concentration of potassium(1+) in the blood circulation is above the upper limit of normal. Evidence: PCS. (OMIM:154276)
- Anesthetic-induced rhabdomylosis (HP:0011439): Rhabdomyolysis induced by anesthesia. Evidence: PCS. (OMIM:154276)
- Exercise-induced rhabdomyolysis (HP:0009045): Rhabdomyolysis induced by exercise. Evidence: PCS. (OMIM:154276)
- Alcohol-induced rhabdomyolysis (HP:0011440): Rhabdomyolysis induced by intake of alcohol. Evidence: PCS. (OMIM:154276)
- Hyperphosphatemia (HP:0002905): The concentration of phosphate ion in the blood circulation is above the upper limit of normal. Evidence: PCS. (OMIM:154276)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. (OMIM:154276)
- Viral infection-induced rhabdomyolysis (HP:0003558): Rhabdomyolysis induced by a viral infection. Evidence: PCS. (OMIM:154276)
- Autosomal dominant inheritance (HP:0000006): 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: TAS. (OMIM:154276)
- Lactic acidosis (HP:0003128): An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. Evidence: TAS. (OMIM:154276)