- Rhabdomyolysis (HP:0003201): Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream. Evidence: IEA. (OMIM:188580)
- Hyperthyroidism (HP:0000836): An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3). Evidence: IEA. (OMIM:188580)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: IEA. (OMIM:188580)
- Tachycardia (HP:0001649): A rapid heartrate that exceeds the range of the normal resting heartrate for age. Evidence: IEA. (OMIM:188580)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: IEA. (OMIM:188580)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: IEA. (OMIM:188580)
- Palpitations (HP:0001962): A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. Evidence: TAS. (OMIM:188580)
- Sporadic (HP:0003745): Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. Evidence: TAS. (OMIM:188580)
- Periodic paralysis (HP:0003768): Episodes of muscle weakness. Evidence: IEA. (OMIM:188580)
- Goiter (HP:0000853): An enlargement of the thyroid gland. Evidence: TAS. (OMIM:188580)
- 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: IEA. (OMIM:188580)
These phenotypes are associated with the disease thyrotoxic periodic paralysis, susceptibility to, 1 (OMIM:188580).