| Disease ID | Source | Name | Description |
| 170400 | OMIM | Periodic paralysis hypokalemic 1 (HOKPP1) | An autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels. The disease is caused by variants affecting the gene represented in this entry. |
| 188580 | OMIM | Thyrotoxic periodic paralysis 1 (TTPP1) | A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease. Disease susceptibility is associated with variants affecting the gene represented in this entry. |
| 601887 | OMIM | Malignant hyperthermia 5 (MHS5) | Autosomal dominant disorder that is potentially lethal in susceptible individuals on exposure to commonly used inhalational anesthetics and depolarizing muscle relaxants. Disease susceptibility is associated with variants affecting the gene represented in this entry. |