| Disease ID | Source | Name | Description |
| 615040 | OMIM | Episodic pain syndrome, familial, 1 (FEPS1) | An autosomal dominant neurologic disorder characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress. The period of intense pain is accompanied by breathing difficulties, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall. Affected individuals do not manifest altered pain sensitivity outside the episodes. The disease is caused by variants affecting the gene represented in this entry. |