Disease ID | Source | Name | Description |
243000 | OMIM | Indifference to pain, congenital, autosomal recessive (CIP) | A disorder characterized by congenital inability to perceive any form of pain, in any part of the body. All other sensory modalities are preserved and the peripheral and central nervous systems are apparently intact. Patients perceive the sensations of touch, warm and cold temperature, proprioception, tickle and pressure, but not painful stimuli. There is no evidence of a motor or sensory neuropathy, either axonal or demyelinating. The disease is caused by variants affecting the gene represented in this entry. |
133020 | OMIM | Primary erythermalgia (PERYTHM) | Autosomal dominant disease characterized by recurrent episodes of severe pain associated with redness and warmth in the feet or hands. The disease is caused by variants affecting the gene represented in this entry. |
167400 | OMIM | Paroxysmal extreme pain disorder (PEPD) | Autosomal dominant paroxysmal disorder of pain and autonomic dysfunction. The distinctive features are paroxysmal episodes of burning pain in the rectal, ocular, and mandibular areas accompanied by autonomic manifestations such as skin flushing. The disease is caused by variants affecting the gene represented in this entry. |