Phenotypes associated with the disease Primary erythromelalgia (ORPHA:90026):
- Peripheral neuropathy (HP:0009830): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90026)
- Erythema (HP:0010783): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90026)
- Erythromelalgia (HP:0032147): Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90026)
- Pruritus (HP:0000989): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90026)
- Abnormality of thrombocytes (HP:0001872): An abnormality of platelets. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90026)
- Leukemia (HP:0001909): A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90026)
- Hypothermia (HP:0002045): Reduced body temperature due to failed thermoregulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90026)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90026)
- Vasculitis (HP:0002633): Inflammation of blood vessel. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90026)
- Distal sensory impairment (HP:0002936): An abnormal reduction in sensation in the distal portions of the extremities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90026)
- Pedal edema (HP:0010741): An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90026)
- Allodynia (HP:0012533): Pain due to a stimulus that does not normally provoke pain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90026)
- Dysesthesia (HP:0012534): Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90026)
- Decreased/absent ankle reflexes (HP:0200101). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90026)