familial cold urticaria
ORPHA: 47045
Overview
primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with familial cold urticaria, sourced from HPO and Orphanet clinical annotations.
Sensorineural hearing impairmentConjunctivitisHyperhidrosisPruritusUrticariaArthritisDehydrationFeverPolydipsiaNausea and vomitingAbdominal painHeadacheArthralgiaMyalgiaErythemaFatigueDysesthesia
Classification & Codes
Orphanet Code
ORPHA:47045familial cold urticaria
| Orphanet | ORPHA:47045 |
| Treatments | 0 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO