familial cold autoinflammatory syndrome 1
ORPHA: 47045
Overview
familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the NLRP gene on chromosome 1q44
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 autoinflammatory syndrome 1, sourced from HPO and Orphanet clinical annotations.
Sensorineural hearing impairmentConjunctivitisHyperhidrosisPruritusUrticariaArthritisDehydrationFeverPolydipsiaNausea and vomitingAbdominal painHeadacheArthralgiaMyalgiaErythemaFatigueDysesthesia
Classification & Codes
Orphanet Code
ORPHA:47045familial cold autoinflammatory syndrome 1
| 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