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:47045
familial cold autoinflammatory syndrome 1
OrphanetORPHA:47045
Treatments0 drug(s)
Symptoms on record17 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
familial cold autoinflammatory syndrome 1 | OrphanDrug