Terminology Service for NFDI4Health
JSON

Cryopyrin-Associated Periodic Syndrome

Go to external page http://purl.obolibrary.org/obo/NCIT_C84657

A group of autoinflammatory syndromes caused by mutations in the NLRP3 gene. Signs and symptoms include rash, fever, headache, joint pain, conjunctivitis, and weakness. The symptoms may exacerbate with exposure to cold weather. [ ]

Term info

Label

Cryopyrin-Associated Periodic Syndrome

Synonyms
  • CAPS
  • Cryopyrin-Associated Periodic Syndrome
  • Cryopyrinopathy
Subsets

NCIT_C90259, NCIT_C118468

ALT DEFINITION

A family of autoinflammatory diseases caused by gain of function mutations in NLRP3, which encodes cryopyrin, resulting in inflammasome activation and enhanced IL-1 beta and IL-18 production. This results in clinical signs and symptoms of inflammation in the form of rash, fever, joint, neurologic and eye symptoms, with increased acute phase reactants.

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C3101, http://purl.obolibrary.org/obo/NCIT_C2889

NICHD Hierarchy Term

Cryopyrin-Associated Periodic Syndrome

Preferred Name

Cryopyrin-Associated Periodic Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C2316212

code

C84657