familial cold autoinflammatory syndrome

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Information
Disease name
familial cold autoinflammatory syndrome
Disease ID
DOID:0090061
Description
"A 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." [url:https\://ghr.nlm.nih.gov/condition/familial-cold-autoinflammatory-syndrome, url:https\://rarediseases.org/rare-diseases/familial-cold-autoinflammatory-syndrome/, url:https\://www.nomidalliance.org/fcas.php]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
NLRP3 1 247,416,173 247,448,817 16
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT00887939 Active, not recruiting Pathogenesis of Physical Induced Urticarial Syndromes June 17, 2009
NCT00685373 Completed Phase 3 Efficacy and Safety of ACZ885 in Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease May 2008 April 2010
NCT00991146 Completed Phase 3 Efficacy and Safety Study of Canakinumab Administered for 6 Months (24 Weeks) in Japanese Patients With Cryopyrin-associated Periodic Syndromes Followed by an Extension Phase October 2009 February 2012
NCT01302860 Completed Phase 3 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease November 2010 November 2014
NCT01576367 Completed Phase 3 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease January 16, 2012 October 13, 2015
NCT04868968 Completed Phase 2 Study of Safety, Tolerability and Efficacy of DFV890 in Participants With Familial Cold Auto-inflammatory Syndrome (FCAS) September 20, 2021 May 5, 2023
Disase is a (Disease Ontology)
DOID:612
Cross Reference ID (Disease Ontology)
ICD10CM:L50.2
Cross Reference ID (Disease Ontology)
MIM:PS120100
Cross Reference ID (Disease Ontology)
ORDO:47045
Exact Synonym (Disease Ontology)
FCAS
OMIM Phenotype Series Number (OMIM)
PS120100