Details of Disease

General Information of Disease (ID: DISPJ2EG)

• Disease Name: Familial cold autoinflammatory syndrome 1
• Synonyms: cold urticaria, familial; cold hypersensitivity; Fcas; FCAS1; cold-induced autoinflammatory syndrome, familial; Cryopyrin-associated periodic syndrome 1; NLRP3 familial cold autoinflammatory syndrome; familial cold autoinflammatory syndrome caused by mutation in NLRP3; familial cold inflammatory syndrome 1; familial cold autoinflammatory syndrome 1; familial cold autoinflammatory syndrome type 1
• Definition: Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene.
• Disease Hierarchy:
  DISAPE70: Familial cold autoinflammatory syndrome
  DISPJ2EG: Familial cold autoinflammatory syndrome 1
• Disease Identifiers:
  MONDO ID: MONDO_0007349
  MESH ID: D056587
  UMLS CUI: C4551895
  OMIM ID: 120100
  MedGen ID: 1647324

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MME	TT5TKPM	Strong	Biomarker	[1]
NLRP3	TT4EN8X	Strong	Autosomal dominant	[2]
NLRP3	TT4EN8X	Strong	Biomarker	[3]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NLRP3	OTZM6MHU	Strong	Autosomal dominant	[2]

References

• [1] Chronic infantile neurological cutaneous articular syndrome: CD10 over-expression in neutrophils is a possible key to the pathogenesis of the disease.Eur J Pediatr. 2003 Oct;162(10):669-73. doi: 10.1007/s00431-003-1284-x. Epub 2003 Aug 20.
• [2] Inflammasome-mediated autoinflammatory disorders. Postgrad Med. 2010 Sep;122(5):125-33. doi: 10.3810/pgm.2010.09.2209.
• [3] Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene.Am J Ophthalmol. 2018 Apr;188:41-50. doi: 10.1016/j.ajo.2018.01.017. Epub 2018 Jan 31.