Details of Disease

General Information of Disease (ID: DISAPE70)

• Disease Name: Familial cold autoinflammatory syndrome
• Synonyms: familial cold urticaria; familial polymorphous cold eruption; FCU; familial cold autoinflammatory syndrome; FCAS
• Definition: Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.
• Disease Hierarchy:
  DISPXXOZ: Cryopyrin-associated periodic syndrome
  DISAPE70: Familial cold autoinflammatory syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0018768
  MESH ID: D056587
  UMLS CUI: C0343068
  MedGen ID: 137986
  Orphanet ID: 47045
  SNOMED CT ID: 238687000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NLRP3	TT4EN8X	Limited	Genetic Variation	[1]
NLRP3	TT4EN8X	Supportive	Autosomal dominant	[2]
MKNK1	TTEZAUX	Strong	Biomarker	[3]
MME	TT5TKPM	Strong	Biomarker	[4]
TRPM8	TTXDKTO	Strong	Biomarker	[5]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NLRC4	OTAIA3NA	Limited	Genetic Variation	[6]
NLRP3	OTZM6MHU	Supportive	Autosomal dominant	[2]
NLRP12	OTGR132Z	Strong	Genetic Variation	[7]
TAC4	OTYWPPM3	Strong	Biomarker	[8]

References

• [1] NLRC4 inflammasomopathies.Curr Opin Allergy Clin Immunol. 2017 Dec;17(6):398-404. doi: 10.1097/ACI.0000000000000396.
• [2] Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet. 2001 Nov;29(3):301-5. doi: 10.1038/ng756.
• [3] The MNK-eIF4E Signaling Axis Contributes to Injury-Induced Nociceptive Plasticity and the Development of Chronic Pain.J Neurosci. 2017 Aug 2;37(31):7481-7499. doi: 10.1523/JNEUROSCI.0220-17.2017. Epub 2017 Jul 3.
• [4] 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.
• [5] Structural insights into TRPM8 inhibition and desensitization.Science. 2019 Sep 27;365(6460):1434-1440. doi: 10.1126/science.aax6672. Epub 2019 Sep 5.
• [6] HSC70 regulates cold-induced caspase-1 hyperactivation by an autoinflammation-causing mutant of cytoplasmic immune receptor NLRC4.Proc Natl Acad Sci U S A. 2019 Oct 22;116(43):21694-21703. doi: 10.1073/pnas.1905261116. Epub 2019 Oct 9.
• [7] Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing.PLoS One. 2016 Jun 17;11(6):e0156981. doi: 10.1371/journal.pone.0156981. eCollection 2016.
• [8] Hemokinin-1 is an important mediator of pain in mouse models of neuropathic and inflammatory mechanisms.Brain Res Bull. 2019 Apr;147:165-173. doi: 10.1016/j.brainresbull.2019.01.015. Epub 2019 Jan 18.