Details of Disease

General Information of Disease (ID: DISPXXOZ)

• Disease Name: Cryopyrin-associated periodic syndrome
• Synonyms: caps; Cryopyrinopathy
• Disease Class: 4A60: Monogenic autoinflammatory syndrome
• Definition: Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS).
• Disease Hierarchy:
  DISAEGPH: Immune system disorder
  DISS9RWQ: Hereditary periodic fever syndrome
  DISPXXOZ: Cryopyrin-associated periodic syndrome
• ICD Code: ICD-11: ICD-11: 4A60.1
• Disease Identifiers:
  MONDO ID: MONDO_0016168
  MESH ID: D056587
  UMLS CUI: C2316212
  MedGen ID: 412215
  Orphanet ID: 208650
  SNOMED CT ID: 430079001

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Zunsemetinib	DMNFNK7	Phase 2	Small molecule	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CASP1	TTCQIBE	Strong	Altered Expression	[2]
CDA	TTQ12RK	Strong	Biomarker	[3]
IRAK4	TTILUKB	Strong	Biomarker	[4]
KLK3	TTS78AZ	Strong	Genetic Variation	[5]
MME	TT5TKPM	Strong	Biomarker	[6]
MVK	TT5DFHW	Strong	Genetic Variation	[7]
NLRP3	TT4EN8X	Definitive	Autosomal dominant	[8]

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MEFV	OTRJ6S6K	moderate	Genetic Variation	[9]
ATN1	OTNZFLKY	Strong	Genetic Variation	[9]
CAPS	OTC9GZ2M	Strong	Biomarker	[10]
CARD8	OTXXZYWU	Strong	Biomarker	[11]
PCLO	OTXJZZ98	Strong	Biomarker	[12]
PSTPIP1	OT4PGEAB	Strong	Biomarker	[13]
SH2B2	OTEDHHDH	Strong	Genetic Variation	[5]
NLRP3	OTZM6MHU	Definitive	Autosomal dominant	[8]

References

• [1] ClinicalTrials.gov (NCT04524858) A Phase 2a, Open-Label, Single-Arm Study to Investigate the Safety and Efficacy of ATI-450 for the Maintenance of Remission in Patients With Cryopyrin-Associated Periodic Syndrome (CAPS) Previously Managed With Anti-IL-1 Therapy. U.S.National Institutes of Health.
• [2] A functional inflammasome activation assay differentiates patients with pathogenic NLRP3 mutations and symptomatic patients with low penetrance variants.Clin Immunol. 2015 Mar;157(1):56-64. doi: 10.1016/j.clim.2015.01.003. Epub 2015 Jan 14.
• [3] Selective inhibition of the p38 MAPK-MK2 axis inhibits inflammatory cues including inflammasome priming signals.J Exp Med. 2018 May 7;215(5):1315-1325. doi: 10.1084/jem.20172063. Epub 2018 Mar 16.
• [4] Monogenic IL-1 mediated autoinflammatory and immunodeficiency syndromes: finding the right balance in response to danger signals.Clin Immunol. 2010 May;135(2):210-22. doi: 10.1016/j.clim.2010.02.013. Epub 2010 Mar 30.
• [5] Catastrophic antiphospholipid syndrome: an update.Panminerva Med. 2017 Sep;59(3):254-268. doi: 10.23736/S0031-0808.17.03324-9. Epub 2017 May 8.
• [6] 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.
• [7] Analysis of NLRP3, MVK and TNFRSF1A variants in adult Greek patients with autoinflammatory symptoms.Clin Exp Rheumatol. 2018 Nov-Dec;36(6 Suppl 115):86-89. Epub 2018 Nov 9.
• [8] New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum Genet. 2002 Jun;70(6):1498-506. doi: 10.1086/340786. Epub 2002 Apr 25.
• [9] A novel knock-in mouse model of cryopyrin-associated periodic syndromes with development of amyloidosis: Therapeutic efficacy of proton pump inhibitors.J Allergy Clin Immunol. 2020 Jan;145(1):368-378.e13. doi: 10.1016/j.jaci.2019.05.034. Epub 2019 Jun 10.
• [10] Guidelines for the management and treatment of periodic fever syndromes: Cryopyrin-associated periodic syndromes (cryopyrinopathies - CAPS).Rev Bras Reumatol Engl Ed. 2016 Jan-Feb;56(1):44-51. doi: 10.1016/j.rbre.2015.08.020. Epub 2015 Oct 20.
• [11] CARD8 is a negative regulator for NLRP3 inflammasome, but mutant NLRP3 in cryopyrin-associated periodic syndromes escapes the restriction.Arthritis Res Ther. 2014 Feb 12;16(1):R52. doi: 10.1186/ar4483.
• [12] Canakinumab for the treatment of cryopyrin-associated periodic syndromes.Drugs Today (Barc). 2009 Oct;45(10):731-5.
• [13] Autoinflammatory gene mutations in Behet's disease.Ann Rheum Dis. 2007 Jun;66(6):832-4. doi: 10.1136/ard.2006.068841. Epub 2007 Jan 9.