Details of Disease

General Information of Disease (ID: DISU6RZC)

• Disease Name: CINCA syndrome
• Synonyms: CINCA; Cryopyrin-associated periodic syndrome 3; Prieur Griscelli syndrome; multisystem inflammatory disease, neonatal-onset; IOMID; neonatal onset multisystem inflammatory disease; infantile onset multisystem inflammatory disease; neonatal-onset multisystem inflammatory disease; IOMID syndrome; chronic infantile neurological cutaneous articular syndrome; NOMID; Prieur-Griscelli syndrome; chronic infantile neurological cutaneous and articular syndrome; cryopyrin-associated periodic syndrome 3; CINCA syndrome; chronic neurologic cutaneous and articular syndrome; infantile-onset multisystem inflammatory disease; NOMID syndrome; Neonatal-Onset Multisystem Inflammatory Disease; CINCA/NOMID
• Definition: Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterized by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.
• Disease Hierarchy:
  DISPPN0O: Musculoskeletal disorder
  DISPXXOZ: Cryopyrin-associated periodic syndrome
  DISU6RZC: CINCA syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0011776
  MESH ID: D056587
  UMLS CUI: C0409818
  OMIM ID: 607115
  MedGen ID: 98370
  Orphanet ID: 1451
  SNOMED CT ID: 239826001

Drug-Interaction Atlas (DIA) of This Disease

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

Drug Name	Drug ID	Highest Status	Drug Type	REF
Anakinra	DMU8KOD	Approved	NA	[1]

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	[2]
NLRP3	TT4EN8X	Definitive	Autosomal dominant	[3]
NLRP3	TT4EN8X	Definitive	Genetic Variation	[4]

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MEFV	OTRJ6S6K	Limited	Genetic Variation	[5]
GSDMD	OTH39BKI	Strong	Biomarker	[6]
NLRC4	OTAIA3NA	Strong	Genetic Variation	[7]
RPE	OT0XT3JU	Strong	Genetic Variation	[8]
SAMHD1	OTBCIBC7	Strong	Genetic Variation	[9]
NLRP3	OTZM6MHU	Definitive	Autosomal dominant	[3]

References

• [1] Clinical and genetic characterization of Italian patients affected by CINCA syndrome. Rheumatology (Oxford). 2007 Mar;46(3):473-8.
• [2] 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.
• [3] De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum. 2002 Dec;46(12):3340-8. doi: 10.1002/art.10688.
• [4] Detection of a novel mutation in NLRP3/CIAS1 gene in an Indian child with Neonatal-Onset Multisystem Inflammatory Disease (NOMID).Clin Rheumatol. 2019 Feb;38(2):403-406. doi: 10.1007/s10067-018-4225-9. Epub 2018 Jul 31.
• [5] Fire and ICE: the role of pyrin domain-containing proteins in inflammation and apoptosis.Clin Exp Rheumatol. 2002 Jul-Aug;20(4 Suppl 26):S45-53.
• [6] Gasdermin D mediates the pathogenesis of neonatal-onset multisystem inflammatory disease in mice.PLoS Biol. 2018 Nov 2;16(11):e3000047. doi: 10.1371/journal.pbio.3000047. eCollection 2018 Nov.
• [7] Identification of a High-Frequency Somatic NLRC4 Mutation as a Cause of Autoinflammation by Pluripotent Cell-Based Phenotype Dissection.Arthritis Rheumatol. 2017 Feb;69(2):447-459. doi: 10.1002/art.39960.
• [8] Issues with the Specificity of Immunological Reagents for NLRP3: Implications for Age-related Macular Degeneration.Sci Rep. 2018 Jan 11;8(1):461. doi: 10.1038/s41598-017-17634-1.
• [9] Familial Aicardi-Goutires syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures.Am J Med Genet A. 2010 Apr;152A(4):938-42. doi: 10.1002/ajmg.a.33359.