MCID: CHR282
MIFTS: 26

Chronic Infantile Neurological Cutaneous Articular Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Chronic Infantile Neurological Cutaneous Articular Syndrome

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Aliases & Descriptions for Chronic Infantile Neurological Cutaneous Articular Syndrome:

Name: Chronic Infantile Neurological Cutaneous Articular Syndrome 48 35
Cinca Syndrome 48 24 25
Nomid 48 24 25
Chronic Infantile Neurological, Cutaneous and Articular Syndrome 25 27
Infantile Onset Multisystem Inflammatory Disease 48 25
Neonatal Onset Multisystem Inflammatory Disease 48 25
Cinca 48 25
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 68
Chronic Infantile Neurological Cutaneous and Articular Syndrome 24
 
Chronic Infantile Neurologic, Cutaneous, and Articular Syndrome 25
Chronic Neurologic, Cutaneous, and Articular Syndrome 25
Multisystem Inflammatory Disease, Neonatal-Onset 48
Neonatal-Onset Multisystem Inflammatory Disease 24
Prieur Griscelli Syndrome 48
Prieur-Griscelli Syndrome 25
Iomid Syndrome 25
Iomid 48

Classifications:



Summaries for Chronic Infantile Neurological Cutaneous Articular Syndrome

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NIH Rare Diseases:48 Chronic infantile neurologic cutaneous articular (CINCA) syndrome is an inflammatory disorder present from birth (congenital) characterized by tissue damage of the nervous system, skin, and joints. Individuals with CINCA syndrome have a skin rash that is present from birth and persists throughout life. Other symptoms may include: headaches, seizures, and vomiting resulting from chronic meningitis (inflammation of the tissue that covers and protects the brain and spinal cord); intellectual disability; episodes of mild fever; and hearing and vision problems. CINCA syndrome is the most severe form of the cryopyrin associated periodic syndromes (CAPS) caused by mutations in the NLRP3 (CIAS1) gene. About 50% of affected individuals with CINCA syndrome are found to have mutations in this gene. This condition is inherited in an autosomal dominant manner. Treatment may include the use of medications to suppress the process of inflammation, such as anti-inflammatories, corticosteroids, and interleukin-1 beta receptors. Last updated: 10/25/2016

MalaCards based summary: Chronic Infantile Neurological Cutaneous Articular Syndrome, also known as cinca syndrome, is related to cinca syndrome and familial cold-induced inflammatory syndrome 1, and has symptoms including exanthema, exanthema and macular rash. An important gene associated with Chronic Infantile Neurological Cutaneous Articular Syndrome is NLRP3 (NLR Family Pyrin Domain Containing 3). Affiliated tissues include neutrophil.

Related Diseases for Chronic Infantile Neurological Cutaneous Articular Syndrome

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Diseases related to Chronic Infantile Neurological Cutaneous Articular Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cinca syndrome11.2
2familial cold-induced inflammatory syndrome 111.1
3ocular hypertension9.9

Symptoms & Phenotypes for Chronic Infantile Neurological Cutaneous Articular Syndrome

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UMLS symptoms related to Chronic Infantile Neurological Cutaneous Articular Syndrome:


exanthema, macular rash, erythema scarlatiniforme, mucocutaneous rash, nodular rash

Drugs & Therapeutics for Chronic Infantile Neurological Cutaneous Articular Syndrome

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Drugs for Chronic Infantile Neurological Cutaneous Articular Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1VaccinesPhase 36428
2AntibodiesPhase 36045
3ImmunoglobulinsPhase 36045
4Antibodies, MonoclonalPhase 33795
5Interleukin 1 Receptor Antagonist ProteinPhase 1, Phase 296
6Antirheumatic AgentsPhase 1, Phase 210627

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Efficacy 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 DiseaseCompletedNCT00685373Phase 3
2Efficacy and Safety Study of Canakinumab Administered for 6 Months (24 Weeks) in Japanese Patients With Cryopyrin-associated Periodic Syndromes Followed by an Extension PhaseCompletedNCT00991146Phase 3
3Efficacy, 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 DiseaseCompletedNCT01576367Phase 3
4Efficacy, 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 DiseaseCompletedNCT01302860Phase 3
5The Safety and Efficacy of Canakinumab in Patients Aged 4 Years or Older Diagnosed With Cryopyrin-associated Periodic Syndromes (CAPS) in CanadaCompletedNCT01105507Phase 3
6Canakinumab to Treat Neonatal-Onset Multisystem Inflammatory DiseaseTerminatedNCT00770601Phase 3
7Interleukin-1 Trap to Treat Autoinflammatory DiseasesCompletedNCT00094900Phase 2
8Anakinra to Treat Patients With Neonatal Onset Multisystem Inflammatory DiseaseTerminatedNCT00069329Phase 1, Phase 2
9HL2351 CAPS Phase II StudyTerminatedNCT02853084Phase 2
10Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) PatientsCompletedNCT01213641
11Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID / CAPS, DIRA, CANDLE, SAVI, CRMO, Still's Disease, Behcet's Disease, and Other Undifferentiated Autoinflammatory Diseases)RecruitingNCT00059748

Search NIH Clinical Center for Chronic Infantile Neurological Cutaneous Articular Syndrome

Genetic Tests for Chronic Infantile Neurological Cutaneous Articular Syndrome

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Genetic tests related to Chronic Infantile Neurological Cutaneous Articular Syndrome:

id Genetic test Affiliating Genes
1 Chronic Infantile Neurological, Cutaneous and Articular Syndrome27
2 Chronic Infantile Neurological Cutaneous and Articular Syndrome24 NLRP3

Anatomical Context for Chronic Infantile Neurological Cutaneous Articular Syndrome

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MalaCards organs/tissues related to Chronic Infantile Neurological Cutaneous Articular Syndrome:

36
Neutrophil

Publications for Chronic Infantile Neurological Cutaneous Articular Syndrome

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Articles related to Chronic Infantile Neurological Cutaneous Articular Syndrome:

idTitleAuthorsYear
1
A Rare Case of Acute Ocular Hypertensive Episode in a Patient with Chronic Infantile Neurological Cutaneous Articular Syndrome. (27247525)
2016
2
Delayed reactivation of chronic infantile neurologic, cutaneous, articular syndrome (CINCA) in a patient with somatic mosaicism of CIAS1/NLRP3 gene after withdrawal of anti-IL-1 beta therapy. (26316056)
2015
3
Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome. (20039428)
2010
4
A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases. (20131270)
2010
5
Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome. (16255047)
2005
6
Enhanced interleukin-1beta and interleukin-18 release in a patient with chronic infantile neurologic, cutaneous, articular syndrome. (15476236)
2004
7
Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1. (15334500)
2004
8
Chronic infantile neurological cutaneous articular syndrome: CD10 over-expression in neutrophils is a possible key to the pathogenesis of the disease. (12928894)
2003
9
Chronic infantile neurological cutaneous articular syndrome in an Arab patient. (11737717)
2001
10
Chronic infantile neurological cutaneous articular syndrome in a patient from Japan. (9266194)
1997

Variations for Chronic Infantile Neurological Cutaneous Articular Syndrome

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Clinvar genetic disease variations for Chronic Infantile Neurological Cutaneous Articular Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NLRP3NM_001243133.1(NLRP3): c.1718T> C (p.Phe573Ser)SNVPathogenicrs121908152GRCh37Chr 1, 247588469: 247588469
2NLRP3NM_001243133.1(NLRP3): c.907G> A (p.Asp303Asn)SNVPathogenicrs121908153GRCh37Chr 1, 247587658: 247587658
3NLRP3NM_001243133.1(NLRP3): c.926T> C (p.Phe309Ser)SNVPathogenicrs121908154GRCh37Chr 1, 247587677: 247587677

Expression for genes affiliated with Chronic Infantile Neurological Cutaneous Articular Syndrome

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Search GEO for disease gene expression data for Chronic Infantile Neurological Cutaneous Articular Syndrome.

Pathways for genes affiliated with Chronic Infantile Neurological Cutaneous Articular Syndrome

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GO Terms for genes affiliated with Chronic Infantile Neurological Cutaneous Articular Syndrome

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Sources for Chronic Infantile Neurological Cutaneous Articular Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet