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 45
Cinca Syndrome 45 22 23
Nomid 45 22 23
Chronic Infantile Neurological, Cutaneous and Articular Syndrome 23 24
Infantile Onset Multisystem Inflammatory Disease 45 23
Neonatal Onset Multisystem Inflammatory Disease 45 23
Cinca 45 23
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 65
Chronic Infantile Neurological Cutaneous and Articular Syndrome 22
 
Chronic Infantile Neurologic, Cutaneous, and Articular Syndrome 23
Chronic Neurologic, Cutaneous, and Articular Syndrome 23
Multisystem Inflammatory Disease, Neonatal-Onset 45
Neonatal-Onset Multisystem Inflammatory Disease 22
Prieur Griscelli Syndrome 45
Prieur-Griscelli Syndrome 23
Iomid Syndrome 23
Iomid 45

Classifications:



External Ids:

UMLS65 C0409818

Summaries for Chronic Infantile Neurological Cutaneous Articular Syndrome

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NIH Rare Diseases:45 Chronic infantile neurologic cutaneous and articular (cinca) syndrome, also known as 'neonatal onset multisystem inflammatory disease,' or nomid, is a congenital inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms (skin rash), chronic meningitis, and joint pain with recurrent fever and inflammation. cinca is the most severe form of the cryopyrin associated periodic syndromes (caps) caused by mutations in the cias1/nlrp3 gene. about 50% of affected individuals have mutations in this gene. this condition is inherited in an autosomal dominant fashion. last updated: 7/15/2009

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 nodular rash, nodular rash and mucocutaneous rash. An important gene associated with Chronic Infantile Neurological Cutaneous Articular Syndrome is NLRP3 (NLR Family, Pyrin Domain Containing 3). Affiliated tissues include skin, pancreas and lung.

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 syndrome11.4
2familial cold-induced inflammatory syndrome 110.2

Symptoms for Chronic Infantile Neurological Cutaneous Articular Syndrome

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UMLS symptoms related to Chronic Infantile Neurological Cutaneous Articular Syndrome:


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

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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1VaccinesPhase 36085
2Immunologic FactorsPhase 318483
3ImmunoglobulinsPhase 34477
4Antibodies, MonoclonalPhase 32413
5AntibodiesPhase 34477

Interventional clinical trials:

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
8Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) PatientsCompletedNCT01213641
9Studies 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
10Anakinra to Treat Patients With Neonatal Onset Multisystem Inflammatory DiseaseTerminatedNCT00069329

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 Syndrome22 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:

33
Skin, Pancreas, Lung, Neutrophil

Animal Models for Chronic Infantile Neurological Cutaneous Articular Syndrome or affiliated genes

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Publications for Chronic Infantile Neurological Cutaneous Articular Syndrome

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Articles related to Chronic Infantile Neurological Cutaneous Articular Syndrome:

idTitleAuthorsYear
1
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
2
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
3
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
4
Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome. (16255047)
2005
5
Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1. (15334500)
2004
6
Enhanced interleukin-1beta and interleukin-18 release in a patient with chronic infantile neurologic, cutaneous, articular syndrome. (15476236)
2004
7
Chronic infantile neurological cutaneous articular syndrome: CD10 over-expression in neutrophils is a possible key to the pathogenesis of the disease. (12928894)
2003
8
Chronic infantile neurological cutaneous articular syndrome in an Arab patient. (11737717)
2001
9
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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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet