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

About this section

Aliases & Descriptions for Chronic Infantile Neurological Cutaneous Articular Syndrome:

Name: Chronic Infantile Neurological Cutaneous Articular Syndrome 47 34
Cinca Syndrome 47 24 25
Nomid 47 24 25
Chronic Infantile Neurological, Cutaneous and Articular Syndrome 25 26
Infantile Onset Multisystem Inflammatory Disease 47 25
Neonatal Onset Multisystem Inflammatory Disease 47 25
Cinca 47 25
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 67
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 47
Neonatal-Onset Multisystem Inflammatory Disease 24
Prieur Griscelli Syndrome 47
Prieur-Griscelli Syndrome 25
Iomid Syndrome 25
Iomid 47

Classifications:



Summaries for Chronic Infantile Neurological Cutaneous Articular Syndrome

About this section
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

About this section

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 for Chronic Infantile Neurological Cutaneous Articular Syndrome

About this section

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

About this section

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

About this section

Genetic tests related to Chronic Infantile Neurological Cutaneous Articular Syndrome:

id Genetic test Affiliating Genes
1 Chronic Infantile Neurological, Cutaneous and Articular Syndrome26
2 Chronic Infantile Neurological Cutaneous and Articular Syndrome24 NLRP3

Anatomical Context for Chronic Infantile Neurological Cutaneous Articular Syndrome

About this section

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

35
Neutrophil

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

About this section

Publications for Chronic Infantile Neurological Cutaneous Articular Syndrome

About this section

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

About this section

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

About this section
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

About this section

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

About this section

Sources for Chronic Infantile Neurological Cutaneous Articular Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet