MCID: CHR282
MIFTS: 24

Chronic Infantile Neurological Cutaneous Articular Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Chronic Infantile Neurological Cutaneous Articular Syndrome

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Chronic Infantile Neurological Cutaneous Articular Syndrome, Aliases & Descriptions:

Name: Chronic Infantile Neurological Cutaneous Articular Syndrome 41 20
Chronic Infantile Neurological, Cutaneous and Articular Syndrome 21 22
Infantile Onset Multisystem Inflammatory Disease 41 21
Neonatal Onset Multisystem Inflammatory Disease 41 21
Prieur-Griscelli Syndrome 41 21
Cinca Syndrome 41 21
Iomid Syndrome 41 21
Nomid 41 21
Cinca 41 21
 
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 60
Chronic Infantile Neurologic, Cutaneous, and Articular Syndrome 21
Chronic Neurologic, Cutaneous, and Articular Syndrome 21
Infantile-Onset Multisystem Inflammatory Disease 41
Multisystem Inflammatory Disease, Neonatal-Onset 41
Neonatal-Onset Multisystem Inflammatory Disease 41
Prieur Griscelli Syndrome 41
Nomid Syndrome 41
Iomid 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Summaries for Chronic Infantile Neurological Cutaneous Articular Syndrome

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NIH Rare Diseases:41 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 chronic infantile neurological, cutaneous and articular syndrome, is related to muckle-wells syndrome and wells syndrome. An important gene associated with Chronic Infantile Neurological Cutaneous Articular Syndrome is NLRP3 (NLR family, pyrin domain containing 3). Affiliated tissues include skin and neutrophil.

Genetics Home Reference:21 Neonatal onset multisystem inflammatory disease (NOMID) is a disorder that causes persistent inflammation and tissue damage primarily affecting the nervous system, skin, and joints. Recurrent episodes of mild fever may also occur in this disorder.

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:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1muckle-wells syndrome10.5
2wells syndrome10.5
3cinca syndrome10.4
4pseudopapilledema10.3
5cinca syndrome with nlrp3 mutations10.3
6cinca syndrome without nlrp3 mutations10.3
7arthropathy10.2
8cryopyrin-associated periodic syndrome10.2
9familial cold-induced inflammatory syndrome 110.0
10hydrocephalus10.0
11posterior uveitis10.0
12papilledema10.0
13uveitis10.0

Graphical network of diseases related to Chronic Infantile Neurological Cutaneous Articular Syndrome:



Diseases related to chronic infantile neurological cutaneous articular syndrome

Symptoms for Chronic Infantile Neurological Cutaneous Articular Syndrome

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Drugs & Therapeutics for Chronic Infantile Neurological Cutaneous Articular Syndrome

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Drug clinical trials:

Search ClinicalTrials for Chronic Infantile Neurological Cutaneous Articular Syndrome

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 Syndrome20 NLRP3
2 Chronic Infantile Neurological, Cutaneous and Articular Syndrome22

Anatomical Context for Chronic Infantile Neurological Cutaneous Articular Syndrome

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

31
Skin, 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
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
2
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
3
Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome. (16255047)
2005
4
Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1. (15334500)
2004
5
Enhanced interleukin-1beta and interleukin-18 release in a patient with chronic infantile neurologic, cutaneous, articular syndrome. (15476236)
2004
6
Chronic infantile neurological cutaneous articular syndrome: CD10 over-expression in neutrophils is a possible key to the pathogenesis of the disease. (12928894)
2003
7
Chronic infantile neurological cutaneous articular syndrome in an Arab patient. (11737717)
2001
8
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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Compounds 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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Products for genes affiliated with Chronic Infantile Neurological Cutaneous Articular Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Chronic Infantile Neurological Cutaneous Articular Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet