CINCA
MCID: CHR282
MIFTS: 53

Chronic Infantile Neurological Cutaneous Articular Syndrome (CINCA) malady

Eye, Bone, Skin, Blood, Neuronal categories

Summaries for Chronic Infantile Neurological Cutaneous Articular Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Chronic Infantile Neurological Cutaneous Articular Syndrome, also known as cinca syndrome, is related to muckle-wells syndrome and arthropathy, and has symptoms including chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis, optic nerve anomaly/optic atrophy/anomaly of the papilla and hearing loss/hypoacusia/deafness. An important gene associated with Chronic Infantile Neurological Cutaneous Articular Syndrome is NLRP3 (NLR family, pyrin domain containing 3), and among its related pathways are PEDF Induced Signaling and PAK Pathway. The compounds endotoxin and glutamate have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are renal/urinary system and homeostasis/metabolism.

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.

Description from OMIM:47 607115

Aliases & Classifications for Chronic Infantile Neurological Cutaneous Articular Syndrome

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 49Orphanet, 21Genetics Home Reference, 47OMIM, 45Novoseek, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye, Bone, Skin, Blood, Neuronal


Characteristics (Orphanet epidemiological data):

49
cinca syndrome:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

chronic infantile neurological cutaneous articular syndrome 43 20 22 49
cinca syndrome 43 21 47 45 49
infantile onset multisystem inflammatory disease 43 21
prieur-griscelli syndrome 21 49
iomid syndrome 21 49
cinca 43 21
chronic infantile neurological, cutaneous, and articular syndrome 61
chronic infantile neurological, cutaneous and articular syndrome 21
chronic infantile neurologic, cutaneous, and articular syndrome 21
chronic neurologic, cutaneous, and articular syndrome 21
multisystem inflammatory disease, neonatal-onset 43
infantile-onset multisystem inflammatory disease 49
neonatal onset multisystem inflammatory disease 21
neonatal-onset multisystem inflammatory disease 49
nomid syndrome 49
iomid 43
nomid 21


External Ids:

OMIM47 607115
ICD10 via Orphanet26 G03.1, G44.8, L50.8 M08.9, more

Related Diseases for Chronic Infantile Neurological Cutaneous Articular Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Chronic Infantile Neurological Cutaneous Articular Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 108)
idRelated DiseaseScoreTop Affiliating Genes
1muckle-wells syndrome30.6IL1B, NLRP3, CASP1, IL1R1, IL1RAPL2
2arthropathy30.1NLRP3, IL1RAPL2, IL1B
3uveitis29.9IL1R1
4familial mediterranean fever29.9NLRP3, CASP1, IL1B
5familial cold autoinflammatory syndrome29.9IL1B, IL1R1, CASP1, NLRP3
6n syndrome10.8
7wells syndrome10.5
8neurologic diseases10.4
9pseudopapilledema10.3
10cinca syndrome with cias1 mutations10.1
11cinca syndrome without cias1 mutations10.1
12ischemia10.0CASP1
13liver cirrhosis10.0AVP
14insulinoma10.0CASP1
15hypertension10.0AVP
16schnitzler syndrome10.0IL1R1
17sjogren's syndrome10.0IL1RAPL2
18melanoma10.0CASP1
19malignant glioma10.0CASP1
20pyoderma gangrenosum10.0NLRP3
21myeloid leukemia10.0CASP1
22amyloidosis10.0IL1RAPL2
23polymyalgia rheumatica10.0IL1RAPL2
24vasculitis10.0IL1RAPL2
25osteosarcoma10.0CASP1
26influenza10.0CASP1
27insulin resistance10.0IL18
28allergic rhinitis10.0IL18
29obesity10.0IL18
30cystic fibrosis10.0IL1R1
31cowpox10.0CASP1
32thrombocytopenia10.0IL1R1
33coronary heart disease10.0IL18
34cervical cancer10.0IL1R1
35pulmonary fibrosis10.0IL1B
36gingivitis10.0IL1B
37inflammatory bowel disease10.0IL1B
38galactosemia10.0IL1B
39encephalitis10.0IL1B
40posterior uveitis10.0
41char syndrome10.0
42cryopyrin-associated periodic syndrome10.0
43periodic fever, familial10.0
44pulmonary disease, chronic obstructive10.0IL1B
45vascular disease10.0IL1B
46eye disease10.0IL1B
47peritonitis10.0IL1B
48glioblastoma multiforme10.0CASP1
49aseptic meningitis10.0IL1R1, NLRP3
50myocardial infarction10.0CASP1, IL1RAPL2

Graphical network of the top 20 diseases related to Chronic Infantile Neurological Cutaneous Articular Syndrome:



Diseases related to chronic infantile neurological cutaneous articular syndrome

Clinical Features for Chronic Infantile Neurological Cutaneous Articular Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

607115

Symptoms:

49 (show all 46)
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • hearing loss/hypoacusia/deafness
  • sensorineural deafness/hearing loss
  • short hand/brachydactyly
  • urticaria
  • follicular/erythematous/edematous papules/milium
  • enanthema/aphtosa/aphta/leukoplakia
  • dermal/subcutaneous infiltration/induration
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • facial pain/cephalalgia/migraine
  • cranial hypertension
  • meningitis/meningeal syndrome
  • myalgia/muscular pain
  • bone/osseous hyperplasia
  • articular/joint pain/arthralgia
  • polynuclear cells/neutrophils anomalies/neutropenia
  • fever/chilling
  • asthenia/fatigue/weakness
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • large fontanelle/delayed fontanelle closure
  • frontal bossing/prominent forehead
  • proptosis/exophthalmos
  • mild visual loss/impaired visual acuity
  • cutaneous edema
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • lymphadenopathy/polyadenopathies
  • neuritis/polyneuritis/multineuritis
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • bone tumefaction/swelling
  • arthritis/synovitis/synovial proliferation
  • joint/articular deformation
  • anaemia
  • hyperleukocytosis/leukocytosis
  • platelet disorders/thrombopathies
  • visual loss/blindness/amblyopia
  • purpura/petichiae
  • retrobulbar optic neuritis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal dominant inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • prematurity

Drugs & Therapeutics for Chronic Infantile Neurological Cutaneous Articular Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Chronic Infantile Neurological Cutaneous Articular Syndrome

Drug clinical trials:

Search ClinicalTrials for Chronic Infantile Neurological Cutaneous Articular Syndrome

Search NIH Clinical Center for Chronic Infantile Neurological Cutaneous Articular Syndrome

Search CenterWatch for Chronic Infantile Neurological Cutaneous Articular Syndrome

Genetic Tests for Chronic Infantile Neurological Cutaneous Articular Syndrome

Sources:
20GeneTests, 22GTR
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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

Sources:
33MalaCards
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MalaCards organs/tissues related to Chronic Infantile Neurological Cutaneous Articular Syndrome:

33
Skin

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Chronic Infantile Neurological Cutaneous Articular Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.7AVP, IL1R1, CASP1, NLRP3
2MP:00053767.2IL1R1, NLRP3, CASP1, IL18, IL1B, AVP
3MP:00107687.0AVP, NLRP3, CASP1, IL18, IL1R1, IL1B

Publications for Chronic Infantile Neurological Cutaneous Articular Syndrome

Sources:
51PubMed
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Articles related to Chronic Infantile Neurological Cutaneous Articular Syndrome:

idTitleAuthorsYear
1
Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome. (15801036)
2005
2
CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes. (12673085)
2003
3
Chronic infantile neurological cutaneous articular syndrome: CD10 over-expression in neutrophils is a possible key to the pathogenesis of the disease. (12928894)
2003
4
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. (12032915)
2002
5
Chronic infantile neurological cutaneous articular syndrome in an Arab patient. (11737717)
2001
6
Chronic infantile neurological cutaneous articular syndrome in a patient from Japan. (9266194)
1997

Genetic Variations for Chronic Infantile Neurological Cutaneous Articular Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Chronic Infantile Neurological Cutaneous Articular Syndrome:

63 (show all 20)
id Symbol AA change Variation SNP ID
1NLRP3p.Asp305AsnVAR_014105
2NLRP3p.Phe311SerVAR_014106
3NLRP3p.Phe575SerVAR_014108
4NLRP3p.Thr350MetVAR_014366
5NLRP3p.His360ArgVAR_014367
6NLRP3p.Thr438AsnVAR_014368
7NLRP3p.Met664ThrVAR_014370
8NLRP3p.Tyr861CysVAR_023551
9NLRP3p.Ile174ThrVAR_043679
10NLRP3p.Arg262LeuVAR_043680
11NLRP3p.Arg262ProVAR_043681
12NLRP3p.Leu266HisVAR_043682
13NLRP3p.Asp305GlyVAR_043683
14NLRP3p.Gln308LeuVAR_043684
15NLRP3p.Glu356AspVAR_043686
16NLRP3p.Thr407ProVAR_043687
17NLRP3p.Thr438IleVAR_043688
18NLRP3p.Phe525LeuVAR_043690
19NLRP3p.Tyr572CysVAR_043691
20NLRP3p.Leu634PheVAR_043692

Expression for genes affiliated with Chronic Infantile Neurological Cutaneous Articular Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Chronic Infantile Neurological Cutaneous Articular Syndrome

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

Sources:
52QIAGEN, 30KEGG, 54Reactome, 38NCBI BioSystems Database, 53R&D Systems, 12EMD Millipore
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Pathways related to Chronic Infantile Neurological Cutaneous Articular Syndrome according to GeneCards/GeneDecks:

(show all 27)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.0CASP1
2
Hide members
10.0IL1R1
39.9IL18
4
Hide members
9.6NLRP3, CASP1
59.4CASP1, IL18
6
Hide members
9.1IL1B, IL1R1
79.1IL1B, IL1R1
89.0IL18, IL1B
99.0IL1B, IL18
10
Hide members
9.0IL1B, IL18
119.0IL1B, IL18
128.8IL1B, CASP1, NLRP3
13
Hide members
8.7IL1B, IL1R1, CASP1
14
Hide members
8.7IL1B, IL1R1, CASP1
15
Hide members
8.7IL1B, IL1R1, CASP1
16
Hide members
8.7IL1B, IL1R1, CASP1
178.6CASP1, IL18, IL1B
188.6CASP1, IL18, IL1B
198.6IL1B, IL18, CASP1
208.6IL1B, IL18, CASP1
21
Hide members
8.5IL1B, IL1R1, IL18
22
Hide members
8.2NLRP3, CASP1, IL18, IL1B
23
Hide members
8.2NLRP3, CASP1, IL18, IL1B
24
Hide members
8.1CASP1, IL18, IL1R1, IL1B
25
Hide members
8.1CASP1, IL18, IL1R1, IL1B
26
Hide members
7.7IL1B, IL1R1, IL18, CASP1, NLRP3
27
Hide members
7.7NLRP3, CASP1, IL18, IL1R1, IL1B

Compounds for genes affiliated with Chronic Infantile Neurological Cutaneous Articular Syndrome

Sources:
45Novoseek, 11DrugBank, 24HMDB, 60Tocris Bioscience, 50PharmGKB, 29IUPHAR
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Compounds related to Chronic Infantile Neurological Cutaneous Articular Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 99)
idCompoundScoreTop Affiliating Genes
1endotoxin4510.5CASP1
2glutamate459.8IL1RAPL2, AVP
3norepinephrine45 11 2411.8IL1RAPL2, AVP
4pralnacasan459.8IL18, CASP1
5[arg8]-vasopressin609.8NLRP3, AVP
6cycloheximide459.7IL18, IL1RAPL2
7d[leu4,lys8]-vp609.7NLRP3, AVP
8glucose459.7AVP, IL1RAPL2
9(d(ch2)51,tyr(me)2,arg8)-vasopressin609.6NLRP3, AVP
10acetyl-tyr-val-ala-asp-cho459.6CASP1, IL1B
11creatinine459.5CASP1, IL1RAPL2, AVP
12mevalonate459.3IL18, NLRP3, CASP1
13as 10160 4510.1IL1B, CASP1, IL1R1
14monosodium urate459.0IL1B, IL1RAPL2, IL1R1
15polysulfone459.0IL1B, IL1RAPL2, IL1R1
16leflunomide50 45 1111.0IL1B, IL1R1, IL1RAPL2
17sulfasalazine45 29 50 1112.0IL1R1, IL1RAPL2, IL1B
18diphenyleneiodonium459.0IL1B, CASP1, IL1R1
19flagellin45 2910.0IL1B, IL18, CASP1
20peptidoglycan45 2910.0CASP1, IL1R1, IL1B
21poly(i-c)458.9IL18, IL1B, CASP1
22il-12458.9IL1B, IL18, IL1R1
23lipoteichoic acid458.9IL1R1, IL1B, IL18
24ivig458.9IL1B, IL1R1, IL1RAPL2
25uric acid45 249.8CASP1, AVP, IL1R1
26ccl345 299.8IL1B, IL1R1, IL18
27thalidomide45 50 60 1111.6IL18, IL1R1, IL1B
28cuprophan458.6CASP1, IL1B, IL1RAPL2, IL1R1
29acth458.6IL1R1, IL1RAPL2, AVP, IL1B
30ribonucleic acid458.5IL1R1, IL1RAPL2, IL1B, CASP1
31threonine458.5IL1R1, IL1RAPL2, CASP1, NLRP3, AVP
32etanercept45 50 1110.4IL1RAPL2, IL1R1, IL18, IL1B
33il 10458.4IL1RAPL2, IL1R1, IL1B, IL18
34infliximab45 50 1110.4IL1B, IL1R1, IL18, IL1RAPL2
35neopterin458.4IL1R1, IL1B, IL1RAPL2, IL18
36n acetylcysteine458.4IL1B, CASP1, IL18, IL1R1
37sb 20358045 609.4IL18, CASP1, IL1R1, IL1B
38rantes458.4IL18, IL1R1, IL1RAPL2, IL1B
39actinomycin d458.4CASP1, IL1B, IL1RAPL2, IL1R1
40cyclosporin a45 29 6010.4IL1RAPL2, CASP1, IL18, IL1R1
41indomethacin45 60 29 1111.3IL1RAPL2, IL1R1, IL18, IL1B
42histamine45 29 2410.3IL1B, IL1RAPL2, IL18, CASP1
43methotrexate45 50 1110.1IL1RAPL2, NLRP3, IL18, IL1R1, IL1B
44pentoxifylline45 119.0IL1B, IL1RAPL2, IL1R1, CASP1, IL18
45aspirin45 50 29 2411.0IL18, IL1B, IL1RAPL2, IL1R1, CASP1
46vegf457.9IL18, IL1RAPL2, IL1R1, IL1B, CASP1
47retinoic acid45 248.7CASP1, IL1B, IL18, IL1R1, IL1RAPL2
48anakinra45 118.6IL1B, IL1RAPL2, IL1R1, IL18, CASP1, NLRP3
49dexamethasone45 50 29 1110.6IL1R1, CASP1, AVP, IL1B, IL1RAPL2, IL18
50nitric oxide45 11 249.5IL18, AVP, IL1RAPL2, IL1R1, IL1B, CASP1

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

Sources:
16Gene Ontology
See all sources

Cellular components related to Chronic Infantile Neurological Cutaneous Articular Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1NLRP3 inflammasome complexGO:0725599.5NLRP3, CASP1
2cytosolGO:0058297.8AVP, IL18, CASP1, NLRP3, IL1B
3extracellular regionGO:0055767.3AVP, CASP1, IL18, IL1R1, IL1B

Biological processes related to Chronic Infantile Neurological Cutaneous Articular Syndrome according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of interleukin-1 beta secretionGO:0507189.9CASP1, NLRP3
2interleukin-1 beta productionGO:0326119.5CASP1, IL1B
3response to ATPGO:0331989.5CASP1, IL1B
4cellular response to organic substanceGO:0713109.4CASP1, IL1B
5nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:0358729.3NLRP3, CASP1
6positive regulation of granulocyte macrophage colony-stimulating factor productionGO:0327259.3IL18, IL1B
7positive regulation of NF-kappaB import into nucleusGO:0423469.3IL18, IL1B
8positive regulation of interleukin-8 productionGO:0327579.2IL1B, IL18
9lipopolysaccharide-mediated signaling pathwayGO:0316639.2IL1B, IL18
10cellular response to organic cyclic compoundGO:0714079.1IL1B, IL18
11positive regulation of interferon-gamma productionGO:0327299.1IL18, IL1B
12cellular response to mechanical stimulusGO:0712608.9CASP1, IL18, IL1B
13cell-cell signalingGO:0072678.8IL18, IL1B, AVP
14inflammatory responseGO:0069548.7IL18, NLRP3, IL1B
15immune responseGO:0069558.5IL18, IL1R1, IL1B
16signal transductionGO:0071658.3CASP1, IL1B, NLRP3, AVP

Molecular functions related to Chronic Infantile Neurological Cutaneous Articular Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1interleukin-1 receptor activityGO:0049089.4IL1RAPL2, IL1R1

Products for genes affiliated with Chronic Infantile Neurological Cutaneous Articular Syndrome

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Sources for Chronic Infantile Neurological Cutaneous Articular Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet