CINCA
MCID: CHR282
MIFTS: 63

Chronic Infantile Neurological Cutaneous Articular Syndrome (CINCA) malady

Eye diseases, Bone diseases, Skin diseases, Blood diseases, Neuronal diseases categories

Summaries for Chronic Infantile Neurological Cutaneous Articular Syndrome

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 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 arthropathy and uveitis, and has symptoms including anaemia, joint/articular deformation and arthritis/synovitis/synovial proliferation. 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, bone and liver, 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:46 607115

Aliases & Classifications for Chronic Infantile Neurological Cutaneous Articular Syndrome

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

48
cinca syndrome:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

chronic infantile neurological cutaneous articular syndrome 42 20 22 48
cinca syndrome 42 21 46 44 48
infantile onset multisystem inflammatory disease 42 21
prieur-griscelli syndrome 21 48
iomid syndrome 21 48
cinca 42 21
chronic infantile neurological, cutaneous, and articular syndrome 60
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 42
infantile-onset multisystem inflammatory disease 48
neonatal onset multisystem inflammatory disease 21
neonatal-onset multisystem inflammatory disease 48
nomid syndrome 48
iomid 42
nomid 21


External Ids:

OMIM46 607115
SNOMED-CT via Orphanet57 239826001
ICD10 via Orphanet26 E85.0

Related Diseases for Chronic Infantile Neurological Cutaneous Articular Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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
1arthropathy30.1IL1RAPL2, IL1B, NLRP3
2uveitis29.9IL1R1
3familial mediterranean fever29.9IL1B, CASP1, NLRP3
4familial cold autoinflammatory syndrome29.9NLRP3, CASP1, IL1R1, IL1B
5neurologic diseases10.6
6pseudopapilledema10.3
7cerebrovascular disease10.3
8cinca syndrome with nlrp3 mutations10.1
9cinca syndrome without cias1 mutations10.1
10ischemia10.0CASP1
11liver cirrhosis10.0AVP
12insulinoma10.0CASP1
13hypertension10.0AVP
14schnitzler syndrome10.0IL1R1
15sjogren's syndrome10.0IL1RAPL2
16melanoma10.0CASP1
17malignant glioma10.0CASP1
18pyoderma gangrenosum10.0NLRP3
19myeloid leukemia10.0CASP1
20amyloidosis10.0IL1RAPL2
21polymyalgia rheumatica10.0IL1RAPL2
22vasculitis10.0IL1RAPL2
23osteosarcoma10.0CASP1
24influenza10.0CASP1
25insulin resistance10.0IL18
26allergic rhinitis10.0IL18
27obesity10.0IL18
28cystic fibrosis10.0IL1R1
29cowpox10.0CASP1
30thrombocytopenia10.0IL1R1
31coronary heart disease10.0IL18
32cervical cancer10.0IL1R1
33pulmonary fibrosis10.0IL1B
34gingivitis10.0IL1B
35inflammatory bowel disease10.0IL1B
36galactosemia10.0IL1B
37encephalitis10.0IL1B
38pulmonary disease, chronic obstructive10.0IL1B
39vascular disease10.0IL1B
40eye disease10.0IL1B
41peritonitis10.0IL1B
42glioblastoma multiforme10.0CASP1
43aseptic meningitis10.0NLRP3, IL1R1
44myocardial infarction10.0IL1RAPL2, CASP1
45dermatitis10.0IL18, NLRP3
46herpes simplex10.0CASP1, IL1RAPL2
47skin disease10.0IL1B
48myositis10.0CASP1, IL1RAPL2
49ovarian cancer10.0IL1RAPL2, CASP1
50thymoma10.0IL1RAPL2, IL1R1

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

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

607115

Symptoms:

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

Drugs & Therapeutics for Chronic Infantile Neurological Cutaneous Articular Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
32MalaCards
See all sources

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

32
Skin, Bone, Liver, Eye

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

About this section
Sources:
36MGI
See all sources

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

36
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

About this section

Genetic Variations for Chronic Infantile Neurological Cutaneous Articular Syndrome

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Chronic Infantile Neurological Cutaneous Articular Syndrome:

62 (show all 20)
id Symbol AA change Variation ID 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

About this section
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

About this section
Sources:
51QIAGEN, 29KEGG, 53Reactome, 37NCBI BioSystems Database, 52R&D Systems, 12EMD Millipore
See all sources

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
9.6CASP1, NLRP3
59.4IL18, CASP1
6
Hide members
9.1IL1B, IL1R1
79.1IL1B, IL1R1
89.0IL1B, IL18
99.0IL18, IL1B
10
Hide members
9.0IL1B, IL18
119.0IL18, IL1B
128.8CASP1, IL1B, NLRP3
13
Hide members
8.7IL1B, IL1R1, CASP1
14
Hide members
8.7IL1B, IL1R1, CASP1
15
Hide members
8.7CASP1, IL1R1, IL1B
16
Hide members
8.7CASP1, IL1R1, IL1B
178.6CASP1, IL1B, IL18
188.6CASP1, IL18, IL1B
198.6IL1B, IL18, CASP1
208.6IL18, IL1B, CASP1
21
Hide members
8.5IL18, IL1R1, IL1B
22
Hide members
8.2IL1B, CASP1, NLRP3, IL18
23
Hide members
8.2IL1B, NLRP3, IL18, CASP1
24
Hide members
8.1IL1R1, IL1B, IL18, CASP1
25
Hide members
8.1CASP1, IL1R1, IL1B, IL18
26
Hide members
7.7IL1R1, CASP1, NLRP3, IL18, IL1B
27
Hide members
7.7NLRP3, IL1R1, IL18, CASP1, IL1B

Compounds for genes affiliated with Chronic Infantile Neurological Cutaneous Articular Syndrome

About this section
Sources:
44Novoseek, 11DrugBank, 24HMDB, 59Tocris Bioscience, 49PharmGKB, 28IUPHAR
See all sources

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

(show top 50)    (show all 99)
idCompoundScoreTop Affiliating Genes
1endotoxin4410.5CASP1
2glutamate449.8IL1RAPL2, AVP
3norepinephrine44 11 2411.8IL1RAPL2, AVP
4pralnacasan449.8IL18, CASP1
5[arg8]-vasopressin599.8NLRP3, AVP
6cycloheximide449.7IL18, IL1RAPL2
7d[leu4,lys8]-vp599.7NLRP3, AVP
8glucose449.7AVP, IL1RAPL2
9(d(ch2)51,tyr(me)2,arg8)-vasopressin599.6NLRP3, AVP
10acetyl-tyr-val-ala-asp-cho449.6CASP1, IL1B
11creatinine449.5CASP1, IL1RAPL2, AVP
12mevalonate449.3IL18, NLRP3, CASP1
13as 10159 4410.1IL1B, CASP1, IL1R1
14monosodium urate449.0IL1B, IL1RAPL2, IL1R1
15polysulfone449.0IL1B, IL1RAPL2, IL1R1
16leflunomide49 44 1111.0IL1B, IL1R1, IL1RAPL2
17sulfasalazine44 28 49 1112.0IL1R1, IL1RAPL2, IL1B
18diphenyleneiodonium449.0IL1B, CASP1, IL1R1
19flagellin44 2810.0IL1B, IL18, CASP1
20peptidoglycan44 2810.0CASP1, IL1R1, IL1B
21poly(i-c)448.9IL18, IL1B, CASP1
22il-12448.9IL1B, IL18, IL1R1
23lipoteichoic acid448.9IL1R1, IL1B, IL18
24ivig448.9IL1B, IL1R1, IL1RAPL2
25uric acid44 249.8CASP1, AVP, IL1R1
26ccl344 289.8IL1B, IL1R1, IL18
27thalidomide44 49 59 1111.6IL18, IL1R1, IL1B
28cuprophan448.6CASP1, IL1B, IL1RAPL2, IL1R1
29acth448.6IL1R1, IL1RAPL2, AVP, IL1B
30ribonucleic acid448.5IL1R1, IL1RAPL2, IL1B, CASP1
31threonine448.5IL1R1, IL1RAPL2, CASP1, NLRP3, AVP
32etanercept44 49 1110.4IL1RAPL2, IL1R1, IL18, IL1B
33il 10448.4IL1RAPL2, IL1R1, IL1B, IL18
34infliximab44 49 1110.4IL1B, IL1R1, IL18, IL1RAPL2
35neopterin448.4IL1R1, IL1B, IL1RAPL2, IL18
36n acetylcysteine448.4IL1B, CASP1, IL18, IL1R1
37sb 20358044 599.4IL18, CASP1, IL1R1, IL1B
38rantes448.4IL18, IL1R1, IL1RAPL2, IL1B
39actinomycin d448.4CASP1, IL1B, IL1RAPL2, IL1R1
40cyclosporin a44 28 5910.4IL1RAPL2, CASP1, IL18, IL1R1
41indomethacin44 59 28 1111.3IL1RAPL2, IL1R1, IL18, IL1B
42histamine44 28 2410.3IL1B, IL1RAPL2, IL18, CASP1
43methotrexate44 49 1110.1IL1RAPL2, NLRP3, IL18, IL1R1, IL1B
44pentoxifylline44 119.0IL1B, IL1RAPL2, IL1R1, CASP1, IL18
45aspirin44 49 28 2411.0IL18, IL1B, IL1RAPL2, IL1R1, CASP1
46vegf447.9IL18, IL1RAPL2, IL1R1, IL1B, CASP1
47retinoic acid44 248.7CASP1, IL1B, IL18, IL1R1, IL1RAPL2
48anakinra44 118.6IL1B, IL1RAPL2, IL1R1, IL18, CASP1, NLRP3
49dexamethasone44 49 28 1110.6IL1R1, CASP1, AVP, IL1B, IL1RAPL2, IL18
50nitric oxide44 11 249.5IL18, AVP, IL1RAPL2, IL1R1, IL1B, CASP1

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

About this section
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Chronic Infantile Neurological Cutaneous Articular Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet