MCID: CNC002
MIFTS: 55

Cinca Syndrome malady

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

Aliases & Classifications for Cinca Syndrome

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Sources:
45OMIM, 10diseasecard, 43Novoseek, 47Orphanet, 60UMLS, 26ICD10 via Orphanet
See all sources

Cinca Syndrome, Aliases & Descriptions:

Name: Cinca Syndrome 45 10 43 47
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 60
Chronic Infantile Neurological Cutaneous Articular Syndrome 47
Infantile-Onset Multisystem Inflammatory Disease 47
 
Neonatal-Onset Multisystem Inflammatory Disease 47
Prieur-Griscelli Syndrome 47
Nomid Syndrome 47
Iomid Syndrome 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
cinca syndrome:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal


External Ids:

OMIM45 607115
Orphanet47 1451
ICD10 via Orphanet26 E85.0

Summaries for Cinca Syndrome

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OMIM:45 Chronic infantile neurologic cutaneous and articular (CINCA) syndrome is a severe chronic inflammatory disease of early... (607115) more...

MalaCards based summary: Cinca Syndrome, also known as chronic infantile neurological, cutaneous, and articular syndrome, is related to muckle-wells syndrome and arthropathy, and has symptoms including abnormality of the oral cavity, sensorineural hearing impairment and optic atrophy. An important gene associated with Cinca Syndrome is NLRP3 (NLR family, pyrin domain containing 3), and among its related pathways are Hypertrophy Model and TRAF Pathway. The compounds lipoteichoic acid and tenidap have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and neutrophil, and related mouse phenotypes are tumorigenesis and skeleton.

Related Diseases for Cinca Syndrome

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Diseases related to Cinca Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 105)
idRelated DiseaseScoreTop Affiliating Genes
1muckle-wells syndrome29.9IL1RAPL2, IL1B, CASP1, NLRP3, IL1R1, MEFV
2arthropathy29.7IL1RN, IL1RAPL2, IL1B, CRP, NLRP3
3palindromic rheumatism10.5MEFV
4cervical adenitis10.5MVK
5pericarditis10.5MEFV
6dengue shock syndrome10.5IL1RN
7gastric cancer risk after h. pylori infection10.5IL1RN
8polyarteritis nodosa10.5MEFV
9wells syndrome10.5
10septic arthritis10.4CRP
11schnitzler syndrome10.4IL1R1, IL1RN
12aseptic meningitis10.4IL1R1, NLRP3
13intervertebral disc disease10.4IL1B
14hyper-igd syndrome10.4IL1RN, MVK
15periodontitis10.4IL1B
16chronic infantile neurological cutaneous articular syndrome10.3
17cinca syndrome with nlrp3 mutations10.3
18cinca syndrome without nlrp3 mutations10.3
19mevalonic aciduria10.3MVK, IL1RN
20alopecia areata10.3IL1RN, IL1R1
21neisseria meningitidis infection10.3IL1R1, IL1RN
22pseudopapilledema10.3
23cryopyrin-associated periodic syndrome10.3
24conjunctivitis10.3TNFRSF1A, NLRP3
25pleurisy10.3IL1B, MEFV
26pyoderma gangrenosum10.3MEFV, NLRP3, MVK
27secondary amyloidosis10.3CRP, MEFV
28bacterial vaginosis10.3IL1B, IL1R1
29relapsing-remitting multiple sclerosis10.3IL1RN, IL18
30cowpox10.2CASP1, TNFRSF1A
31gout10.2IL1B, NLRP3
32periodontal disease10.2CRP
33familial mediterranean fever, ar10.2TNFRSF1A, MEFV, NLRP3
34periodic fever, familial10.2TNFRSF1A, MEFV, MVK
35relapsing fever10.2MEFV, MVK, TNFRSF1A
36acute graft versus host disease10.2IL1RN, IL1R1, IL18
37toxic shock syndrome10.2IL1B, IL1RN
38gastritis10.2IL1RN, IL1RAPL2
39arthritis10.2IL1B, TNFRSF1A
40acute respiratory distress syndrome10.2IL1B, IL1RN
41shigellosis10.2CASP1, IL1R1, IL1B
42bacterial meningitis10.2IL1B, CRP
43exanthem10.2IL1RN, NLRP3, CRP
44pulmonary disease, chronic obstructive10.2IL1B, CRP
45osteoporosis10.1IL1RN, IL1RAPL2
46spondylarthropathy10.1CRP, IL1RAPL2
47behcet's disease10.1CRP, MEFV, IL18
48glomerulonephritis10.1IL1R1, IL1RN, IL1B
49urticaria10.1IL1RAPL2, CASP1, NLRP3
50hydrocephalus10.1

Graphical network of the top 20 diseases related to Cinca Syndrome:



Diseases related to cinca syndrome

Symptoms for Cinca Syndrome

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Clinical features from OMIM:

607115

Symptoms:

 47 (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

HPO human phenotypes related to Cinca Syndrome:

(show all 36)
id Description Frequency HPO Source Accession
1 abnormality of the oral cavity hallmark (90%) HP:0000163
2 sensorineural hearing impairment hallmark (90%) HP:0000407
3 optic atrophy hallmark (90%) HP:0000648
4 urticaria hallmark (90%) HP:0001025
5 brachydactyly syndrome hallmark (90%) HP:0001156
6 meningitis hallmark (90%) HP:0001287
7 abnormality of neutrophils hallmark (90%) HP:0001874
8 nausea and vomiting hallmark (90%) HP:0002017
9 migraine hallmark (90%) HP:0002076
10 increased intracranial pressure hallmark (90%) HP:0002516
11 arthralgia hallmark (90%) HP:0002829
12 myalgia hallmark (90%) HP:0003326
13 abnormality of temperature regulation hallmark (90%) HP:0004370
14 inflammatory abnormality of the eye hallmark (90%) HP:0100533
15 abnormality of the fontanelles or cranial sutures typical (50%) HP:0000235
16 macrocephaly typical (50%) HP:0000256
17 visual impairment typical (50%) HP:0000505
18 proptosis typical (50%) HP:0000520
19 edema typical (50%) HP:0000969
20 polyneuropathy typical (50%) HP:0001271
21 arthritis typical (50%) HP:0001369
22 splenomegaly typical (50%) HP:0001744
23 abnormality of thrombocytes typical (50%) HP:0001872
24 anemia typical (50%) HP:0001903
25 leukocytosis typical (50%) HP:0001974
26 frontal bossing typical (50%) HP:0002007
27 hepatomegaly typical (50%) HP:0002240
28 skeletal dysplasia typical (50%) HP:0002652
29 lymphadenopathy typical (50%) HP:0002716
30 visual impairment occasional (7.5%) HP:0000505
31 limitation of joint mobility occasional (7.5%) HP:0001376
32 premature birth occasional (7.5%) HP:0001622
33 subcutaneous hemorrhage occasional (7.5%) HP:0001933
34 reduced bone mineral density occasional (7.5%) HP:0004349
35 cognitive impairment occasional (7.5%) HP:0100543
36 retrobulbar optic neuritis occasional (7.5%) HP:0100654

Drugs & Therapeutics for Cinca Syndrome

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Drug clinical trials:

Search ClinicalTrials for Cinca Syndrome

Search NIH Clinical Center for Cinca Syndrome

Genetic Tests for Cinca Syndrome

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Anatomical Context for Cinca Syndrome

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MalaCards organs/tissues related to Cinca Syndrome:

31
Bone, Eye, Neutrophil, Skin, Liver

Animal Models for Cinca Syndrome or affiliated genes

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Publications for Cinca Syndrome

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Articles related to Cinca Syndrome:

(show all 11)
idTitleAuthorsYear
1
Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery. (22723549)
2012
2
CINCA syndrome: a rare cause of papilledema. The case of homozygous twins]. (20005004)
2010
3
Twenty year follow up of a patient with a new de-novo NLRP3 mutation (S595G) and CINCA syndrome. (19890791)
2009
4
Exacerbation of skin lesions during fever in a patient with chronic infantile neurologic cutaneous articular (CINCA) syndrome]. (18558058)
2008
5
Clinical features of CINCA syndrome: effects and problems of IL-1Ra]. (17473513)
2007
6
Tailoring biological treatment: anakinra treatment of posterior uveitis associated with the CINCA syndrome. (17244662)
2007
7
CINCA Syndrome. (18175851)
2007
8
Clinical and genetic characterization of Italian patients affected by CINCA syndrome. (16920754)
2007
9
Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene. (16449034)
2006
10
Hydrocephalus in CINCA syndrome treated with anakinra. (16525848)
2006
11
The T348M mutated form of cryopyrin is associated with defective lipopolysaccharide-induced interleukin 10 production in CINCA syndrome. (16100350)
2005

Variations for Cinca Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Cinca 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

Clinvar genetic disease variations for Cinca Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1NLRP3NM_004895.4(NLRP3): c.1724T> C (p.Phe575Ser)single nucleotide variantPathogenicrs121908152GRCh37Chr 1, 247588469: 247588469
2NLRP3NM_004895.4(NLRP3): c.913G> A (p.Asp305Asn)single nucleotide variantPathogenicrs121908153GRCh37Chr 1, 247587658: 247587658
3NLRP3NM_004895.4(NLRP3): c.932T> C (p.Phe311Ser)single nucleotide variantPathogenicrs121908154GRCh37Chr 1, 247587677: 247587677

Expression for genes affiliated with Cinca Syndrome

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Search GEO for disease gene expression data for Cinca Syndrome.

Pathways for genes affiliated with Cinca Syndrome

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Pathways related to Cinca Syndrome according to GeneCards Suite gene sharing:

(show all 36)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8IL1R1, IL18
2
Show member pathways
9.7CASP1, TNFRSF1A
3
Show member pathways
Serotonin Transporter Activity36
9.7IL1B, IL1R1
49.5IL18, IL1B
59.5IL1B, IL18
69.5IL18, IL1B
7
Show member pathways
Development Thrombopoetin signaling via JAK STAT pathway58
9.5CRP, IL1RN
8
Show member pathways
Apoptosis Modulation and Signaling36
Apoptosis36
9.4IL1R1, CASP1, TNFRSF1A
9
Show member pathways
Immune response IL 12 induced IFN gamma production58
9.3IL1R1, IL1B, IL18
109.2IL1B, IL1R1, TNFRSF1A
11
Show member pathways
9.2TNFRSF1A, IL1R1, IL1B
12
Show member pathways
9.2IL1B, TNFRSF1A, IL1R1
139.2IL1R1, IL1B, TNFRSF1A
14
Show member pathways
Transcription NF kB signaling pathway58
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response58
9.2TNFRSF1A, IL1B, IL1R1
159.2IL18, CASP1, IL1B
169.2CASP1, PYCARD, TNFRSF1A
17
Show member pathways
9.1IL18, IL1B, TNFRSF1A
189.1IL18, TNFRSF1A, IL1B
19
Show member pathways
9.1IL1B, TNFRSF1A, IL18
209.0TNFRSF1A, PYCARD, IL1B
21
Show member pathways
IL-1 Signaling Pathway36
IL1-mediated signaling events36
9.0CASP1, IL1RN, IL1R1, IL1B
22
Show member pathways
8.9CASP1, IL1R1, TNFRSF1A, IL1B
23
Show member pathways
MAPK signaling pathway36
8.9IL1B, TNFRSF1A, CASP1, IL1R1
248.8NLRP3, CASP1, IL1B, PYCARD
25
Show member pathways
8.8IL1B, IL1R1, IL18, TNFRSF1A
26
Show member pathways
8.8IL1B, TNFRSF1A, IL18, IL1R1
27
Show member pathways
8.7CASP1, PYCARD, IL18, IL1B
288.7PYCARD, CASP1, IL1B, IL18
29
Show member pathways
8.7IL1B, PYCARD, IL18, CASP1
30
Show member pathways
8.5IL1R1, IL1RN, IL1B, CASP1, IL18
31
Show member pathways
8.5IL1R1, IL18, CASP1, IL1B, IL1RN
32
Show member pathways
8.5IL18, TNFRSF1A, IL1R1, CASP1, IL1B
33
Show member pathways
8.5IL1B, IL18, TNFRSF1A, CASP1, IL1R1
34
Show member pathways
8.1IL18, IL1B, CASP1, NLRP3, MEFV, PYCARD
35
Show member pathways
8.0IL18, TNFRSF1A, IL1B, CASP1, NLRP3, PYCARD
36
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways58
Immune response IL 1 signaling pathway58
7.8NLRP3, IL1B, IL1RN, IL1R1, IL18, PYCARD

Compounds for genes affiliated with Cinca Syndrome

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Compounds related to Cinca Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 152)
idCompoundScoreTop Affiliating Genes
1lipoteichoic acid439.2IL1R1, IL18, IL1RN, IL1B
2tenidap43 2810.2IL1B, IL1R1, CRP
3peptidoglycan43 2810.2IL1R1, IL1B, IL1RN, CASP1
4monosodium urate439.0IL1RAPL2, IL1R1, IL1B
5chloroquine43 2 49 28 1212.9IL18, TNFRSF1A, IL1R1, IL1RN
6mevalonate438.8TNFRSF1A, MVK, MEFV, IL18, NLRP3, CASP1
7thalidomide43 49 59 1211.8IL1R1, IL18, TNFRSF1A, IL1B
8amphotericin b438.8IL1RAPL2, IL1R1, CRP, IL1RN
9p003438.7CRP, IL1RN, TNFRSF1A, IL18, IL1R1
10il 10438.5IL18, IL1R1, IL1RAPL2, IL1RN, IL1B
11leflunomide43 49 1210.4IL1RAPL2, IL1B, TNFRSF1A, IL1R1, IL1RN
12adalimumab43 49 1210.3CRP, TNFRSF1A, IL1RAPL2, IL1RN, IL1R1
13polyethylene glycol438.3IL1RAPL2, CRP, IL1RN, IL1R1, TNFRSF1A
14prednisolone43 28 1210.3CRP, IL1RAPL2, IL1R1, IL1RN, IL18
15pravastatin43 49 28 24 1212.3CASP1, IL18, CRP, IL1B
16rosiglitazone28 43 49 24 1212.3IL18, CRP, IL1RAPL2, IL1R1, IL1RN
17polysulfone438.3IL1RAPL2, IL1B, CRP, IL1RN, IL1R1
18sulfasalazine28 43 49 1211.3IL1R1, CRP, IL1B, IL1RAPL2, IL1RN
19n acetylcysteine438.2IL18, CRP, CASP1, IL1B, IL1R1, TNFRSF1A
20tgf beta1438.2IL18, IL1RN, IL1B, IL1RAPL2, TNFRSF1A
21pentoxifylline43 129.1CASP1, IL1B, IL1RN, IL1R1, IL18, IL1RAPL2
22cuprophan438.1TNFRSF1A, IL1RAPL2, IL1R1, CASP1, IL1RN, IL1B
23ribonucleic acid438.0IL1R1, IL1B, CASP1, IL1RAPL2, TNFRSF1A, IL1RN
24cyclosporin a43 28 5910.0CASP1, IL1RN, IL1RAPL2, IL1R1, IL18, TNFRSF1A
25rantes438.0IL1R1, IL1RAPL2, IL1RN, IL1B, IL18, TNFRSF1A
26indomethacin43 28 59 1211.0IL1RAPL2, TNFRSF1A, IL1RN, IL18, IL1R1, IL1B
27fibrinogen438.0IL1R1, CRP, IL1RN, IL18, IL1RAPL2
28sb 20358043 598.9IL1B, TNFRSF1A, IL18, IL1R1, CASP1, CRP
29simvastatin43 49 59 28 24 1212.9IL18, IL1RAPL2, MVK, TNFRSF1A, CRP, IL1RN
30threonine437.9NLRP3, CASP1, IL1RN, IL1RAPL2, IL1R1, TNFRSF1A
31h2o2437.9IL18, TNFRSF1A, IL1R1, IL1RAPL2, IL1RN, CASP1
32lactate437.8IL1R1, CRP, CASP1, IL18, IL1RN, IL1RAPL2
33norepinephrine43 24 129.8CRP, IL1RN, IL1RAPL2, IL1R1, IL18, TNFRSF1A
34ivig437.8CRP, IL1R1, IL1RAPL2, TNFRSF1A, IL1RN, IL1B
35pge2437.7IL1R1, IL18, IL1B, IL1RN, CASP1, IL1RAPL2
36dexamethasone43 49 28 1210.6IL18, IL1R1, IL1RAPL2, IL1RN, IL1B, TNFRSF1A
37nitric oxide43 24 129.5CASP1, IL18, TNFRSF1A, IL1B, IL1RN, IL1RAPL2
38aspirin43 49 28 2410.5CASP1, IL1B, CRP, IL1RN, IL1RAPL2, IL1R1
39cholesterol43 28 24 1210.5IL1RAPL2, IL1R1, TNFRSF1A, IL1RN, IL18, MVK
40testosterone43 59 24 1210.5CASP1, TNFRSF1A, IL18, CRP, IL1R1, IL1RAPL2
41retinoic acid43 248.4IL1RN, IL1B, TNFRSF1A, CASP1, IL1RAPL2, IL1R1
42neopterin437.4TNFRSF1A, CRP, IL1B, IL18, IL1R1, IL1RAPL2
43infliximab43 49 129.4IL1RAPL2, IL1RN, CRP, IL1B, IL1R1, IL18
44etanercept43 49 129.4CRP, IL1B, IL1RN, IL1RAPL2, IL1R1, IL18
45creatinine437.3IL18, MVK, IL1RAPL2, IL1RN, CASP1, CRP
46methotrexate49 43 129.2TNFRSF1A, IL1B, CRP, NLRP3, IL18, IL1RN
47cycloheximide437.1CRP, IL1B, TNFRSF1A, IL18, IL1R1, CASP1
48vegf437.0CRP, CASP1, IL1RN, IL1B, IL1RAPL2, IL1R1
49anakinra43 128.0NLRP3, CRP, IL1B, IL1RN, IL1RAPL2, IL1R1
50endotoxin436.8CRP, TNFRSF1A, CASP1, IL1RAPL2, IL1R1, IL1RN

GO Terms for genes affiliated with Cinca Syndrome

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Cellular components related to Cinca Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1NLRP1 inflammasome complexGO:00725589.6PYCARD, CASP1
2AIM2 inflammasome complexGO:00971699.5CASP1, PYCARD
3NLRP3 inflammasome complexGO:00725599.5NLRP3, CASP1, PYCARD
4extracellular spaceGO:00056158.1IL18, IL1RN, IL1B, CRP, TNFRSF1A
5cytosolGO:00058297.5IL1B, CASP1, NLRP3, PYCARD, MEFV, MVK
6extracellular regionGO:00055767.4CRP, PYCARD, TNFRSF1A, IL18, IL1R1, IL1B

Biological processes related to Cinca Syndrome according to GeneCards Suite gene sharing:

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cysteine-type endopeptidase activityGO:0200105610.0PYCARD, MEFV
2fever generationGO:00016609.9IL1RN, IL1B
3response to ATPGO:00331989.9CASP1, IL1B
4positive regulation of granulocyte macrophage colony-stimulating factor productionGO:00327259.9IL18, IL1B
5cellular response to organic substanceGO:00713109.8CASP1, IL1B
6positive regulation of NF-kappaB import into nucleusGO:00423469.8IL1B, IL18
7positive regulation of activated T cell proliferationGO:00421049.7IL18, PYCARD
8positive regulation of interleukin-1 beta secretionGO:00507189.7PYCARD, CASP1, NLRP3
9lipopolysaccharide-mediated signaling pathwayGO:00316639.7IL18, IL1B
10regulation of inflammatory responseGO:00507279.7IL1R1, CASP1, PYCARD
11activation of cysteine-type endopeptidase activity involved in apoptotic processGO:00069199.7PYCARD, CASP1, NLRP3
12cellular response to organic cyclic compoundGO:00714079.6IL18, IL1B
13response to lipopolysaccharideGO:00324969.6CASP1, IL1RN, TNFRSF1A
14positive regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:00432809.6NLRP3, PYCARD
15negative regulation of inflammatory responseGO:00507289.5NLRP3, MEFV, TNFRSF1A, MVK
16positive regulation of tumor necrosis factor productionGO:00327609.5TNFRSF1A, PYCARD
17cellular response to mechanical stimulusGO:00712609.5IL1B, TNFRSF1A, CASP1
18positive regulation of NF-kappaB transcription factor activityGO:00510929.5IL1B, PYCARD, NLRP3
19positive regulation of interleukin-6 productionGO:00327559.4PYCARD, IL1B
20positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.4CASP1, IL1B, TNFRSF1A
21nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:00358729.4PYCARD, MEFV, CASP1, NLRP3
22positive regulation of interferon-gamma productionGO:00327299.4IL1B, PYCARD, IL18
23response to hypoxiaGO:00016669.3TNFRSF1A, CASP1, CRP
24innate immune responseGO:00450879.2PYCARD, MEFV, NLRP3, CASP1
25interleukin-1 beta productionGO:00326119.2CASP1, PYCARD, NLRP3, IL1B
26immune responseGO:00069559.2IL1R1, IL1RN, IL1B, IL18
27acute-phase responseGO:00069539.2CRP, IL1RN
28cytokine-mediated signaling pathwayGO:00192218.8IL1B, IL1RAPL2, TNFRSF1A
29apoptotic processGO:00069158.7TNFRSF1A, PYCARD, CASP1, NLRP3, IL1B
30inflammatory responseGO:00069547.8IL18, IL1B, MEFV, NLRP3, TNFRSF1A, PYCARD

Molecular functions related to Cinca Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cysteine-type endopeptidase activator activity involved in apoptotic processGO:00086569.6CASP1, PYCARD
2interleukin-1 receptor bindingGO:00051499.3IL1B, IL1RN
3interleukin-1 receptor activityGO:00049089.3IL1RAPL2, IL1R1
4protease bindingGO:00020209.2IL1R1, TNFRSF1A, PYCARD

Products for genes affiliated with Cinca Syndrome

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Sources for Cinca 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