FCU
MCID: FML052
MIFTS: 64

Familial Cold Autoinflammatory Syndrome (FCU) malady

Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Immune diseases, Blood diseases, Cardiovascular diseases categories
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Summaries for Familial Cold Autoinflammatory Syndrome

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Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Familial cold autoinflammatory syndrome is a type of periodic fever syndrome. signs and symptoms may include include an itchy or burning rash; fever; and joint pain which are triggered by exposure to cold temperatures. it is inherited in an autosomal dominant manner and can be caused by mutations in the nlrp3 or nlrp12 genes. management of this condition involves avoiding exposure to cold temperatures and treatment with specific types of medications. last updated: 10/30/2013

MalaCards: Familial Cold Autoinflammatory Syndrome, also known as familial cold urticaria, is related to familial cold autoinflammatory syndrome 2 and urticaria, and has symptoms including chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis, sensorineural deafness/hearing loss and articular/joint pain/arthralgia. An important gene associated with Familial Cold Autoinflammatory Syndrome is NLRP3 (NLR family, pyrin domain containing 3), and among its related pathways are TRAF Pathway and Th17 Differentiation. The compounds acetyl-tyr-val-ala-asp-cho and mevalonate have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and monocytes, and related mouse phenotypes are renal/urinary system and integument.

Genetics Home Reference:21 Familial cold autoinflammatory syndrome is a condition that causes episodes of fever, skin rash, and joint pain after exposure to cold temperatures. These episodes usually begin in infancy and occur throughout life.

Wikipedia:65 Cold Urticaria (essentially meaning \"cold hives\") is an allergy where hives (urticaria) or large red... more...

Description from OMIM:47 120100

Aliases & Classifications for Familial Cold Autoinflammatory Syndrome

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Sources:
43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
familial cold urticaria:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

familial cold autoinflammatory syndrome 43 21 49
familial cold urticaria 43 22 21 49 62
fcas 43 21 49
cold hypersensitivity 21 45
fcu 21 49
cold-induced autoinflammatory syndrome, familial 47
familial cold-induced autoinflammatory syndrome 21
familial polymorphous cold eruption 43
fcas1 49


External Ids:

OMIM47 120100
ICD10 via Orphanet26 L50.2
SNOMED-CT via Orphanet59 238687000
UMLS via Orphanet63 C0343068

Related Diseases for Familial Cold Autoinflammatory Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Familial Cold Autoinflammatory Syndrome family:

Familial Cold Autoinflammatory Syndrome 1 Familial Cold Autoinflammatory Syndrome 2
Familial Cold Autoinflammatory Syndrome 3

Diseases related to Familial Cold Autoinflammatory Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1familial cold autoinflammatory syndrome 231.1NLRP12, LRP12
2urticaria30.5IL1RAPL2, CASP1, NLRP3
3amyloidosis30.5SAA1, MEFV, IL1RAPL2
4muckle-wells syndrome30.2NLRP3, CASP1, IL1B, IL1RAPL2, IL1R1, MEFV
5familial mediterranean fever30.2NLRP3, MEFV
6myositis30.1CASP1, IL1RAPL2
7chronic infantile neurological cutaneous articular syndrome29.8MEFV, IL1R1, IL1RAPL2, IL1B, NLRP3, CASP1
8familial cold autoinflammatory syndrome 110.4
9familial cold autoinflammatory syndrome 310.4
10cryopyrin-associated periodic syndrome10.3
11wells syndrome10.3
12palindromic rheumatism10.1MEFV
13schnitzler syndrome10.1IL1R1
14pyoderma gangrenosum10.1NLRP3, MEFV
15aseptic meningitis10.1IL1R1, NLRP3
16amyloidosis, renal10.1MEFV, SAA1
17amyloidosis, secondary10.1MEFV, SAA1
18brucellosis10.1SAA1, MEFV
19inclusion body myositis10.1
20mononeuropathy10.1
21adult-onset still's disease10.0IL1R1, IL1RAPL2
22rheumatic disease10.0MEFV, IL1R1
23interstitial lung disease10.0IL1RAPL2, IL1R1
24juvenile rheumatoid arthritis10.0IL1RAPL2, IL1R1
25ankylosing spondylitis10.0IL1R1, IL1RAPL2
26bronchitis10.0CASP1, SAA1
27graft versus host disease10.0IL1RAPL2, IL1R1
28gout10.0NLRP3, IL1B
29thymoma10.0IL1R1, IL1RAPL2
30pleurisy10.0IL1B, MEFV
31vasculitis10.0IL1RAPL2, MEFV
32bacterial vaginosis10.0IL1R1, IL1B
33iga glomerulonephritis10.0IL1R1, MEFV
34peritonitis10.0IL1B, MEFV
35chorioamnionitis10.0IL1B, IL1R1
36psoriatic arthritis10.0IL1RAPL2, IL1B
37blau syndrome10.0MEFV, IL1B, NLRP3
38newborn respiratory distress syndrome10.0IL1B, IL1RAPL2
39acute pancreatitis10.0CASP1, IL1RAPL2, IL1R1
40myocardial infarction10.0CASP1, IL1RAPL2, SAA1
41arthropathy10.0IL1RAPL2, IL1B, NLRP3
42periodontal disease10.0NLRP3, IL1B, IL1RAPL2
43synovitis10.0IL1R1, IL1B
44nephritis10.0IL1RAPL2, IL1R1
45shigellosis10.0IL1R1, IL1B, CASP1
46cerebral malaria10.0IL1B, IL1RAPL2, IL1R1
47periodontitis10.0IL1R1, IL1RAPL2, IL1B
48monocytic leukemia10.0CASP1, IL1B, IL1R1
49idiopathic pulmonary fibrosis10.0IL1B, IL1RAPL2, IL1R1
50type 1 diabetes mellitus10.0IL1B, IL1RAPL2, IL1R1

Graphical network of the top 20 diseases related to Familial Cold Autoinflammatory Syndrome:



Diseases related to familial cold autoinflammatory syndrome

Symptoms for Familial Cold Autoinflammatory Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

120100

Clinical features from OMIM:

120100

Symptoms:

49 (show all 17)
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • sensorineural deafness/hearing loss
  • articular/joint pain/arthralgia
  • autosomal dominant inheritance
  • thirst
  • dehydration/hydroelectrolytic loss
  • facial pain/cephalalgia/migraine
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • urticaria
  • follicular/erythematous/edematous papules/milium
  • pruritus/itching
  • purpura/petichiae
  • myalgia/muscular pain
  • arthritis/synovitis/synovial proliferation
  • fever/chilling
  • asthenia/fatigue/weakness
  • hyperhidrosis/increased sweating

Drugs & Therapeutics for Familial Cold Autoinflammatory Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Familial Cold Autoinflammatory Syndrome

Search NIH Clinical Center for Familial Cold Autoinflammatory Syndrome

Genetic Tests for Familial Cold Autoinflammatory Syndrome

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22GTR
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Genetic tests related to Familial Cold Autoinflammatory Syndrome:

id Genetic test Affiliating Genes
1 Familial Cold Urticaria22

Anatomical Context for Familial Cold Autoinflammatory Syndrome

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33MalaCards
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MalaCards organs/tissues related to Familial Cold Autoinflammatory Syndrome:

33
Skin, Bone, Monocytes

Animal Models for Familial Cold Autoinflammatory Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Familial Cold Autoinflammatory Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.6PLCG2, NLRP3, CASP1, IL1R1
2MP:00107718.5PLCG2, CASP1, NLRP3, MEFV, IL1R1
3MP:00053908.4PLCG2, MEFV, IL1R1, IL1B, NLRP3
4MP:00020068.3NLRP12, CASP1, PLCG2, IL1B, IL1R1
5MP:00053848.1NLRP12, NLRP3, MEFV, IL1R1, PLCG2, CASP1
6MP:00107687.9NLRP3, PLCG2, CASP1, IL1B, IL1R1, MEFV
7MP:00053977.7IL1R1, NLRP3, NLRP12, CASP1, PLCG2, IL1B
8MP:00053877.7NLRP3, NLRP12, PLCG2, IL1B, IL1R1, MEFV
9MP:00053767.3NLRP3, PLCG2, IL1B, CASP1, NLRP12, IL1R1

Publications for Familial Cold Autoinflammatory Syndrome

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52PubMed
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Articles related to Familial Cold Autoinflammatory Syndrome:

(show all 18)
idTitleAuthorsYear
1
"Mutation negative" familial cold autoinflammatory syndrome (FCAS) in an 8-year-old boy: clinical course and functional studies. (21833523)
2012
2
Interleukin-17 expression in the urticarial rash of familial cold autoinflammatory syndrome: a case report. (20716212)
2010
3
New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes. (18174231)
2008
4
Use of anakinra (Kineret) in the treatment of familial cold autoinflammatory syndrome with a 16-month follow-up. (18258152)
2008
5
Two pathogenic CIAS1 mutations and plasma cytokine profile in a Finnish patient with familial cold autoinflammatory syndrome responsive to anakinra. (18189199)
2008
6
A pilot study to evaluate the safety and efficacy of the long-acting interleukin-1 inhibitor rilonacept (interleukin-1 Trap) in patients with familial cold autoinflammatory syndrome. (18668591)
2008
7
A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome. (17333269)
2008
8
Successful treatment of renal amyloidosis due to familial cold autoinflammatory syndrome using an interleukin 1 receptor antagonist. (17336710)
2007
9
Response to IL-1-receptor antagonist in a child with familial cold autoinflammatory syndrome. (17300660)
2007
10
Monocytes from familial cold autoinflammatory syndrome patients are activated by mild hypothermia. (17320940)
2007
11
A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin. (17284928)
2007
12
Anakinra prevents symptoms of familial cold autoinflammatory syndrome and Raynaud's disease. (16981288)
2006
13
IL-converting enzyme/caspase-1 inhibitor VX-765 blocks the hypersensitive response to an inflammatory stimulus in monocytes from familial cold autoinflammatory syndrome patients. (16081838)
2005
14
Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. (15541451)
2004
15
A case of familial cold autoinflammatory syndrome confirmed by the presence of a CIAS1 mutation. (15149524)
2004
16
A large kindred with familial cold autoinflammatory syndrome. (12602672)
2003
17
Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. (11590390)
2001
18
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. (11687797)
2001

Variations for Familial Cold Autoinflammatory Syndrome

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Familial Cold Autoinflammatory Syndrome:

64
id Symbol AA change Variation ID SNP ID
1NLRP3p.Val200MetVAR_013227rs121908147
2NLRP3p.Ala441ValVAR_013229
3NLRP3p.Glu629GlyVAR_013230
4NLRP3p.Arg262TrpVAR_014104
5NLRP3p.Leu307ProVAR_014124
6NLRP3p.Phe525CysVAR_031853
7NLRP3p.Leu355ProVAR_043685rs28937896
8NLRP3p.Arg490LysVAR_043689rs145268073

Clinvar genetic disease variations for Familial Cold Autoinflammatory Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1NLRP3NM_004895.4(NLRP3): c.1322C> T (p.Ala441Val)single nucleotide variantPathogenicrs121908146GRCh37Chr 1, 247588067: 247588067
2NLRP3NM_004895.4(NLRP3): c.598G> A (p.Val200Met)single nucleotide variantPathogenicrs121908147GRCh37Chr 1, 247587343: 247587343
3NLRP3NM_004895.4(NLRP3): c.1886A> G (p.Glu629Gly)single nucleotide variantPathogenicrs121908148GRCh37Chr 1, 247588631: 247588631
4NLRP3NM_004895.4(NLRP3): c.1061C> T (p.Ala354Val)single nucleotide variantPathogenicrs121908149GRCh37Chr 1, 247587806: 247587806
5NLRP3NM_004895.4(NLRP3): c.784C> T (p.Arg262Trp)single nucleotide variantPathogenicrs121908150GRCh37Chr 1, 247587529: 247587529
6NLRP3NM_004895.4(NLRP3): c.1711G> C (p.Gly571Arg)single nucleotide variantPathogenicrs121908151GRCh37Chr 1, 247588456: 247588456
7NLRP3NM_004895.4(NLRP3): c.1724T> C (p.Phe575Ser)single nucleotide variantPathogenicrs121908152GRCh37Chr 1, 247588469: 247588469
8NLRP3NM_004895.4(NLRP3): c.913G> A (p.Asp305Asn)single nucleotide variantPathogenicrs121908153GRCh37Chr 1, 247587658: 247587658
9NLRP3NM_004895.4(NLRP3): c.932T> C (p.Phe311Ser)single nucleotide variantPathogenicrs121908154GRCh37Chr 1, 247587677: 247587677
10NLRP3NM_004895.4(NLRP3): c.1064T> C (p.Leu355Pro)single nucleotide variantPathogenicrs28937896GRCh37Chr 1, 247587809: 247587809

Expression for genes affiliated with Familial Cold Autoinflammatory Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Cold Autoinflammatory Syndrome

Search GEO for disease gene expression data for Familial Cold Autoinflammatory Syndrome.

Pathways for genes affiliated with Familial Cold Autoinflammatory Syndrome

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Sources:
50PathCards, 53QIAGEN, 54R&D Systems, 38NCBI BioSystems Database, 30KEGG, 60Thomson Reuters, 55Reactome
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Pathways related to Familial Cold Autoinflammatory Syndrome according to GeneCards/GeneDecks:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.0CASP1
2
Show member pathways
9.4IL1R1, IL1B
3
Show member pathways
Serotonin Transporter Activity38
9.4IL1R1, IL1B
49.3CASP1, IL1B
59.3IL1B, CASP1
69.1PLCG2, IL1B, IL1R1
79.1PLCG2, IL1B, IL1R1
8
Show member pathways
Cytoskeleton remodeling FAK signaling60
Development Endothelin 1 EDNRA transactivation of EGFR60
9.1IL1B, PLCG2, IL1R1
9
Show member pathways
9.1IL1B, PLCG2, IL1R1
109.0NLRP3, CASP1, IL1B
11
Show member pathways
9.0IL1B, CASP1, NLRP3
12
Show member pathways
IFN-gamma pathway38
9.0PLCG2, IL1B, CASP1
13
Show member pathways
8.9CASP1, IL1B, SAA1
14
Show member pathways
8.9CASP1, IL1R1, IL1B
15
Show member pathways
8.9IL1B, CASP1, IL1R1
16
Show member pathways
8.9IL1B, IL1R1, CASP1
17
Show member pathways
MAPK signaling pathway38
8.9IL1B, CASP1, IL1R1
18
Show member pathways
IL-1 Signaling Pathway38
IL1-mediated signaling events38
8.9IL1R1, IL1B, CASP1
19
Show member pathways
8.5IL1R1, CASP1, PLCG2, IL1B
20
Show member pathways
8.3IL1B, MEFV, CASP1, NLRP12, NLRP3
21
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways60
Immune response IL 1 signaling pathway60
7.9PLCG2, NLRP12, CASP1, IL1B, IL1R1, NLRP3

Compounds for genes affiliated with Familial Cold Autoinflammatory Syndrome

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Sources:
45Novoseek, 61Tocris Bioscience, 29IUPHAR, 3BitterDB, 11DrugBank, 51PharmGKB, 24HMDB
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Compounds related to Familial Cold Autoinflammatory Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 87)
idCompoundScoreTop Affiliating Genes
1acetyl-tyr-val-ala-asp-cho459.8IL1B, CASP1
2mevalonate459.7MEFV, CASP1, NLRP3
34-ipp619.7IL1R1, IL1B
4git 27619.6IL1R1, IL1B
5tlck459.6CASP1, IL1B
6ag-126459.6IL1B, CASP1
7muramyl dipeptide45 2910.6IL1B, CASP1
8gold sodium thiomalate459.6IL1B, IL1R1
9colchicine45 61 3 29 1113.5IL1RAPL2, MEFV, SAA1
10piroxicam45 1110.5IL1B, SAA1
11pirfenidone45 6110.5IL1R1, IL1B
12tenidap45 2910.4IL1B, SAA1, IL1R1
13amphotericin b459.4IL1RAPL2, IL1R1
14flagellin45 2910.3CASP1, IL1B
15monosodium urate459.3IL1RAPL2, IL1B, IL1R1
16as 10145 6110.3IL1R1, CASP1, IL1B
17polysulfone459.3IL1R1, IL1B, IL1RAPL2
18leflunomide45 51 1111.3IL1R1, IL1RAPL2, IL1B
19sulfasalazine29 45 51 1112.3IL1RAPL2, IL1R1, IL1B
20etanercept45 51 1111.3IL1RAPL2, IL1R1, IL1B
21il 10459.3IL1B, IL1RAPL2, IL1R1
22diphenyleneiodonium459.3CASP1, IL1R1, IL1B
23infliximab45 51 1111.3IL1RAPL2, IL1B, IL1R1
24peptidoglycan45 2910.3IL1R1, CASP1, IL1B
25ivig459.3IL1R1, IL1RAPL2, IL1B
26neopterin459.2IL1R1, IL1RAPL2, IL1B
27corticosterone45 61 2411.2IL1R1, IL1RAPL2, IL1B
28leukotriene b445 61 2411.2IL1R1, IL1B, IL1RAPL2
29fibrinogen459.1PLCG2, IL1RAPL2, IL1R1, SAA1
30prostaglandin459.1IL1RAPL2, IL1B, IL1R1
31naproxen45 24 1111.0IL1B, IL1RAPL2
32methotrexate51 45 1111.0IL1B, IL1R1, IL1RAPL2, NLRP3
33n acetylcysteine458.9IL1B, IL1R1, CASP1, PLCG2
34indomethacin45 29 61 1111.9IL1RAPL2, IL1R1, PLCG2, IL1B
35cholesterol45 29 24 1111.9IL1R1, IL1RAPL2, PLCG2, SAA1
36acth458.9IL1RAPL2, IL1R1, IL1B
37arachidonic acid45 29 24 1111.9IL1R1, IL1RAPL2, IL1B, PLCG2
38h2o2458.9IL1RAPL2, PLCG2, IL1R1, CASP1
39cuprophan458.8CASP1, IL1R1, IL1RAPL2, IL1B
40pentoxifylline45 119.8IL1B, CASP1, IL1RAPL2, IL1R1
41aspirin45 51 29 2411.8IL1R1, IL1RAPL2, IL1B, CASP1
42ribonucleic acid458.8IL1R1, IL1B, CASP1, IL1RAPL2
43actinomycin d458.7IL1R1, IL1B, IL1RAPL2, CASP1
44pge2458.7IL1B, IL1R1, CASP1, IL1RAPL2
45cycloheximide458.6IL1B, CASP1, IL1R1, IL1RAPL2
46estrogen458.6SAA1, IL1R1, IL1RAPL2, CASP1, NLRP12
47anakinra45 119.5IL1B, IL1RAPL2, IL1R1, NLRP3, CASP1
48nitric oxide45 24 1110.4IL1B, PLCG2, CASP1, IL1RAPL2, IL1R1
49dexamethasone45 51 29 1111.4SAA1, IL1B, IL1RAPL2, IL1R1, CASP1
50endotoxin458.0IL1R1, IL1RAPL2, IL1B, CASP1, SAA1, MEFV

GO Terms for genes affiliated with Familial Cold Autoinflammatory Syndrome

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16Gene Ontology
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Cellular components related to Familial Cold Autoinflammatory Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1NLRP3 inflammasome complexGO:0725599.7NLRP3, CASP1

Biological processes related to Familial Cold Autoinflammatory Syndrome according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of interleukin-1 beta secretionGO:0507189.6NLRP12, CASP1, NLRP3
2negative regulation of NF-kappaB transcription factor activityGO:0320889.6NLRP12, NLRP3
3activation of cysteine-type endopeptidase activity involved in apoptotic processGO:0069199.5CASP1, NLRP3, NLRP12
4nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:0358729.5MEFV, CASP1, NLRP3
5neutrophil chemotaxisGO:0305939.5IL1B, SAA1
6response to ATPGO:0331989.5IL1B, CASP1
7cellular response to organic substanceGO:0713109.4CASP1, IL1B
8regulation of inflammatory responseGO:0507279.4IL1R1, CASP1
9negative regulation of inflammatory responseGO:0507289.3SAA1, MEFV, NLRP3, NLRP12
10cellular response to mechanical stimulusGO:0712609.3CASP1, IL1B
11interleukin-1 beta productionGO:0326119.3NLRP3, CASP1, IL1B
12inflammatory responseGO:0069549.2IL1B, MEFV, NLRP3
13innate immune responseGO:0450878.7SAA1, MEFV, PLCG2, CASP1, NLRP3
14signal transductionGO:0071658.1NLRP12, CASP1, IL1B, LRP12, NLRP3

Molecular functions related to Familial Cold Autoinflammatory Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cysteine-type endopeptidase activator activity involved in apoptotic processGO:0086569.6NLRP12, CASP1
2interleukin-1 receptor activityGO:0049089.2IL1RAPL2, IL1R1

Products for genes affiliated with Familial Cold Autoinflammatory Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Cold Autoinflammatory Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet