FCU
MCID: FML052
MIFTS: 64

Familial Cold Autoinflammatory Syndrome (FCU) malady

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

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NIH Rare Diseases:42 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 based summary: Familial Cold Autoinflammatory Syndrome, also known as familial cold urticaria, is related to familial cold autoinflammatory syndrome 2 and urticaria, and has symptoms including hyperhidrosis/increased sweating, urticaria and follicular/erythematous/edematous papules/milium. 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:46 120100

Aliases & Classifications for Familial Cold Autoinflammatory Syndrome

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 48Orphanet, 62UMLS, 22GTR, 44Novoseek, 46OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Familial Cold Autoinflammatory Syndrome, Aliases & Descriptions:

Name: Familial Cold Autoinflammatory Syndrome 42 21 48 62
Familial Cold Urticaria 42 22 21 48 62
Fcas 42 21 48
Familial Cold-Induced Autoinflammatory Syndrome 21 62
Cold Hypersensitivity 21 44
 
Fcu 21 48
Cold-Induced Autoinflammatory Syndrome, Familial 46
Familial Polymorphous Cold Eruption 42
Fcas1 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
familial cold urticaria:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: Normal


External Ids:

OMIM46 120100
ICD10 via Orphanet26 L50.2
UMLS via Orphanet63 C0343068

Related Diseases for Familial Cold Autoinflammatory Syndrome

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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 64)
idRelated DiseaseScoreTop Affiliating Genes
1familial cold autoinflammatory syndrome 231.4NLRP12, LRP12
2urticaria30.6IL1RAPL2, CASP1, NLRP3
3familial mediterranean fever30.6NLRP3, MEFV
4amyloidosis30.6SAA1, MEFV, IL1RAPL2
5myositis30.2CASP1, IL1RAPL2
6muckle-wells syndrome29.5NLRP3, CASP1, IL1B, IL1RAPL2, IL1R1, MEFV
7chronic infantile neurological cutaneous articular syndrome29.1MEFV, IL1R1, IL1RAPL2, IL1B, NLRP3, CASP1
8familial cold autoinflammatory syndrome 110.5
9familial cold autoinflammatory syndrome 310.5
10palindromic rheumatism10.5MEFV
11schnitzler syndrome10.4IL1R1
12pyoderma gangrenosum10.4NLRP3, MEFV
13keratitis10.3
14cryopyrin-associated periodic syndrome10.3
15wells syndrome10.3
16aseptic meningitis10.3IL1R1, NLRP3
17amyloidosis, renal10.3MEFV, SAA1
18amyloidosis, secondary10.3MEFV, SAA1
19brucellosis10.3SAA1, MEFV
20adult-onset still's disease10.2IL1R1, IL1RAPL2
21rheumatic disease10.2MEFV, IL1R1
22interstitial lung disease10.2IL1RAPL2, IL1R1
23juvenile rheumatoid arthritis10.2IL1RAPL2, IL1R1
24ankylosing spondylitis10.2IL1R1, IL1RAPL2
25non-suppurative otitis media10.1CASP1, SAA1
26graft versus host disease10.1IL1RAPL2, IL1R1
27gout10.1NLRP3, IL1B
28thymoma10.1IL1R1, IL1RAPL2
29pleurisy10.1IL1B, MEFV
30vasculitis10.1IL1RAPL2, MEFV
31inclusion body myositis10.1
32mononeuropathy10.1
33berger disease10.1IL1R1, MEFV
34bacterial vaginosis10.1IL1R1, IL1B
35peritonitis10.1IL1B, MEFV
36chorioamnionitis10.1IL1B, IL1R1
37psoriatic arthritis10.0IL1RAPL2, IL1B
38blau syndrome10.0MEFV, IL1B, NLRP3
39acute pancreatitis10.0CASP1, IL1RAPL2, IL1R1
40myocardial infarction10.0CASP1, IL1RAPL2, SAA1
41arthropathy9.9IL1RAPL2, IL1B, NLRP3
42periodontal disease9.9NLRP3, IL1B, IL1RAPL2
43synovitis9.9IL1R1, IL1B
44nephritis9.9IL1RAPL2, IL1R1
45shigellosis9.9IL1R1, IL1B, CASP1
46cerebral malaria9.9IL1B, IL1RAPL2, IL1R1
47periodontitis9.9IL1R1, IL1RAPL2, IL1B
48monocytic leukemia9.9CASP1, IL1B, IL1R1
49idiopathic pulmonary fibrosis9.9IL1B, IL1RAPL2, IL1R1
50colitis9.9IL1B, 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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Symptoms by clinical synopsis from OMIM:

120100

Clinical features from OMIM:

120100

Symptoms:

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

HPO human phenotypes related to Familial Cold Autoinflammatory Syndrome:

(show all 22)
id Description Frequency HPO Source Accession
1 hyperhidrosis hallmark (90%) HP:0000975
2 pruritus hallmark (90%) HP:0000989
3 urticaria hallmark (90%) HP:0001025
4 arthritis hallmark (90%) HP:0001369
5 subcutaneous hemorrhage hallmark (90%) HP:0001933
6 myalgia hallmark (90%) HP:0003326
7 abnormality of temperature regulation hallmark (90%) HP:0004370
8 nausea and vomiting typical (50%) HP:0002017
9 migraine typical (50%) HP:0002076
10 sensorineural hearing impairment occasional (7.5%) HP:0000407
11 dehydration occasional (7.5%) HP:0001944
12 arthralgia occasional (7.5%) HP:0002829
13 inflammatory abnormality of the eye occasional (7.5%) HP:0100533
14 renal amyloidosis rare (5%) HP:0001917
15 autosomal dominant inheritance HP:0000006
16 conjunctivitis HP:0000509
17 episodic fever HP:0001954
18 leukocytosis HP:0001974
19 headache HP:0002315
20 arthralgia HP:0002829
21 myalgia HP:0003326
22 infantile onset HP:0003593

Drugs & Therapeutics for Familial Cold Autoinflammatory Syndrome

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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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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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MalaCards organs/tissues related to Familial Cold Autoinflammatory Syndrome:

32
Skin, Bone, Monocytes

Animal Models for Familial Cold Autoinflammatory Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Familial Cold Autoinflammatory Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.6IL1R1, PLCG2, CASP1, NLRP3
2MP:00107718.5MEFV, IL1R1, PLCG2, CASP1, NLRP3
3MP:00053908.4NLRP3, PLCG2, IL1B, IL1R1, MEFV
4MP:00020068.3IL1R1, IL1B, PLCG2, CASP1, NLRP12
5MP:00053848.1MEFV, IL1R1, PLCG2, CASP1, NLRP12, NLRP3
6MP:00107687.9NLRP3, CASP1, PLCG2, IL1B, IL1R1, MEFV
7MP:00053977.7MEFV, IL1R1, IL1B, PLCG2, CASP1, NLRP12
8MP:00053877.7MEFV, IL1R1, IL1B, PLCG2, CASP1, NLRP12
9MP:00053767.3NLRP3, SAA1, MEFV, IL1R1, IL1B, PLCG2

Publications for Familial Cold Autoinflammatory Syndrome

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Articles related to Familial Cold Autoinflammatory Syndrome:

(show all 20)
idTitleAuthorsYear
1
First report of keratitis in familial cold autoinflammatory syndrome. (24862780)
2014
2
"Mutation negative" familial cold autoinflammatory syndrome (FCAS) in an 8-year-old boy: clinical course and functional studies. (21833523)
2012
3
Interleukin-17 expression in the urticarial rash of familial cold autoinflammatory syndrome: a case report. (20716212)
2010
4
Fever from the cold--familial cold autoinflammatory syndrome]. (19385344)
2009
5
New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes. (18174231)
2008
6
Use of anakinra (Kineret) in the treatment of familial cold autoinflammatory syndrome with a 16-month follow-up. (18258152)
2008
7
Two pathogenic CIAS1 mutations and plasma cytokine profile in a Finnish patient with familial cold autoinflammatory syndrome responsive to anakinra. (18189199)
2008
8
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
9
A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome. (17333269)
2008
10
Successful treatment of renal amyloidosis due to familial cold autoinflammatory syndrome using an interleukin 1 receptor antagonist. (17336710)
2007
11
Response to IL-1-receptor antagonist in a child with familial cold autoinflammatory syndrome. (17300660)
2007
12
Monocytes from familial cold autoinflammatory syndrome patients are activated by mild hypothermia. (17320940)
2007
13
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
14
Anakinra prevents symptoms of familial cold autoinflammatory syndrome and Raynaud's disease. (16981288)
2006
15
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
16
Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. (15541451)
2004
17
A case of familial cold autoinflammatory syndrome confirmed by the presence of a CIAS1 mutation. (15149524)
2004
18
A large kindred with familial cold autoinflammatory syndrome. (12602672)
2003
19
Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. (11590390)
2001
20
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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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:

6
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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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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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
9.4IL1B, IL1R1
3
Show member pathways
Serotonin Transporter Activity37
9.4IL1B, IL1R1
49.3CASP1, IL1B
59.3CASP1, IL1B
6
Show member pathways
9.1IL1R1, IL1B, PLCG2
7
Show member pathways
Cytoskeleton remodeling FAK signaling60
Development Endothelin 1 EDNRA transactivation of EGFR60
9.1IL1R1, IL1B, PLCG2
89.1PLCG2, IL1B, IL1R1
99.1PLCG2, IL1B, IL1R1
10
Show member pathways
9.0NLRP3, CASP1, IL1B
119.0NLRP3, CASP1, IL1B
12
Show member pathways
IFN-gamma pathway37
9.0IL1B, PLCG2, CASP1
13
Show member pathways
8.9SAA1, IL1B, CASP1
14
Show member pathways
8.9CASP1, IL1B, IL1R1
15
Show member pathways
IL-1 Signaling Pathway37
IL1-mediated signaling events37
8.9CASP1, IL1B, IL1R1
16
Show member pathways
8.9CASP1, IL1B, IL1R1
17
Show member pathways
MAPK signaling pathway37
8.9IL1R1, IL1B, CASP1
18
Show member pathways
8.9IL1R1, IL1B, CASP1
19
Show member pathways
8.5IL1R1, IL1B, PLCG2, CASP1
20
Show member pathways
8.3MEFV, IL1B, 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
7.9NLRP3, NLRP12, CASP1, PLCG2, IL1B, IL1R1

Compounds for genes affiliated with Familial Cold Autoinflammatory Syndrome

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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-cho449.8IL1B, CASP1
2mevalonate449.7MEFV, CASP1, NLRP3
3git 27619.7IL1B, IL1R1
44-ipp619.6IL1R1, IL1B
5tlck449.6IL1B, CASP1
6ag-126449.6IL1B, CASP1
7muramyl dipeptide44 2810.6CASP1, IL1B
8gold sodium thiomalate449.6IL1R1, IL1B
9piroxicam44 1110.6IL1B, SAA1
10colchicine44 61 2 28 1113.5IL1RAPL2, MEFV, SAA1
11pirfenidone44 6110.5IL1R1, IL1B
12tenidap44 2810.4IL1B, SAA1, IL1R1
13amphotericin b449.4IL1RAPL2, IL1R1
14il-12449.4IL1B, IL1R1
15monosodium urate449.3IL1RAPL2, IL1B, IL1R1
16as 10144 6110.3IL1R1, CASP1, IL1B
17polysulfone449.3IL1R1, IL1B, IL1RAPL2
18leflunomide44 50 1111.3IL1R1, IL1RAPL2, IL1B
19sulfasalazine28 44 50 1112.3IL1RAPL2, IL1R1, IL1B
20etanercept44 50 1111.3IL1RAPL2, IL1R1, IL1B
21il 10449.3IL1B, IL1RAPL2, IL1R1
22diphenyleneiodonium449.3CASP1, IL1R1, IL1B
23infliximab44 50 1111.3IL1RAPL2, IL1B, IL1R1
24peptidoglycan44 2810.3IL1R1, CASP1, IL1B
25ivig449.3IL1R1, IL1RAPL2, IL1B
26neopterin449.2IL1R1, IL1RAPL2, IL1B
27corticosterone44 61 2411.2IL1R1, IL1RAPL2, IL1B
28leukotriene b444 61 2411.2IL1B, IL1RAPL2, IL1R1
29fibrinogen449.1PLCG2, IL1RAPL2, IL1R1, SAA1
30prostaglandin449.1IL1B, IL1RAPL2, IL1R1
31naproxen44 24 1111.0IL1B, IL1RAPL2
32methotrexate50 44 1111.0IL1B, IL1R1, IL1RAPL2, NLRP3
33n acetylcysteine448.9IL1B, IL1R1, CASP1, PLCG2
34indomethacin44 28 61 1111.9IL1RAPL2, IL1R1, PLCG2, IL1B
35cholesterol44 28 24 1111.9IL1RAPL2, PLCG2, SAA1, IL1R1
36acth448.9IL1R1, IL1RAPL2, IL1B
37arachidonic acid44 28 24 1111.9IL1R1, PLCG2, IL1B, IL1RAPL2
38h2o2448.9CASP1, IL1RAPL2, PLCG2, IL1R1
39cuprophan448.8CASP1, IL1R1, IL1RAPL2, IL1B
40pentoxifylline44 119.8IL1B, CASP1, IL1RAPL2, IL1R1
41aspirin44 50 28 2411.8IL1R1, IL1RAPL2, IL1B, CASP1
42ribonucleic acid448.8IL1R1, IL1B, CASP1, IL1RAPL2
43actinomycin d448.7IL1R1, IL1B, IL1RAPL2, CASP1
44pge2448.7IL1R1, IL1RAPL2, IL1B, CASP1
45cycloheximide448.6CASP1, IL1B, IL1R1, IL1RAPL2
46estrogen448.6NLRP12, SAA1, IL1R1, IL1RAPL2, CASP1
47anakinra44 119.5IL1B, IL1RAPL2, IL1R1, NLRP3, CASP1
48nitric oxide44 24 1110.4IL1B, PLCG2, CASP1, IL1RAPL2, IL1R1
49dexamethasone44 50 28 1111.4SAA1, IL1B, IL1RAPL2, IL1R1, CASP1
50endotoxin448.0IL1R1, IL1RAPL2, IL1B, CASP1, SAA1, MEFV

GO Terms for genes affiliated with Familial Cold Autoinflammatory Syndrome

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

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet