FCU
MCID: FML052
MIFTS: 53

Familial Cold Autoinflammatory Syndrome (FCU) malady

Bone, Skin, Immune, Blood, Genetic categories

Summaries for Familial Cold Autoinflammatory Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 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 muckle-wells syndrome and amyloidosis, renal, 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 4-1BB Pathway and Monoamine Transport. The compounds cycloheximide and d[leu4,lys8]-vp have been mentioned in the context of this disorder. Affiliated tissues include skin and monocytes, and related mouse phenotypes are tumorigenesis and immune system.

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:64 Familial cold urticaria (also properly known as familial cold autoinflammatory syndrome, FCAS) is an... more...

Description from OMIM:47 120100

Aliases & Classifications for Familial Cold Autoinflammatory Syndrome

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 49Orphanet, 22GTR, 61UMLS, 45Novoseek, 47OMIM, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Bone, Skin, Immune, Blood


Characteristics (Orphanet epidemiological data):

49
familial cold urticaria:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

familial cold autoinflammatory syndrome 43 21 49
familial cold urticaria 43 22 21 49 61
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 Orphanet58 238687000
UMLS via Orphanet62 C0343068

Related Diseases for Familial Cold Autoinflammatory Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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 86)
idRelated DiseaseScoreTop Affiliating Genes
1muckle-wells syndrome30.7IL1B, IL1RAPL2, IL1R1, MEFV, CASP1, NLRP3
2amyloidosis, renal30.4MEFV, SAA1
3amyloidosis30.4SAA1, MEFV, IL1RAPL2
4urticaria30.4NLRP3, CASP1, IL1RAPL2
5familial mediterranean fever30.0MEFV, NLRP3
6chronic infantile neurological cutaneous articular syndrome30.0NLRP3, CASP1, MEFV, IL1R1, IL1B, IL1RAPL2
7familial cold autoinflammatory syndrome 210.7
8wells syndrome10.4
9familial cold autoinflammatory syndrome 110.4
10familial cold autoinflammatory syndrome 310.4
11raynaud disease10.3
12n syndrome10.3
13cryopyrin-associated periodic syndrome10.3
14periodic fever, familial, autosomal dominant10.3
15periodic fever, familial10.3
16inclusion body myositis10.0
17dermatitis10.0NLRP3
18insulin resistance10.0SAA1
19schnitzler syndrome10.0IL1R1
20polymyalgia rheumatica10.0IL1RAPL2
21sjogren's syndrome10.0IL1RAPL2
22palindromic rheumatism10.0MEFV
23hepatitis10.0IL1RAPL2
24insulinoma10.0CASP1
25myeloid leukemia10.0CASP1
26hypertension10.0AVP
27prostate cancer10.0IL1R1
28ischemia10.0CASP1
29myelodysplastic syndromes10.0CASP1
30glioblastoma multiforme10.0CASP1
31aseptic meningitis10.0IL1R1, NLRP3
32pyoderma gangrenosum10.0MEFV, NLRP3
33inflammatory bowel disease10.0IL1B
34mastitis10.0IL1B
35pulmonary fibrosis10.0IL1B
36acute myocardial infarction10.0MEFV, SAA1
37pericarditis10.0MEFV
38vascular disease10.0IL1B
39asthma10.0IL1B
40gingivitis10.0IL1B
41eye disease10.0IL1B
42amyloidosis, secondary10.0MEFV, SAA1
43adult-onset still's disease10.0IL1RAPL2, IL1R1
44periodontitis10.0IL1B
45osteosarcoma10.0CASP1
46vasculitis10.0MEFV, IL1RAPL2
47gout10.0IL1B, NLRP3
48interstitial lung disease10.0IL1RAPL2, IL1R1
49juvenile rheumatoid arthritis10.0IL1R1, IL1RAPL2
50bacterial vaginosis10.0IL1R1, IL1B

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



Diseases related to familial cold autoinflammatory syndrome

Clinical Features for Familial Cold Autoinflammatory Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

120100

Clinical synopsis from OMIM:

120100

Symptoms:

49 (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

Drugs & Therapeutics for Familial Cold Autoinflammatory Syndrome

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

Approved drugs:

Search CenterWatch for Familial Cold Autoinflammatory Syndrome

Drug clinical trials:

Search ClinicalTrials for Familial Cold Autoinflammatory Syndrome

Search NIH Clinical Center for Familial Cold Autoinflammatory Syndrome

Search CenterWatch for Familial Cold Autoinflammatory Syndrome

Genetic Tests for Familial Cold Autoinflammatory Syndrome

Sources:
22GTR
See all sources

Genetic tests related to Familial Cold Autoinflammatory Syndrome:

id Genetic test Affiliating Genes
1 Familial Cold Urticaria22

Anatomical Context for Familial Cold Autoinflammatory Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Familial Cold Autoinflammatory Syndrome:

33
Skin, Monocytes

Animal Models for Familial Cold Autoinflammatory Syndrome or affiliated genes

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

MGI Mouse Phenotypes related to Familial Cold Autoinflammatory Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.3IL1B, IL1R1, CASP1, NLRP12
2MP:00053877.1IL1B, NLRP12, NLRP3, CASP1, MEFV, IL1R1
3MP:00053766.5MEFV, NLRP12, NLRP3, CASP1, SAA1, AVP

Publications for Familial Cold Autoinflammatory Syndrome

Sources:
51PubMed
See all sources

Articles related to Familial Cold Autoinflammatory Syndrome:

(show all 19)
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
Fever from the cold--familial cold autoinflammatory syndrome]. (19385344)
2009
4
New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes. (18174231)
2008
5
Use of anakinra (Kineret) in the treatment of familial cold autoinflammatory syndrome with a 16-month follow-up. (18258152)
2008
6
Two pathogenic CIAS1 mutations and plasma cytokine profile in a Finnish patient with familial cold autoinflammatory syndrome responsive to anakinra. (18189199)
2008
7
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
8
A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome. (17333269)
2008
9
Successful treatment of renal amyloidosis due to familial cold autoinflammatory syndrome using an interleukin 1 receptor antagonist. (17336710)
2007
10
Response to IL-1-receptor antagonist in a child with familial cold autoinflammatory syndrome. (17300660)
2007
11
Monocytes from familial cold autoinflammatory syndrome patients are activated by mild hypothermia. (17320940)
2007
12
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
13
Anakinra prevents symptoms of familial cold autoinflammatory syndrome and Raynaud's disease. (16981288)
2006
14
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
15
Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. (15541451)
2004
16
A case of familial cold autoinflammatory syndrome confirmed by the presence of a CIAS1 mutation. (15149524)
2004
17
A large kindred with familial cold autoinflammatory syndrome. (12602672)
2003
18
Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. (11590390)
2001
19
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. (11687797)
2001

Genetic Variations for Familial Cold Autoinflammatory Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Familial Cold Autoinflammatory Syndrome:

63
id Symbol AA change Variation 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

Expression for genes affiliated with Familial Cold Autoinflammatory Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
52QIAGEN, 38NCBI BioSystems Database, 54Reactome, 30KEGG, 53R&D Systems
See all sources

Pathways related to Familial Cold Autoinflammatory Syndrome according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.2IL1B, IL1R1
29.2IL1B, IL1R1
39.0IL1B, CASP1
49.0CASP1, IL1B
5
Hide members
9.0NLRP3, CASP1, MEFV
68.7NLRP3, CASP1, IL1B
7
Hide members
8.6IL1B, IL1R1, CASP1
8
Hide members
8.6IL1B, IL1R1, CASP1
9
Hide members
8.6IL1B, IL1R1, CASP1
10
Hide members
8.6IL1B, IL1R1, CASP1
11
Hide members
8.6CASP1, IL1R1, IL1B
12
Hide members
8.6CASP1, IL1R1, IL1B
13
Hide members
8.0NLRP12, NLRP3, CASP1, IL1R1, IL1B
14
Hide members
7.8IL1B, MEFV, CASP1, NLRP3, NLRP12
15
Hide members
7.4NLRP3, CASP1, SAA1, MEFV, IL1R1, IL1B

Compounds for genes affiliated with Familial Cold Autoinflammatory Syndrome

Sources:
45Novoseek, 60Tocris Bioscience, 29IUPHAR, 2BitterDB, 11DrugBank, 24HMDB, 50PharmGKB
See all sources

Compounds related to Familial Cold Autoinflammatory Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 75)
idCompoundScoreTop Affiliating Genes
1cycloheximide4510.1IL1RAPL2
2d[leu4,lys8]-vp6010.1NLRP3, AVP
3(d(ch2)51,tyr(me)2,arg8)-vasopressin6010.1NLRP3, AVP
4[arg8]-vasopressin6010.0NLRP3, AVP
5sr 4905960 2911.0AVP, NLRP3
6acetyl-tyr-val-ala-asp-cho459.5CASP1, IL1B
74-ipp609.4IL1R1, IL1B
8endotoxin459.4CASP1, SAA1, MEFV
9mevalonate459.4MEFV, CASP1, NLRP3
10colchicine60 45 2 29 1113.4SAA1, MEFV, IL1RAPL2
11git 27609.4IL1R1, IL1B
12gold sodium thiomalate459.3IL1R1, IL1B
13tenidap45 2910.3SAA1, IL1R1, IL1B
14tlck459.3CASP1, IL1B
15uric acid45 2410.3AVP, IL1R1, CASP1
16muramyl dipeptide45 2910.3CASP1, IL1B
17ag-126459.3CASP1, IL1B
18pirfenidone45 6010.2IL1B, IL1R1
19piroxicam45 1110.2IL1B, SAA1
20monosodium urate459.2IL1R1, IL1RAPL2, IL1B
21polysulfone459.2IL1B, IL1RAPL2, IL1R1
22leflunomide50 45 1111.2IL1B, IL1RAPL2, IL1R1
23sulfasalazine45 29 50 1112.1IL1B, IL1RAPL2, IL1R1
24etanercept45 50 1111.1IL1B, IL1RAPL2, IL1R1
25naproxen45 11 2411.1IL1B, IL1RAPL2
26il 10459.1IL1R1, IL1RAPL2, IL1B
27infliximab45 50 1111.1IL1B, IL1RAPL2, IL1R1
28ivig459.1IL1R1, IL1RAPL2, IL1B
29neopterin459.1IL1B, IL1RAPL2, IL1R1
30creatinine459.1AVP, IL1RAPL2, CASP1
31as 10160 4510.1CASP1, IL1R1, IL1B
32corticosterone45 60 2411.0IL1R1, IL1RAPL2, IL1B
33diphenyleneiodonium459.0IL1B, IL1R1, CASP1
34leukotriene b445 60 2411.0IL1B, IL1RAPL2, IL1R1
35peptidoglycan45 2910.0IL1B, IL1R1, CASP1
36methotrexate45 50 1110.8NLRP3, IL1R1, IL1RAPL2, IL1B
37acth458.7IL1R1, IL1RAPL2, IL1B, AVP
38cuprophan458.5CASP1, IL1R1, IL1RAPL2, IL1B
39pentoxifylline45 119.5IL1B, IL1RAPL2, IL1R1, CASP1
40aspirin45 50 29 2411.5CASP1, IL1R1, IL1RAPL2, IL1B
41threonine458.5NLRP3, CASP1, IL1R1, IL1RAPL2, AVP
42ribonucleic acid458.5CASP1, IL1R1, IL1RAPL2, IL1B
43estrogen458.5NLRP12, CASP1, SAA1, IL1R1, IL1RAPL2
44glutamate458.5AVP, IL1RAPL2, IL1R1, CASP1, NLRP12
45prostaglandin458.4IL1R1, IL1RAPL2, IL1B
46actinomycin d458.4CASP1, IL1R1, IL1RAPL2, IL1B
47glucose458.3AVP, IL1RAPL2, IL1R1, SAA1, CASP1
48anakinra45 119.2IL1B, IL1RAPL2, IL1R1, CASP1, NLRP3
49nitric oxide45 11 2410.0CASP1, IL1R1, IL1RAPL2, IL1B, AVP
50dexamethasone45 50 29 1110.7CASP1, SAA1, IL1R1, IL1RAPL2, IL1B, AVP

GO Terms for genes affiliated with Familial Cold Autoinflammatory Syndrome

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1NLRP3 inflammasome complexGO:0725599.2CASP1, NLRP3
2extracellular regionGO:0055767.8AVP, IL1B, IL1R1, SAA1, CASP1

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of interleukin-1 beta secretionGO:0507189.4CASP1, NLRP3, NLRP12
2activation of cysteine-type endopeptidase activity involved in apoptotic processGO:0069199.3CASP1, NLRP3, NLRP12
3nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:0358729.2NLRP3, CASP1, MEFV
4interleukin-1 beta productionGO:0326119.2IL1B, CASP1
5negative regulation of inflammatory responseGO:0507289.2MEFV, SAA1, NLRP3, NLRP12
6response to ATPGO:0331989.1IL1B, CASP1
7cellular response to organic substanceGO:0713109.0IL1B, CASP1
8neutrophil chemotaxisGO:0305939.0IL1B, SAA1
9inflammatory responseGO:0069548.8IL1B, MEFV, NLRP3
10innate immune responseGO:0450878.5NLRP3, CASP1, SAA1, MEFV
11signal transductionGO:0071658.0NLRP12, NLRP3, CASP1, IL1B, AVP

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:0086569.5CASP1, NLRP12
2interleukin-1 receptor activityGO:0049089.2IL1RAPL2, IL1R1

Products for genes affiliated with Familial Cold Autoinflammatory Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Cold Autoinflammatory 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