FCU
MCID: FML052
MIFTS: 58

Familial Cold Autoinflammatory Syndrome (FCU) malady

Bone diseases, Skin diseases, Immune diseases, Blood diseases, Genetic diseases categories

Summaries for Familial Cold Autoinflammatory Syndrome

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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: Familial Cold Autoinflammatory Syndrome, also known as familial cold urticaria, is related to urticaria and amyloidosis, and has symptoms including dehydration/hydroelectrolytic loss, thirst and autosomal dominant inheritance. 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 [arg8]-vasopressin have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, 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:63 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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42NIH Rare Diseases, 21Genetics Home Reference, 48Orphanet, 22GTR, 60UMLS, 44Novoseek, 46OMIM, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
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 42 21 48
familial cold urticaria 42 22 21 48 60
fcas 42 21 48
cold hypersensitivity 21 44
fcu 21 48
cold-induced autoinflammatory syndrome, familial 46
familial cold-induced autoinflammatory syndrome 21
familial polymorphous cold eruption 42
fcas1 48


External Ids:

OMIM46 120100
ICD10 via Orphanet26 L50.2
SNOMED-CT via Orphanet57 238687000
UMLS via Orphanet61 C0343068

Related Diseases for Familial Cold Autoinflammatory Syndrome

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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 83)
idRelated DiseaseScoreTop Affiliating Genes
1urticaria30.4CASP1, NLRP3, IL1RAPL2
2amyloidosis30.3SAA1, MEFV, IL1RAPL2
3myositis30.0CASP1, IL1RAPL2
4familial mediterranean fever30.0MEFV, NLRP3
5chronic infantile neurological cutaneous articular syndrome29.9IL1R1, NLRP3, CASP1, MEFV, IL1RAPL2, IL1B
6muckle-wells syndrome29.9NLRP3, IL1B, IL1RAPL2, IL1R1, MEFV, CASP1
7familial cold autoinflammatory syndrome 210.6
8familial cold autoinflammatory syndrome 110.4
9familial cold autoinflammatory syndrome 310.4
10cryopyrin-associated periodic syndrome10.3
11mononeuropathy10.0
12inclusion body myositis10.0
13hyperimmunoglobulin syndrome10.0
14dermatitis10.0NLRP3
15insulin resistance10.0SAA1
16schnitzler syndrome10.0IL1R1
17polymyalgia rheumatica10.0IL1RAPL2
18sjogren's syndrome10.0IL1RAPL2
19palindromic rheumatism10.0MEFV
20hepatitis10.0IL1RAPL2
21insulinoma10.0CASP1
22myeloid leukemia10.0CASP1
23hypertension10.0AVP
24prostate cancer10.0IL1R1
25ischemia10.0CASP1
26myelodysplastic syndromes10.0CASP1
27glioblastoma multiforme10.0CASP1
28aseptic meningitis10.0IL1R1, NLRP3
29pyoderma gangrenosum10.0MEFV, NLRP3
30inflammatory bowel disease10.0IL1B
31mastitis10.0IL1B
32pulmonary fibrosis10.0IL1B
33acute myocardial infarction10.0SAA1, MEFV
34pericarditis10.0MEFV
35vascular disease10.0IL1B
36asthma10.0IL1B
37gingivitis10.0IL1B
38amyloidosis, renal10.0MEFV, SAA1
39eye disease10.0IL1B
40amyloidosis, secondary10.0MEFV, SAA1
41adult-onset still's disease10.0IL1RAPL2, IL1R1
42periodontitis10.0IL1B
43osteosarcoma10.0CASP1
44vasculitis10.0IL1RAPL2, MEFV
45gout10.0IL1B, NLRP3
46interstitial lung disease10.0IL1RAPL2, IL1R1
47juvenile rheumatoid arthritis10.0IL1R1, IL1RAPL2
48bacterial vaginosis10.0IL1B, IL1R1
49ankylosing spondylitis10.0IL1R1, IL1RAPL2
50meningitis10.0IL1B, AVP

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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

120100

Clinical synopsis from OMIM:

120100

Symptoms:

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

Drugs & Therapeutics for Familial Cold Autoinflammatory Syndrome

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

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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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32MalaCards
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MalaCards organs/tissues related to Familial Cold Autoinflammatory Syndrome:

32
Skin, Bone

Animal Models for Familial Cold Autoinflammatory Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Familial Cold Autoinflammatory Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.3IL1B, IL1R1, CASP1, NLRP12
2MP:00053877.1NLRP12, NLRP3, CASP1, MEFV, IL1R1, IL1B
3MP:00053766.5AVP, NLRP12, NLRP3, CASP1, SAA1, MEFV

Publications for Familial Cold Autoinflammatory Syndrome

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Genetic Variations for Familial Cold Autoinflammatory Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Familial Cold Autoinflammatory Syndrome:

62
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

Expression for genes affiliated with Familial Cold Autoinflammatory Syndrome

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1BioGPS, 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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51QIAGEN, 37NCBI BioSystems Database, 53Reactome, 29KEGG, 52R&D Systems
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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
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9.0NLRP3, CASP1, MEFV
68.7NLRP3, CASP1, IL1B
7
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8.6IL1B, IL1R1, CASP1
8
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8.6IL1B, IL1R1, CASP1
9
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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

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Sources:
44Novoseek, 59Tocris Bioscience, 28IUPHAR, 2BitterDB, 11DrugBank, 24HMDB, 49PharmGKB
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Compounds related to Familial Cold Autoinflammatory Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 75)
idCompoundScoreTop Affiliating Genes
1cycloheximide4410.1IL1RAPL2
2[arg8]-vasopressin5910.1AVP, NLRP3
3d[leu4,lys8]-vp5910.1NLRP3, AVP
4(d(ch2)51,tyr(me)2,arg8)-vasopressin5910.0NLRP3, AVP
5sr 4905959 2811.0AVP, NLRP3
6acetyl-tyr-val-ala-asp-cho449.5CASP1, IL1B
74-ipp599.4IL1B, IL1R1
8endotoxin449.4CASP1, MEFV, SAA1
9mevalonate449.4MEFV, CASP1, NLRP3
10colchicine59 44 2 28 1113.4SAA1, IL1RAPL2, MEFV
11git 27599.4IL1R1, IL1B
12tenidap44 2810.3IL1B, IL1R1, SAA1
13gold sodium thiomalate449.3IL1R1, IL1B
14tlck449.3CASP1, IL1B
15uric acid44 2410.3AVP, CASP1, IL1R1
16muramyl dipeptide44 2810.3IL1B, CASP1
17ag-126449.3CASP1, IL1B
18pirfenidone44 5910.2IL1R1, IL1B
19piroxicam44 1110.2IL1B, SAA1
20monosodium urate449.2IL1B, IL1R1, IL1RAPL2
21polysulfone449.2IL1R1, IL1B, IL1RAPL2
22leflunomide49 44 1111.2IL1B, IL1RAPL2, IL1R1
23sulfasalazine44 28 49 1112.1IL1RAPL2, IL1R1, IL1B
24etanercept44 49 1111.1IL1RAPL2, IL1B, IL1R1
25naproxen44 11 2411.1IL1RAPL2, IL1B
26il 10449.1IL1R1, IL1B, IL1RAPL2
27infliximab44 49 1111.1IL1B, IL1RAPL2, IL1R1
28ivig449.1IL1R1, IL1RAPL2, IL1B
29neopterin449.1IL1RAPL2, IL1B, IL1R1
30creatinine449.1CASP1, AVP, IL1RAPL2
31as 10159 4410.1IL1B, IL1R1, CASP1
32corticosterone44 59 2411.0IL1B, IL1R1, IL1RAPL2
33diphenyleneiodonium449.0CASP1, IL1R1, IL1B
34leukotriene b444 59 2411.0IL1B, IL1R1, IL1RAPL2
35peptidoglycan44 2810.0IL1R1, IL1B, CASP1
36methotrexate44 49 1110.8IL1B, IL1RAPL2, IL1R1, NLRP3
37acth448.7IL1R1, AVP, IL1RAPL2, IL1B
38cuprophan448.5IL1R1, CASP1, IL1RAPL2, IL1B
39pentoxifylline44 119.5IL1B, IL1RAPL2, IL1R1, CASP1
40aspirin44 49 28 2411.5CASP1, IL1RAPL2, IL1B, IL1R1
41threonine448.5CASP1, AVP, IL1RAPL2, IL1R1, NLRP3
42ribonucleic acid448.5IL1B, CASP1, IL1R1, IL1RAPL2
43estrogen448.5IL1RAPL2, IL1R1, CASP1, SAA1, NLRP12
44glutamate448.5NLRP12, IL1RAPL2, AVP, CASP1, IL1R1
45prostaglandin448.4IL1RAPL2, IL1R1, IL1B
46actinomycin d448.4CASP1, IL1B, IL1R1, IL1RAPL2
47glucose448.3SAA1, CASP1, IL1RAPL2, AVP, IL1R1
48anakinra44 119.2NLRP3, IL1B, CASP1, IL1R1, IL1RAPL2
49nitric oxide44 11 2410.0CASP1, IL1RAPL2, AVP, IL1R1, IL1B
50dexamethasone44 49 28 1110.7AVP, IL1B, IL1RAPL2, IL1R1, SAA1, CASP1

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:0725599.2CASP1, 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

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  • Antibodies
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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet