MCID: FML052
MIFTS: 49

Familial Cold Autoinflammatory Syndrome malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Blood diseases, Immune diseases

Aliases & Classifications for Familial Cold Autoinflammatory Syndrome

About this section
Sources:
45NIH Rare Diseases, 23Genetics Home Reference, 51Orphanet, 65UMLS, 47Novoseek, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Familial Cold Autoinflammatory Syndrome:

Name: Familial Cold Autoinflammatory Syndrome 45 23 51
Familial Cold Urticaria 45 23 51 65
Cold Hypersensitivity 23 47 65
Fcas 45 23 51
 
Fcu 23 51
Familial Cold-Induced Autoinflammatory Syndrome 23
Familial Polymorphous Cold Eruption 45

Characteristics:

Orphanet epidemiological data:

51
familial cold urticaria:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Childhood,Infancy; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet51 47045
UMLS via Orphanet66 C0343068
UMLS65 C0343068, C3489856

Summaries for Familial Cold Autoinflammatory Syndrome

About this section
NIH Rare Diseases:45 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-induced inflammatory syndrome 1 and muckle-wells syndrome, 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 Pertussis and Salmonella infection (KEGG). Affiliated tissues include skin, bone and testes, and related mouse phenotypes are tumorigenesis and hematopoietic system.

Genetics Home Reference:23 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.

Related Diseases for Familial Cold Autoinflammatory Syndrome

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Diseases in the Familial Cold Autoinflammatory Syndrome family:

Familial Cold Autoinflammatory Syndrome 4 Familial Cold Autoinflammatory Syndrome 3
Familial Cold Autoinflammatory Syndrome 2

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

(show all 29)
idRelated DiseaseScoreTop Affiliating Genes
1familial cold-induced inflammatory syndrome 131.7IL1B, IL1R1, NLRP3
2muckle-wells syndrome29.1IL1B, IL1R1, NLRP3
3familial cold autoinflammatory syndrome 312.5
4familial cold autoinflammatory syndrome 212.5
5familial cold autoinflammatory syndrome 412.4
6nlrp12-associated hereditary periodic fever syndrome11.3
7cryptomicrotia brachydactyly syndrome10.2IL1R1, NLRP3
8intracranial embolism10.2IL1R1, NLRP3
9vallecula cancer10.1IL1R1, NLRP3
10cryopyrin-associated periodic syndrome10.1
11arthus reaction10.0NLRP3, PLCG2
12keratitis10.0
13amyloidosis10.0
14wells syndrome10.0
15tinea capitis9.9IL1B, NLRP3
16postauricular lymphadenitis9.9IL1B, NLRP3
17peripheral retinal degeneration9.8IL1B, NLRP3
18sarcoidosis, early-onset9.7IL1B, NLRP3
19glioblastoma multiforme9.7IL1B, IL1R1
20mixed mineral dust pneumoconiosis9.7IL1B, NLRP3
21ureteral disease9.7IL1B, IL1R1
22waardenburg syndrome type 49.5IL1B, IL1R1, NLRP3
23limited scleroderma9.4IL1B, IL1R1
24mononeuritis of lower limb9.4IL1B, NLRP3
25collagen vi related muscular dystrophy9.3IL1R1, IL1RAPL2, NLRP3, PLCG2
26wells-jankovic syndrome8.9IL1B, IL1R1, IL1RAPL2, NLRP3
27cinca syndrome8.9IL1B, IL1R1, IL1RAPL2, NLRP3
28rheumatoid arthritis8.8IL1B, IL1R1, IL1RAPL2, NLRP3
29familial colorectal cancer7.6IL1B, IL1R1, IL1RAPL2, NLRC4, NLRP12, NLRP3

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

About this section

Symptoms:

 51 (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

UMLS symptoms related to Familial Cold Autoinflammatory Syndrome:


nodular rash, mucocutaneous rash, erythema scarlatiniforme, welts, macular rash, exanthema

Drugs & Therapeutics for Familial Cold Autoinflammatory Syndrome

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Drugs for Familial Cold Autoinflammatory Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
CitalopramapprovedPhase 449459729-33-82771
Synonyms:
1,3-Dihydro-1-(3-(dimethylamino)propyl)-1-(4-fluorophenyl)-5-isobenzofurancarbonitrile
1,3-dihydro[3,4]benzofuran-5-carbonitrile
1-(3-(Dimethylamino)propyl)-1-(p-fluorophenyl)-5-phthalancarbonitrile
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-3H-2-benzofuran-5-carbonitrile
59729-33-8
AB00513896
AC-12214
AC1L1EFH
AE-641/00603021
Akarin
BPBio1_000929
BRD-A47598013-004-02-0
BSPBio_000843
Bonitrile
C07572
C20H21FN2O
CHEBI:3723
CHEMBL549
CID2771
CPD000465669
Celapram
Celexa
Celius
Ciazil
Cilift
Cipram
Cipramil
Ciprapine
Citabax
Citadur
Citadur (TN)
Citalec
Citalopram
Citalopram (USP/INN)
Citalopram Hydrobromide
Citalopram [Celexa]
Citalopram [INN:BAN]
Citalopram hydrobromide
Citalopramum
Citalopramum [INN-Latin]
 
Citol
Citopam
Citox
Citrol
Cytalopram
D07704
DB00215
Dalsan
EINECS 261-891-1
Elopram
HMS2090O09
HMS2093A14
Humorup
I01-0382
InChI=1/C20H21FN2O/c1-23(2)11-3-10-20(17-5-7-18(21)8-6-17)19-9-4-15(13-22)12-16(19)14-24-20/h4-9,12H,3,10-11,14H2,1-2H3
L001223
LS-84327
Lopac0_000258
Lu 10-171
Lu-10-171
MolPort-003-666-794
NCGC00015267-07
NCGC00025160-02
Nitalapram
Oropram
Perrigo Citalopram
Pramcit
Prestwick3_000692
Recital
SAM002589960
ST069372
STL058639
Seropram
Talam
Talohexal
Temperax
UNII-0DHU5B8D6V
Vodelax
Zentius
Zetalo
[3H]Citalopram
citalopram
2Ginsengapproved, nutraceuticalPhase 48750647-08-0
3
Vitamin Aapproved, nutraceuticalPhase 441311103-57-4, 68-26-8445354
Synonyms:
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraen-1-ol
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraen-1-ol
(2e,4e,6e,8e)-3,7-Dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraen-1-ol
(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
.alpha.lin
.alpha.sterol
.beta.-Retinol
11103-57-4
13123-33-6
1341-18-0
1406-67-3
17104-91-5
1rbp
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclchexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonate-traen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexenyl)-2,4,6,8-nonatetraen-1-ol
3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol, (all-E)-Isomer
4-06-00-04133 (Beilstein Handbook Reference)
53637-36-8
5979-23-7
68-26-8
95144_FLUKA
95144_SIGMA
95146_FLUKA
95146_SIGMA
A-Mulsal
A-Sol
A-Vi-Pel
A-Vitan
AC-11701
AC1L9HU3
AC1Q7BU9
ACON
ALL-TRANS RETINOL (SEE ALSO RETINOID PROJECT 1)
AR-1L3057
ATAV
Afaxin
Agiolan
Agoncal
Alcohol 9,13-dimethyl-7-(1,1,5-trimethyl-6-cyclohexen-5-yl)-7,9,11,13-nonatetraen-15-ol
Alcovit A
All Trans Retinol
All-trans retinol
All-trans-Retinol
Alphalin
Alphasterol
Anatola
Anatola A
Anti-infective vitamin
Antixerophthalmic vitamin
Antixerophthalmisches Vitamin
Aoral
Apexol
Apostavit
Aquasol A
Aquasol A Parenteral
Aquasynth
Atars
Avibon
Avita
Avitol
Axerol
Axerophthol
Axerophtholum
BIDD:PXR0102
BRN 0403040
Bentavit A
Biosterol
C00473
C17276
C20H30O
CCRIS 5444
CHEBI:17336
CHEMBL986
CID445354
Chocola A
Chocola a
Cylasphere
D014801
D06543
DB00162
Del-VI-A
Disatabs Tabs
Dofsol
Dohyfral A
EINECS 200-683-7
EINECS 234-328-2
Epiteliol
HMS1921B04
HMS2092L13
HMS501I08
HSDB 815
Hi-A-Vita
Homagenets Aoral
Homagenets aorl
Hydrovit A
IDI1_000486
LMPR01090001
LPK
LS-1578
Lard Factor
M.V.C. 9+3
M.V.I.-12
 
MLS001066379
MLS001074751
MolPort-001-785-962
Mvc Plus
Myvpack
NCGC00091784-01
NCGC00091784-02
NCGC00091784-03
NCGC00091784-04
NCGC00091784-05
NCGC00091784-06
NSC 122759
NSC122759
Nio-A-Let
Oleovitamin A
Ophthalamin
Plivit A
Prepalin
R7632_SIGMA
Retin-11,12-t2-ol (9CI)
Retinol
Retinol [INN:BAN]
Retinol solution
Retinol, all-trans- (8CI)
Retinol-(cellular-retinol-binding-protein)
Retinolo
Retinolo [DCIT]
Retinolum
Retinolum [INN-Latin]
Retrovitamin A
Ro-a-vit
Rovimix A 500
SDCCGMLS-0066724.P001
SMP2_000102
SMR000112036
SPECTRUM1501203
ST057232
Sehkraft A
Solu-A
Spectrum5_000993
Spectrum5_001997
Super A
Testavol
Testavol S
Thalasphere
UNII-81G40H8B0T
UNII-G2SH0XKK91
Vaflol
Vafol
Veroftal
Vi-.alpha.
Vi-Alpha
Vi-Dom-A
Vi-a
Vio-A
Vitamin A
Vitamin A (Feed)
Vitamin A (USP)
Vitamin A alcohol
Vitamin A alcohol (VAN)
Vitamin A cryst
Vitamin A palmitate
Vitamin A1
Vitamin A1 alcohol
Vitamin A1 alcohol, all trans
Vitamin a
Vitamin- A
Vitamin- A alcohol
Vitamin- A alcohol solution
Vitamin- A1
Vitamin-?A
Vitamin-?A alcohol
Vitamin-?A alcohol solution
Vitamin-?A1
Vitamine A
Vitaminum A
Vitavel A
Vitavel-A
Vitpex
Vogan
Vogan-Neu
Vogan-nu
WLN: L6UTJ A1 B1U1Y1&U2U1Y1&U2Q C1 C1
Wachstumsvitamin
ZINC03831417
Zinosan N
[11,12-3H]-Retinol
alin
all-trans-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
all-trans-Retinol
all-trans-Retinyl alcohol
all-trans-Vitamin A
all-trans-Vitamin A alcohol
all-trans-Vitamin A1
all-trans-retinol
all-trans-retinyl alcohol
all-trans-vitamin A alcohol
b-Retinol
beta-Retinol
retinol
tROL
trans-Retinol
trans-Retinol acid (Vitamin A)
trans-Vitamin A alcohol
trans-retinol
4Duloxetine HydrochloridePhase 4258
5Antidepressive AgentsPhase 42367
6Retinol palmitatePhase 4413
7Omega 3 Fatty AcidNutraceuticalPhase 4912
8retinolNutraceuticalPhase 4413
9Immunologic FactorsPhase 3, Phase 2, Phase 118483
10VaccinesPhase 3, Phase 1, Phase 26085
11ImmunoglobulinsPhase 34477
12Antibodies, MonoclonalPhase 32413
13AntibodiesPhase 34477
14
PancrelipaseapprovedPhase 1, Phase 288053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
15pancreatinPhase 1, Phase 2880
16Freund's AdjuvantPhase 293
17Adjuvants, ImmunologicPhase 21783
18ColaNutraceuticalPhase 21768
19
MetronidazoleapprovedPhase 1418443-48-14173
Synonyms:
1-(2-hydroxy-1-ethyl)-2-methyl-5-nitroimidazole
1-(2-hydroxyethyl)-2-methyl-5-nitroimidazole
1-(beta-Ethylol)-2-methyl-5-nitro-3-azapyrrole
1-(beta-Hydroxyethyl)-2-methyl-5-nitroimidazole
1-(beta-Oxyethyl)-2-methyl-5-nitroimidazole
1-(β-ethylol)-2-methyl-5-nitro-3-azapyrrole
1-(β-hydroxyethyl)-2-methyl-5-nitroimidazole
1-(β-oxyethyl)-2-methyl-5-nitroimidazole
1-Hydroxyethyl-2-methyl-5-nitroimidazole
2-(2-methyl-5-nitroimidazol-1-yl)ethanol
2-Methyl-5-nitro-1-imidazoleethanol
2-Methyl-5-nitroimidazole-1-ethanol
2-methyl-1-(2-hydroxyethyl)-5-nitroimidazole
2-methyl-3-(2-hydroxyethyl)-4-nitroimidazole
2-methyl-5-nitroimidazole-1-ethanol
443-48-1
46461_FLUKA
46461_RIEDEL
69198-10-3 (mono-hydrochloride)
99616-64-5
AB00052046
AC-10556
AC1L1HKS
AC1Q2P2Z
AKOS000269646
APMN
ARONIS24285
Acromona
Anagiardil
Apo-Metronidazole
Arilin
Atrivyl
BAS 02983617
BAY-5360
BCBcMAP01_000184
BIDD:GT0107
BPBio1_000004
BRD-K52020312-001-05-2
BRN 0611683
BSPBio_000002
BSPBio_002031
Bayer 5360
Bexon
Bio-0694
CAS-443-48-1
CB-01-14 MMX
CCRIS 410
CHEBI:39845
CHEBI:6909
CHEMBL137
CID4173
CONT
CPD000058175
Caswell No. 579AA
Clont
D00409
DB00916
Danizol
Deflamon
Deflamon-wirkstoff
DivK1c_000007
EINECS 207-136-1
EPA Pesticide Chemical Code 120401
Efloran
Elyzol
Entizol
Eumin
FLAGYL I.V. RTU IN PLASTIC CONTAINER
Flagemona
Flagesol
Flagil
Flagyl
Flagyl (TN)
Flagyl 375
Flagyl Er
Flagyl I.V.
Flagyl I.V. RTU
Flegyl
Florazole
Fossyol
Giatricol
Ginefla vir
Gineflavir
HMS1568A04
HMS1920N19
HMS2051G07
HMS2090B19
HMS2091F14
HMS500A09
HMS547C19
HSDB 3129
I14-0667
IDI1_000007
IDR-90105
KBio1_000007
KBio2_001515
KBio2_004083
KBio2_006651
KBio3_001531
KBioGR_000559
KBioSS_001515
Klion
Klont
LS-1264
M0924
M1547_SIGMA
M3761_FLUKA
M3761_SIGMA
M9036_SIGMA
METRO I.V
METRONIDAZOLE USP
MLS000028590
MLS000758286
Maybridge1_001999
Meronidal
Methronidazole
Methyl-5-nitroimidazole-1-ethanol
Metric
Metric 21
Metro Cream
Metro Gel
 
Metro I.V.
Metro I.V. In Plastic Container
MetroCream
MetroGel
MetroGel-Vaginal
MetroLotion
Metrocream
Metrodzhil
Metrogel
Metrogel-vaginal
Metrogel-vaginal (TN)
Metrogyl
Metrolag
Metrolotion
Metrolyl
Metromidol
Metronidaz
Metronidazol
Metronidazol [INN-Spanish]
Metronidazole
Metronidazole (JP15/USP/INN)
Metronidazole Benzoate
Metronidazole Monohydrochloride
Metronidazole Phosphoester
Metronidazole Topical Gel
Metronidazole [USAN:INN:BAN:JAN]
Metronidazole hydrochloride
Metronidazole in Plastic Container
Metronidazolo
Metronidazolo [DCIT]
Metronidazolum
Metronidazolum [INN-Latin]
Metrotop
Metrozine
Metryl
Mexibol
Mexibol 'silanes'
MolPort-000-141-892
MolPort-002-502-101
Monagyl
Monasin
NCGC00016446-01
NCGC00016446-02
NCGC00022059-03
NCGC00022059-04
NCGC00022059-05
NCIOpen2_000337
NIDA
NINDS_000007
NSC 50364
NSC 69587
NSC-50364
NSC50364
NSC69587
Nalox
Nidagel
Noritate
Noritate (TN)
Novonidazol
Orvagil
Prestwick0_000081
Prestwick1_000081
Prestwick2_000081
Prestwick3_000081
Prestwick_334
Protostat
RP 8823
RP-8823
Rathimed
Rosadan
Rosased
S1907_Selleck
SAM001247010
SBB041018
SC 10295
SMP1_000189
SMR000058175
SPBio_000666
SPBio_001941
SPECTRUM1500412
STK177359
Sanatrichom
Satric
Spectrum2_000883
Spectrum3_000506
Spectrum4_000060
Spectrum5_001289
Spectrum_001035
Takimetol
Trichazol
Trichex
Tricho cordes
Tricho-gynaedron
Trichocide
Trichomol
Trichomonacid 'pharmachim'
Trichopal
Trichopol
Tricocet
Tricom
Tricowas B
Trikacide
Trikamon
Trikojol
Trikozol
Trimeks
Trivazol
UNII-140QMO216E
Vagilen
Vagimid
Vandazole
Vertisal
WLN: T5N CNJ A2Q B1 ENW
WLN: T5N CNJA2Q B1 ENW
WLN: T6NTJ DQ ANU1- ET5N CNJ A1 BNW
Wagitran
ZERO/004064
ZINC00113442
Zadstat
Zidoval
giniflavir
metronidazole
neo-Tric
20Antiprotozoal AgentsPhase 11730
21Antiparasitic AgentsPhase 11854
22Anti-Infective AgentsPhase 117220

Interventional clinical trials:

(show all 29)
idNameStatusNCT IDPhase
1Effect of Korean Red Ginseng on Women With Cold Hypersensitivity of Hands and FeetCompletedNCT01664156Phase 4
2Assessing the Effects of Omega-3 Supplementation on Some Serum BDNF، Follistatin، Irisin Levels in Men With CADCompletedNCT02382471Phase 4
3Assessing the Effects of Omega-3 Supplementation on Serum HSP27, HSP70, YKL40, BMP-4 Levels in Male Patient With CADCompletedNCT02117960Phase 4
4Effect of Omega-3 Supplementation on Serum Level and Gene Expression of IGF-1and IGFBP-3 in Men With CVD.CompletedNCT02092584Phase 4
5Efficacy and Safety of Danggui-Sayuk-Ga-Osuyu-Saenggang-tang on Korean Patients With Cold Hypersensitivity in the Hands and FeetRecruitingNCT02645916Phase 4
6Trial for Antidepressant Treatment for Negative Symptom of Schizophrenia With NRG1 Risk GenotypeActive, not recruitingNCT01078870Phase 4
7The Impact of Omega-3 Supplementation on Gene Expression in Type 2 DiabeticsEnrolling by invitationNCT01478776Phase 4
8The Effect of n-3 Fatty Acid Supplementation on Serum Levels, and Gene Expression of type2 Diabetes PatientEnrolling by invitationNCT02261545Phase 4
9Efficacy and Safety of ACZ885 in Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory DiseaseCompletedNCT00685373Phase 3
10Efficacy and Safety Study of Canakinumab Administered for 6 Months (24 Weeks) in Japanese Patients With Cryopyrin-associated Periodic Syndromes Followed by an Extension PhaseCompletedNCT00991146Phase 3
11Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory DiseaseCompletedNCT01302860Phase 3
12Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory DiseaseCompletedNCT01576367Phase 3
13Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS)CompletedNCT00288704Phase 3
14The Safety and Efficacy of Canakinumab in Patients Aged 4 Years or Older Diagnosed With Cryopyrin-associated Periodic Syndromes (CAPS) in CanadaCompletedNCT01105507Phase 3
15Study of CAP1-6D in Patients With Locally Advanced or Surgically Resected Pancreatic AdenocarcinomaCompletedNCT00203892Phase 1, Phase 2
16Interleukin-1 Trap to Treat Autoinflammatory DiseasesCompletedNCT00094900Phase 2
17Vaccine Therapy in Treating Patients With Cancer of the Gastrointestinal TractTerminatedNCT00012246Phase 2
18A Pilot Study of XOMA 052 in Familial Cold Autoinflammatory Syndrome / Muckle-Wells Syndrome and Behcet's DiseaseWithdrawnNCT01211977Phase 1, Phase 2
19The Use of Kineret (Anakinra) in the Treatment of Familial Cold UrticariaCompletedNCT00214851Phase 1
20Vaccine Therapy in Treating Patients With Refractory Stage IV CancerCompletedNCT00057915Phase 1
21Vaccine Therapy With or Without Sargramostim in Treating Patients With CancerTerminatedNCT00009958Phase 1
22Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) PatientsCompletedNCT01213641
23Power of Testing in Directed Self-regulated Flexible Cystoscopy Simulation TrainingCompletedNCT02411747
24Efficacy of Yoga for Treatment-Resistant Posttraumatic Stress DisorderRecruitingNCT00839813
25Pathogenesis of Physical Induced Urticarial SyndromesRecruitingNCT00887939
26Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic FactorsRecruitingNCT00933296
27Cap Assisted Balloon Enteroscopy Versus Conventional Balloon Enteroscopy In The Evaluation Of Obscure Gastrointestinal Bleeding: A Randomized Controlled TrialRecruitingNCT02315404
28The CAP-1 Trial: Stepwise Excavation Versus One Completed Excavation in Deep CariesActive, not recruitingNCT00187837
29The CAP-2 Trial: Effect of Direct Pulp Capping Versus Partial PulpotomyActive, not recruitingNCT00187850

Search NIH Clinical Center for Familial Cold Autoinflammatory Syndrome

Genetic Tests for Familial Cold Autoinflammatory Syndrome

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Anatomical Context for Familial Cold Autoinflammatory Syndrome

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MalaCards organs/tissues related to Familial Cold Autoinflammatory Syndrome:

33
Skin, Bone, Testes, B cells, Breast, Prostate, Endothelial

Animal Models for Familial Cold Autoinflammatory Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Familial Cold Autoinflammatory Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.3IL1B, IL1R1, NLRP12, PLCG2
2MP:00053977.3IL1B, IL1R1, NLRC4, NLRP12, NLRP3, PLCG2
3MP:00053877.0IL1B, IL1R1, NLRC4, NLRP12, NLRP3, PLCG2

Publications for Familial Cold Autoinflammatory Syndrome

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Articles related to Familial Cold Autoinflammatory Syndrome:

(show all 23)
idTitleAuthorsYear
1
An unusual urticarial eruption: Familial cold autoinflammatory syndrome. (26115477)
2015
2
Withdrawn: An unusual urticarial eruption: familial cold autoinflammatory syndrome. (25988551)
2015
3
First report of keratitis in familial cold autoinflammatory syndrome. (24862780)
2014
4
"Mutation negative" familial cold autoinflammatory syndrome (FCAS) in an 8-year-old boy: clinical course and functional studies. (21833523)
2012
5
Interleukin-17 expression in the urticarial rash of familial cold autoinflammatory syndrome: a case report. (20716212)
2010
6
Fever from the cold--familial cold autoinflammatory syndrome]. (19385344)
2009
7
New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes. (18174231)
2008
8
Use of anakinra (Kineret) in the treatment of familial cold autoinflammatory syndrome with a 16-month follow-up. (18258152)
2008
9
Two pathogenic CIAS1 mutations and plasma cytokine profile in a Finnish patient with familial cold autoinflammatory syndrome responsive to anakinra. (18189199)
2008
10
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
11
A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome. (17333269)
2008
12
Successful treatment of renal amyloidosis due to familial cold autoinflammatory syndrome using an interleukin 1 receptor antagonist. (17336710)
2007
13
Response to IL-1-receptor antagonist in a child with familial cold autoinflammatory syndrome. (17300660)
2007
14
Monocytes from familial cold autoinflammatory syndrome patients are activated by mild hypothermia. (17320940)
2007
15
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
16
Anakinra prevents symptoms of familial cold autoinflammatory syndrome and Raynaud's disease. (16981288)
2006
17
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
18
Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. (15541451)
2004
19
A case of familial cold autoinflammatory syndrome confirmed by the presence of a CIAS1 mutation. (15149524)
2004
20
A large kindred with familial cold autoinflammatory syndrome. (12602672)
2003
21
Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. (11590390)
2001
22
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. (11687797)
2001
23

Variations for Familial Cold Autoinflammatory Syndrome

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Expression for genes affiliated with Familial Cold Autoinflammatory Syndrome

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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 Suite gene sharing:

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
19.5IL1B, NLRP3
2
Show member pathways
9.3IL1B, NLRC4
39.3IL1B, NLRC4
49.0IL1B, IL1R1
5
Show member pathways
9.0IL1B, IL1R1
69.0IL1B, IL1R1
7
Show member pathways
9.0IL1B, IL1R1
8
Show member pathways
8.6IL1B, IL1R1, PLCG2
98.6IL1B, IL1R1, PLCG2
108.6IL1B, IL1R1, PLCG2
11
Show member pathways
8.5IL1B, NLRC4, NLRP12, NLRP3
12
Show member pathways
7.3IL1B, IL1R1, NLRC4, NLRP12, NLRP3, PLCG2

GO Terms for genes affiliated with Familial Cold Autoinflammatory Syndrome

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Biological processes related to Familial Cold Autoinflammatory Syndrome according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of interleukin-1 beta secretionGO:005071810.2NLRP12, NLRP3
2negative regulation of inflammatory responseGO:005072810.1NLRP12, NLRP3
3regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:004328110.1NLRC4, NLRP12
4interleukin-1 beta productionGO:003261110.1IL1B, NLRP3
5nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:003587210.0NLRC4, NLRP3
6regulation of I-kappaB kinase/NF-kappaB signalingGO:00431229.9IL1B, NLRP12
7ovulationGO:00307289.5IL1B, IL1R1
8negative regulation of NF-kappaB transcription factor activityGO:00320889.4NLRP12, NLRP3
9cellular response to glucose stimulusGO:00713339.3IL1B, IL1R1
10positive regulation of NF-kappaB transcription factor activityGO:00510929.1IL1B, NLRC4, NLRP3
11signal transductionGO:00071658.4IL1R1, NLRP12, NLRP3, PLCG2

Sources for Familial Cold Autoinflammatory Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet