MCID: FML052
MIFTS: 48

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

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Aliases & Descriptions for Familial Cold Autoinflammatory Syndrome:

Name: Familial Cold Autoinflammatory Syndrome 46 24 52 25
Familial Cold Urticaria 46 24 52 66
Fcas 46 24 52
Cold Hypersensitivity 24 66
 
Fcu 24 52
Familial Cold-Induced Autoinflammatory Syndrome 24
Familial Polymorphous Cold Eruption 46

Characteristics:

Orphanet epidemiological data:

52
familial cold autoinflammatory syndrome:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Childhood,Infancy; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet52 ORPHA47045
UMLS via Orphanet67 C0343068

Summaries for Familial Cold Autoinflammatory Syndrome

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NIH Rare Diseases:46 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 exanthema, macular rash and welts. An important gene associated with Familial Cold Autoinflammatory Syndrome is NLRC4 (NLR Family CARD Domain Containing 4), and among its related pathways are Monoamine Transport and Pertussis. Affiliated tissues include skin, bone and monocytes, and related mouse phenotypes are neoplasm and integument.

Genetics Home Reference:24 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 46)
idRelated DiseaseScoreTop Affiliating Genes
1familial cold-induced inflammatory syndrome 131.6CASP1, IL1B, IL1R1, NLRP3
2muckle-wells syndrome29.0CASP1, IL1B, IL1R1, NLRP3
3familial cold autoinflammatory syndrome 212.5
4familial cold autoinflammatory syndrome 312.5
5familial cold autoinflammatory syndrome 412.4
6suppurative lymphadenitis10.4IL1B, NLRP3
7carbon baby syndrome10.3IL1R1, NLRP3
8hyper-igd syndrome10.3CASP1, NLRP3
9meier-gorlin syndrome 310.3IL1B, NLRP3
10legionaire disease10.3CASP1, NLRC4
11dystonia 17, torsion, autosomal recessive10.2CASP1, IL1B
12midline interhemispheric variant of holoprosencephaly10.2IL18, IL1B
13qualitative platelet defect10.2IL18, IL1B
14sterility due to immotile flagella10.2IL18, IL1B
15syphilitic encephalitis10.2IL18, IL1B
16sinusitis10.2IL1B, NLRP3
17cryopyrin-associated periodic syndrome10.1
18human monocytic ehrlichiosis10.1IL18, IL1B
19oral candidiasis10.1IL18, IL1B
20asbestosis10.1IL1B, NLRP3
21astrocytoma10.1CASP1, IL1R1
22senile cataract10.0IL18, IL1B
23isolated congenital auditory ossicle malformation10.0IL18, IL1B
24lymphocele10.0CASP1, IL1B, NLRP3
25silo filler's disease10.0IL18, IL1B, NLRP3
26keratitis10.0
27amyloidosis10.0
28wells syndrome10.0
29nasopharyngitis9.9CASP1, IL1B, NLRC4
30cutaneous porphyria9.9CASP1, IL1B
31warm antibody hemolytic anemia9.9IL1B, IL1R1, NLRP3
32leukoplakia9.9IL18, IL1R1
33nervous system cancer9.8IL18, IL1B
34keloids9.8IL1B, IL1R1, IL1RAPL2
35pulmonary systemic sclerosis9.7IL1B, IL1R1, IL1RAPL2
36diamond-blackfan anemia 39.6IL18, IL1B, IL1R1
37collagenous gastritis9.6IL1R1, IL1RAPL2, NLRP3, PLCG2
38pleomorphic lipoma9.6CASP1, IL1B
39radioulnar synostosis retinal pigment abnormalities9.5IL1B, IL1R1, IL1RAPL2, NLRP3
40malaria9.4CASP1, IL18, IL1B, NLRP3
41atherosclerosis9.3IL18, IL1B, SAA1
42asthma9.2IL18, IL1B, IL1R1, NLRP3
43pyloric stenosis, infantile hypertrophic, 29.2CASP1, IL1B, NLRP3, SAA1
44rheumatoid arthritis8.8IL18, IL1B, IL1R1, SAA1
45cinca syndrome8.5CASP1, IL18, IL1B, IL1R1, IL1RAPL2, NLRP3
46familial dupuytren contracture6.7CASP1, IL18, IL1B, IL1R1, IL1RAPL2, NLRC4

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:

 52 (show all 17)
  • sensorineural hearing impairment
  • conjunctivitis
  • hyperhidrosis
  • pruritus
  • urticaria
  • arthritis
  • dehydration
  • fever
  • polydipsia
  • nausea and vomiting
  • abdominal pain
  • headache
  • arthralgia
  • myalgia
  • erythema
  • fatigue
  • dysesthesia

UMLS symptoms related to Familial Cold Autoinflammatory Syndrome:


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

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 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
NorepinephrinePhase 466451-41-2439260
Synonyms:
(-)-(R)-Norepinephrine
(-)-Arterenol
(-)-Arterenol free base
(-)-NORADRENALINE
(-)-Noradrenaline
(-)-Norepinephrine
(-)-alpha-(Aminomethyl)protocatechuyl alcohol
(R)-(-)-Norepinephrine
(R)-4-(2-Amino-1-hydroxyethyl)-1,2-benzenediol
(R)-4-(2-amino-1-Hydroxyethyl)-1,2-benzenediol
(R)-Noradrenaline
(R)-Norepinephrine
1,2-Benzenediol, 4-(2-amino-1-hydroxyethyl)-, (R)- (9CI)
4-(2-Amino-1-hydroxyethyl)-1,2-benzenediol
4-[(1R)-2-Amino-1-hydroxyethyl]-1,2-benzenediol
4-[(1R)-2-amino-1-hydroxyethyl]benzene-1,2-diol
4899-05-2
51-40-1 (l-tartrate (1:1))
51-41-2
66197-73-7
A7257_SIGMA
AC1L96ZT
ALBB-006229
Adrenor
Aktamin
Arterenol
BRN 4231961
BSPBio_002079
C00547
CHEBI:18357
CHEMBL1437
CID439260
D-(-)-Noradrenaline
D00076
D53D5E3A-2360-4CA9-8031-6C2CD4062FD5
DB00368
DivK1c_000230
EINECS 200-096-6
HMS1920B08
HMS2089E18
HMS2091J08
HMS500L12
IDI1_000230
KBio1_000230
KBio2_001489
KBio2_004057
KBio2_006625
KBio3_001579
KBioGR_000635
KBioSS_001489
L-2-Amino-1-(3,4-dihydroxyphenyl)ethanol
L-3,4-Dihydroxyphenylethanolamine
L-3,4-dihydroxyphenylethanolamine
L-Arterenol
L-Noradrenaline
L-Norepinephrine
L-alpha-(Aminomethyl)-3,4-dihydroxybenzyl alcohol
L-alpha-(aminomethyl)-3,4-dihydroxybenzyl alcohol
L-arterenol
L-noradrenaline
LS-42676
LT03330026
 
LT4
Levarterenol
Levarterenolo
Levarterenolo [DCIT]
Levoarterenol
Levonor
Levonoradrenaline
Levonorepinephrine
Levophed
NCGC00159406-02
NCGC00159406-03
NCGC00159406-04
NCGC00159406-05
NCGC00159406-06
NCGC00159406-07
NCGC00159406-09
NINDS_000230
Nor adrenalin
Nor adrenalin (TN)
Nor-Epirenan
Nor-adrenaline
Noradrenalin
Noradrenalina
Noradrenalina [Italian]
Noradrenaline
Noradrenaline (JP15)
Noradrenalinum
Norartrinal
Noreinefrina
Noreinefrina [INN-Spanish]
Norepinefrina
Norepinephrine
Norepinephrine (INN)
Norepinephrine Noradrenalin
Norepinephrine [INN:JAN]
Norepinephrine l-Tartrate (1:1)
Norepinephrinum
Norepinephrinum [INN-Latin]
Norepirenamine
PDSP1_001111
PDSP2_001095
SGCUT00123
SPBio_001048
SPECTRUM1500436
STK503776
Spectrum2_001064
Spectrum3_000520
Spectrum4_000078
Spectrum5_001068
Spectrum_001009
Sympathin E
UNII-X4W3ENH1CV
bmse000404
l-1-(3,4-Dihydroxyphenyl)-2-aminoethanol
l-2-Amino-1-(3,4-dihydroxyphenyl)ethanol
nchembio.284-comp2
nchembio.64-comp2
nchembio705-1
noradrenaline
norepinefrina
norepinephrine
norepinephrinum
to_000024
2
DopaminePhase 4367851-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
3
SerotoninPhase 4351050-67-95202
Synonyms:
3-(2-Aminoethyl)-1H-indol-5-ol
3-(2-Aminoethyl)indol-5-ol
3-(b-Aminoethyl)-5-hydroxyindole
5-HT
5-HTA
5-Hydroxy-3-(b-aminoethyl)indole
 
5-Hydroxy-tryptamine
5-Hydroxyltryptamine
5-Hydroxytriptamine
5-Hydroxytryptamine
Antemovis
DS substance
Enteramin
Enteramine
4dexetimidePhase 450021888-98-2
5
CitalopramPhase 450059729-33-82771
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 (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
Pramcit
Prestwick3_000692
Recital
SAM002589960
ST069372
STL058639
Seropram
Talam
Talohexal
Temperax
UNII-0DHU5B8D6V
Vodelax
Zentius
Zetalo
[3H]Citalopram
citalopram
6GinsengNutraceuticalPhase 49050647-08-0
7
Vitamin ANutraceuticalPhase 445011103-57-4, 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
(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 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
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 A1
Vitamin A1 alcohol
Vitamin A1 alcohol, all trans
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
8retinolNutraceuticalPhase 4450
9
PancrelipasePhase 1, Phase 291753608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
10pancreatinPhase 1, Phase 2917
11COLANutraceuticalPhase 21824
12
MetronidazolePhase 1438443-48-14173
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
Metrodzhil
Metrogel-vaginal (TN)
Metrogyl
Metrolag
Metrolyl
Metromidol
Metronidaz
Metronidazol
Metronidazol [INN-Spanish]
Metronidazole (JP15/USP/INN)
Metronidazole Benzoate
Metronidazole Monohydrochloride
Metronidazole Phosphoester
Metronidazole [USAN:INN:BAN:JAN]
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
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Noritate
Noritate (TN)
Novonidazol
Orvagil
Prestwick0_000081
Prestwick1_000081
Prestwick2_000081
Prestwick3_000081
Prestwick_334
Protostat
RP 8823
RP-8823
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S1907_Selleck
SAM001247010
SBB041018
SC 10295
SMP1_000189
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SPBio_001941
SPECTRUM1500412
STK177359
Sanatrichom
Satric
Spectrum2_000883
Spectrum3_000506
Spectrum4_000060
Spectrum5_001289
Spectrum_001035
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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

Interventional clinical trials:

(show all 31)
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 HandsRecruitingNCT02645916Phase 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
17HL2351 CAPS Phase II StudyRecruitingNCT02853084Phase 2
18Vaccine Therapy in Treating Patients With Cancer of the Gastrointestinal TractTerminatedNCT00012246Phase 2
19A Pilot Study of XOMA 052 in Familial Cold Autoinflammatory Syndrome / Muckle-Wells Syndrome and Behcet's DiseaseWithdrawnNCT01211977Phase 1, Phase 2
20The Use of Kineret (Anakinra) in the Treatment of Familial Cold UrticariaCompletedNCT00214851Phase 1
21Vaccine Therapy in Treating Patients With Refractory Stage IV CancerCompletedNCT00057915Phase 1
22Vaccine Therapy With or Without Sargramostim in Treating Patients With CancerTerminatedNCT00009958Phase 1
23Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) PatientsCompletedNCT01213641
24Simulation-based Training for Flexible Cystoscopy - a Patient Transfer Randomized TrialCompletedNCT02411747
25Efficacy of Yoga for Treatment-Resistant Posttraumatic Stress DisorderRecruitingNCT00839813
26Pathogenesis of Physical Induced Urticarial SyndromesRecruitingNCT00887939
27Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic FactorsRecruitingNCT00933296
28Cap Assisted Balloon Enteroscopy Versus Conventional Balloon Enteroscopy In The Evaluation Of Obscure Gastrointestinal Bleeding: A Randomized Controlled TrialRecruitingNCT02315404
29The CAP-1 Trial: Stepwise Excavation Versus One Completed Excavation in Deep CariesActive, not recruitingNCT00187837
30The CAP-2 Trial: Effect of Direct Pulp Capping Versus Partial PulpotomyActive, not recruitingNCT00187850
31Cochlear Implants Registry in Thailand ProjectActive, not recruitingNCT02830659

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 Autoinflammatory Syndrome25

Anatomical Context for Familial Cold Autoinflammatory Syndrome

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MalaCards organs/tissues related to Familial Cold Autoinflammatory Syndrome:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.6CASP1, IL1B, IL1R1, NLRP12, PLCG2
2MP:00107718.0CASP1, IL18, IL1B, IL1R1, NLRP3, PLCG2
3MP:00053847.6CASP1, IL18, IL1R1, NLRC4, NLRP12, NLRP3
4MP:00053877.3CASP1, IL18, IL1B, IL1R1, NLRC4, NLRP12
5MP:00053977.0CASP1, IL18, IL1B, IL1R1, NLRC4, NLRP12
6MP:00053766.6CASP1, IL18, IL1B, IL1R1, NLRP12, NLRP3

Publications for Familial Cold Autoinflammatory Syndrome

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Articles related to Familial Cold Autoinflammatory Syndrome:

(show all 22)
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
Monocytes from familial cold autoinflammatory syndrome patients are activated by mild hypothermia. (17320940)
2007
14
Response to IL-1-receptor antagonist in a child with familial cold autoinflammatory syndrome. (17300660)
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
A case of familial cold autoinflammatory syndrome confirmed by the presence of a CIAS1 mutation. (15149524)
2004
19
Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. (15541451)
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

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 23)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5IL1B, IL1R1
29.3CASP1, IL1B, NLRP3
39.2IL18, IL1B
49.2IL18, IL1B
59.2IL18, IL1B
69.2IL1B, IL1R1, PLCG2
79.2IL1B, IL1R1, PLCG2
89.1IL18, IL1R1
9
Show member pathways
9.1CASP1, IL1B, IL1R1
108.8CASP1, IL18, IL1B
118.8CASP1, IL18, IL1B
12
Show member pathways
8.7IL18, IL1B, IL1R1
138.7IL18, IL1B, IL1R1
14
Show member pathways
8.7CASP1, IL1B, IL1R1, PLCG2
158.5CASP1, IL18, IL1B, NLRC4
16
Show member pathways
8.5CASP1, IL18, IL1B, NLRC4
17
Show member pathways
8.5CASP1, IL18, IL1B, NLRP3
18
Show member pathways
8.2CASP1, IL18, IL1B, SAA1
19
Show member pathways
7.9CASP1, IL18, IL1B, IL1R1, PLCG2
20
Show member pathways
7.9CASP1, IL18, IL1B, IL1R1, PLCG2
21
Show member pathways
7.8CASP1, IL18, IL1B, NLRC4, NLRP12, NLRP3
22
Show member pathways
6.9CASP1, IL18, IL1B, IL1R1, NLRC4, NLRP12
23
Show member pathways
6.6CASP1, IL18, IL1B, IL1R1, NLRC4, NLRP3

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1IPAF inflammasome complexGO:00725579.7CASP1, NLRC4
2NLRP3 inflammasome complexGO:00725599.4CASP1, NLRP3

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:004328110.5NLRC4, NLRP12
2pyroptosisGO:007026910.3CASP1, NLRC4
3regulation of I-kappaB kinase/NF-kappaB signalingGO:004312210.2IL1B, NLRP12
4cellular response to organic substanceGO:007131010.1CASP1, IL1B
5ovulationGO:003072810.0IL1B, IL1R1
6positive regulation of interleukin-1 beta secretionGO:005071810.0CASP1, NLRP12, NLRP3
7positive regulation of cytokine secretionGO:00507159.9CASP1, SAA1
8interleukin-1 beta productionGO:00326119.9CASP1, IL1B, NLRP3
9positive regulation of NF-kappaB import into nucleusGO:00423469.8IL18, IL1B
10lipopolysaccharide-mediated signaling pathwayGO:00316639.8IL18, IL1B
11positive regulation of interferon-gamma productionGO:00327299.8IL18, IL1B
12positive regulation of NF-kappaB transcription factor activityGO:00510929.8IL1B, NLRC4, NLRP3
13negative regulation of inflammatory responseGO:00507289.7NLRP12, NLRP3, SAA1
14response to ATPGO:00331989.6CASP1, IL1B
15positive regulation of granulocyte macrophage colony-stimulating factor productionGO:00327259.6IL18, IL1B
16response to lipopolysaccharideGO:00324969.5CASP1, IL1B, PLCG2
17cytokine-mediated signaling pathwayGO:00192219.4IL1B, IL1R1, IL1RAPL2
18regulation of inflammatory responseGO:00507279.3CASP1, IL1R1, NLRP3
19activation of cysteine-type endopeptidase activity involved in apoptotic processGO:00069199.3CASP1, NLRC4, NLRP12, NLRP3
20apoptotic processGO:00069159.0CASP1, IL1B, NLRC4, NLRP3
21inflammatory responseGO:00069548.9IL18, IL1B, NLRC4, NLRP3

Molecular functions related to Familial Cold Autoinflammatory Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1interleukin-1 receptor activityGO:00049089.8IL1R1, IL1RAPL2
2cysteine-type endopeptidase activator activity involved in apoptotic processGO:00086569.7CASP1, NLRP12

Sources for Familial Cold Autoinflammatory Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet