FCU
MCID: FML052
MIFTS: 49

Familial Cold Autoinflammatory Syndrome (FCU) 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 48 25 54 27
Familial Cold Urticaria 48 25 54 68
Fcas 48 25 54
Cold Hypersensitivity 25 68
 
Fcu 25 54
Familial Cold-Induced Autoinflammatory Syndrome 25
Familial Polymorphous Cold Eruption 48

Characteristics:

Orphanet epidemiological data:

54
familial cold autoinflammatory syndrome:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Childhood,Infancy; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet54 ORPHA47045
UMLS via Orphanet69 C0343068

Summaries for Familial Cold Autoinflammatory Syndrome

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NIH Rare Diseases:48 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 muckle-wells syndrome and familial cold autoinflammatory syndrome 2, and has symptoms including Array, Array and Array. An important gene associated with Familial Cold Autoinflammatory Syndrome is NLRP3 (NLR Family Pyrin Domain Containing 3), and among its related pathways are Immune response IFN gamma signaling pathway and African trypanosomiasis. Affiliated tissues include skin, bone and monocytes, and related mouse phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and neoplasm.

Genetics Home Reference:25 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 45)
idRelated DiseaseScoreTop Affiliating Genes
1muckle-wells syndrome29.4CASP1, IL1B, IL1R1, NLRP3
2familial cold autoinflammatory syndrome 212.4
3familial cold autoinflammatory syndrome 312.4
4familial cold autoinflammatory syndrome 412.4
5familial cold-induced inflammatory syndrome 111.8
6cold urticaria11.3
711.1
8cryopyrin-associated periodic syndrome11.0
9chromosome 16p11.2 duplication syndrome autism, susceptibility to, 14b, included10.2CASP1, IL1B
10retinal cancer10.2IL1B, NLRP3
11porokeratosis 3, disseminated superficial actinic10.2IL1B, NLRP3
12meier-gorlin syndrome 310.1IL1B, NLRP3
13systemic lupus erythematosus 110.1CASP1, NLRC4
14tau syndrome10.1IL18, IL1B
15amelanotic melanoma10.0CASP1, IL1B, NLRP3
16laryngotracheoesophageal cleft type 210.0IL18, IL1B
17cutaneous sclerosis10.0IL1R1, NLRP3
18prostatitis10.0IL1R1, NLRP3
19gonococcal endophthalmia10.0IL1B, NLRP3
20steroid dehydrogenase deficiency dental anomalies10.0IL18, IL1B
21gastric leiomyoma10.0IL18, IL1B
22acquired thrombocytopenia10.0IL18, IL1B
23malignant histiocytosis9.9IL1R1, NLRP3
24isolated growth hormone deficiency9.9CASP1, IL18, IL1B
25warthin tumor9.9IL1B, IL1R1, NLRP3
26senile reticular retinal degeneration9.9IL1B, IL1R1, NLRP3
27pyloric stenosis, infantile hypertrophic, 29.8CASP1, IL1B, NLRP3, SAA1
28giant cell glioblastoma9.8CASP1, IL1B, IL1R1
29keratitis9.8
30amyloidosis9.8
31wells syndrome9.8
32alpha thalassemia-x-linked intellectual disability syndrome9.8CASP1, IL1B, NLRP3
33keratoconus9.8IL1B, IL1R1, IL1RAPL2
34benign neonatal seizures9.8IL18, IL1B, IL1R1
35coloboma of optic papilla9.7IL1R1, IL1RAPL2, NLRP3, PLCG2
36autistic disorder9.7IL18, IL1B, SAA1
37cinca syndrome9.7CASP1, IL1B, IL1R1, NLRP3
38aortic aneurysm, familial thoracic 69.7IL18, IL1B, IL1R1
39egg allergy9.7IL18, IL1B, IL1R1, NLRP3
40intracranial hemorrhage in brain cerebrovascular malformations9.6IL18, IL1B, IL1R1, NLRP3
41bare lymphocyte syndrome, type i9.6IL18, IL1B, IL1R1, IL1RAPL2
42wilkes stevenson syndrome9.5CASP1, IL1B, IL1R1, IL1RAPL2, NLRP3
43rheumatoid arthritis9.5IL18, IL1B, IL1R1, SAA1
44mental retardation, autosomal dominant 229.3CASP1, IL18, IL1B, IL1R1, IL1RAPL2, NLRP3
45familial hyperthyroidism due to mutations in tsh receptor8.7CASP1, 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 & Phenotypes for Familial Cold Autoinflammatory Syndrome

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Human phenotypes related to Familial Cold Autoinflammatory Syndrome:

 54 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment54 Occasional (29-5%)
2 conjunctivitis54 Occasional (29-5%)
3 hyperhidrosis54 Very frequent (99-80%)
4 pruritus54 Very frequent (99-80%)
5 urticaria54 Very frequent (99-80%)
6 arthritis54 Very frequent (99-80%)
7 dehydration54 Occasional (29-5%)
8 fever54 Very frequent (99-80%)
9 polydipsia54 Occasional (29-5%)
10 nausea and vomiting54 Frequent (79-30%)
11 abdominal pain54 Occasional (29-5%)
12 headache54 Frequent (79-30%)
13 arthralgia54 Occasional (29-5%)
14 myalgia54 Very frequent (99-80%)
15 erythema54 Very frequent (99-80%)
16 fatigue54 Very frequent (99-80%)
17 dysesthesia54 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Familial Cold Autoinflammatory Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00250-A-18.5CASP1, IL18, IL1B, NLRC4, NLRP3

MGI Mouse Phenotypes related to Familial Cold Autoinflammatory Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.0CASP1, IL1B, IL1R1, NLRP12, PLCG2
2MP:00107718.6CASP1, IL18, IL1B, IL1R1, NLRP3, PLCG2
3MP:00053848.4CASP1, IL18, IL1R1, NLRC4, NLRP12, NLRP3
4MP:00053978.0CASP1, IL18, IL1B, IL1R1, NLRC4, NLRP12
5MP:00053877.9CASP1, IL18, IL1B, IL1R1, NLRC4, NLRP12
6MP:00053767.4CASP1, IL18, IL1B, IL1R1, NLRP12, NLRP3

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 43)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DopamineapprovedPhase 4383651-61-6, 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
2
CitalopramapprovedPhase 451259729-33-82771
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
3
NorepinephrineapprovedPhase 469951-41-2439260
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
4
Vitamin Aapproved, nutraceutical, vet_approvedPhase 449211103-57-4, 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
5
Ginsengapproved, nutraceuticalPhase 49650647-08-0
Synonyms:
Aralia ginseng root
Asian ginseng
Asian ginseng root
Chinese ginseng root
Ginseng (panax ginseng)
Ginseng extract
Ginseng, asian
Hong shen root
Insam root
Korean ginseng
 
Korean ginseng root
Ninjin root
Panax ginseng
Panax ginseng root
Panax ginseng root extract
Panax schinseng root
Panax verus root
Red ginseng
Ren seng root
Ren shen
Ren shen root
True ginseng root
6Peripheral Nervous System AgentsPhase 423689
7
SerotoninPhase 4362750-67-95202
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
8Serotonin and Noradrenaline Reuptake InhibitorsPhase 4457
9Serotonin AgentsPhase 43156
10Neurotransmitter Uptake InhibitorsPhase 43521
11Psychotropic DrugsPhase 46430
12Dopamine AgentsPhase 43836
13AnalgesicsPhase 411733
14Retinol palmitatePhase 4492
15Antidepressive AgentsPhase 42736
16Antidepressive Agents, Second-GenerationPhase 41311
17Duloxetine HydrochloridePhase 4270
18Serotonin Uptake InhibitorsPhase 41587
19Neurotransmitter AgentsPhase 418340
20CHI3L1 protein, humanPhase 410
21retinolNutraceuticalPhase 4492
22Omega 3 Fatty AcidNutraceuticalPhase 41018
23VaccinesPhase 3, Phase 1, Phase 26611
24ImmunoglobulinsPhase 36394
25Antibodies, MonoclonalPhase 34039
26AntibodiesPhase 36394
27
PancrelipaseapprovedPhase 1, Phase 297053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
28Interleukin 1 Receptor Antagonist ProteinPhase 2, Phase 199
29pancreatinPhase 1, Phase 2970
30Adjuvants, ImmunologicPhase 22554
31Freund's AdjuvantPhase 2105
32ColaNutraceuticalPhase 21946
33
MetronidazoleapprovedPhase 1486443-48-14173
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
Nidagel
Noritate
Noritate (TN)
Novonidazol
Orvagil
Prestwick0_000081
Prestwick1_000081
Prestwick2_000081
Prestwick3_000081
Prestwick_334
Protostat
RP 8823
RP-8823
Rathimed
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
34Antirheumatic AgentsPhase 110956
35Antiprotozoal AgentsPhase 12051
36Anti-Infective AgentsPhase 122062
37Antiparasitic AgentsPhase 12199
38
Simvastatinapproved51979902-63-954454
Synonyms:
(+)-Simvastatin
(1S,3R,7S,8S,8aR)-8-{2-[(2R,4R)-4-hydroxy-6-oxotetrahydro-2H-pyran-2-yl]ethyl}-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl 2,2-dimethylbutanoate
2,2-Dimethylbutanoic acid (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8aR)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8ar)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
79902-63-9
AC-1530
AC1L1H1F
AKOS005111006
ARONIS24119
BCBcMAP01_000007
BIDD:GT0769
BPBio1_001001
BRD-K22134346-001-05-8
BRN 4768037
BSPBio_000909
BSPBio_002337
Bio-0672
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,*aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
C25H38O5
CCRIS 7558
CHEBI:9150
CHEMBL1064
CID54454
CPD000718785
Cholestat
Coledis
Colemin
Corolin
D00434
D019821
DRG-0320
Denan
DivK1c_006991
Eucor
HMS1570N11
HMS1922H13
HMS2089D12
HMS2093E06
HSDB 7208
InChI=1/C25H38O5/c1-6-25(4,5)24(28)30-21-12-15(2)11-17-8-7-16(3)20(23(17)21)10-9-19-13-18(26)14-22(27)29-19/h7-8,11,15-16,18-21,23,26H,6,9-10,12-14H2,1-5H3/t15-,16-,18+,19+,20-,21-,23-/m0/s1
KBio1_001935
KBio2_002197
KBio2_004765
KBio2_007333
KBio3_001557
KBioGR_001244
KBioSS_002197
KS-1113
Kolestevan
L 644128-000U
LS-46264
Labistatin
Lipex
Lipinorm
Liponorm
Lipovas
Lodales
MK 0733
MK 733
MK-0733
MK-733
MK733
MLS001304029
MLS001333077
MLS001333078
 
MLS002154038
Medipo
Modutrol
MolPort-002-507-345
MolPort-002-885-862
NCGC00017324-01
NCGC00017324-02
NCGC00017324-03
Nivelipol
Nor-Vastina
Pantok
Pepstatin
Prestwick0_000865
Prestwick1_000865
Prestwick2_000865
Prestwick3_000865
Prestwick_171
Rechol
Rendapid
S1792_Selleck
S6196_SIGMA
SAM002589969
SMR000718785
SPBio_001881
SPBio_002830
SPECTRUM1504236
STK801938
Simcor
Simovil
Simvast CR
Simvastatin
Simvastatin & Primycin
Simvastatin (JAN/USP/INN)
Simvastatin [USAN:INN:BAN]
Simvastatin [Usan:Ban:Inn]
Simvastatin lactone
Simvastatin, Compactin
Simvastatina
Simvastatina [Spanish]
Simvastatine
Simvastatine [French]
Simvastatinum
Simvastatinum [Latin]
Simvotin
Sinvacor
Sinvascor
Sivastin
SpecPlus_000895
Spectrum2_001671
Spectrum3_000669
Spectrum4_000632
Spectrum5_001428
Spectrum_001717
Statin
Synvinolin
TNP00259
UNII-AGG2FN16EV
Valemia
Vasotenal
Velostatin
Vytorin
ZINC03780893
Zocor
Zocor (TN)
Zocor, Simlup, Simcard, Simvacor, Simvoget, Zorced, Simvastatin
Zocord
[(1S,3R,7S,8S,8aR)-8-[2-[(2R,4R)-4-hydroxy-6-oxooxan-2-yl]ethyl]-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl] 2,2-dimethylbutanoate
butanoic acid, 2,2-dimethyl-,1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)-ethyl]-1-naphthalenyl ester, [1S-[1 alpha,3 alpha,7 beta,8 beta(2S*,4S*),-8a beta
nchembio790-comp16
simvastatin
39Lipid Regulating Agents2766
40Hypolipidemic Agents2785
41Antimetabolites12054
42Anticholesteremic Agents2025
43Hydroxymethylglutaryl-CoA Reductase Inhibitors1998

Interventional clinical trials:

(show all 34)
idNameStatusNCT IDPhase
1The Impact of Omega-3 Supplementation on Gene Expression in Type 2 DiabeticsUnknown statusNCT01478776Phase 4
2Trial for Antidepressant Treatment for Negative Symptom of Schizophrenia With NRG1 Risk GenotypeUnknown statusNCT01078870Phase 4
3Effect of Korean Red Ginseng on Women With Cold Hypersensitivity of Hands and FeetCompletedNCT01664156Phase 4
4Assessing the Effects of Omega-3 Supplementation on Some Serum BDNF، Follistatin، Irisin Levels in Men With CADCompletedNCT02382471Phase 4
5Assessing the Effects of Omega-3 Supplementation on Serum HSP27, HSP70, YKL40, BMP-4 Levels in Male Patient With CADCompletedNCT02117960Phase 4
6Effect of Omega-3 Supplementation on Serum Level and Gene Expression of IGF-1and IGFBP-3 in Men With CVD.CompletedNCT02092584Phase 4
7Efficacy and Safety of Danggui-Sayuk-Ga-Osuyu-Saenggang-tang on Korean Patients With Cold Hypersensitivity in the HandsRecruitingNCT02645916Phase 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
15Efficacy and Safety of Ojeok-san on Korean Patients With Cold Hypersensitivity in the Hands and FeetNot yet recruitingNCT03083522Phase 3
16Study of CAP1-6D in Patients With Locally Advanced or Surgically Resected Pancreatic AdenocarcinomaCompletedNCT00203892Phase 1, Phase 2
17Interleukin-1 Trap to Treat Autoinflammatory DiseasesCompletedNCT00094900Phase 2
18Vaccine Therapy in Treating Patients With Cancer of the Gastrointestinal TractTerminatedNCT00012246Phase 2
19HL2351 CAPS Phase II StudyTerminatedNCT02853084Phase 2
20A Pilot Study of XOMA 052 in Familial Cold Autoinflammatory Syndrome / Muckle-Wells Syndrome and Behcet's DiseaseWithdrawnNCT01211977Phase 1, Phase 2
21The Use of Kineret (Anakinra) in the Treatment of Familial Cold UrticariaCompletedNCT00214851Phase 1
22Vaccine Therapy in Treating Patients With Refractory Stage IV CancerCompletedNCT00057915Phase 1
23Cold Plasma for Wound Treatment, Safety StudyNot yet recruitingNCT03007264Phase 1
24Vaccine Therapy With or Without Sargramostim in Treating Patients With CancerTerminatedNCT00009958Phase 1
25Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic FactorsUnknown statusNCT00933296
26Cap Assisted Balloon Enteroscopy Versus Conventional Balloon Enteroscopy In The Evaluation Of Obscure Gastrointestinal Bleeding: A Randomized Controlled TrialUnknown statusNCT02315404
27Efficacy of Yoga for Treatment-Resistant Posttraumatic Stress DisorderUnknown statusNCT00839813
28The CAP-1 Trial: Stepwise Excavation Versus One Completed Excavation in Deep CariesCompletedNCT00187837
29The CAP-2 Trial: Effect of Direct Pulp Capping Versus Partial PulpotomyCompletedNCT00187850
30Simulation-based Training for Flexible Cystoscopy - a Patient Transfer Randomized TrialCompletedNCT02411747
31Targeting Sympathetic Overactivity in Heart Failure Patients With StatinsCompletedNCT01097785
32Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) PatientsCompletedNCT01213641
33Pathogenesis of Physical Induced Urticarial SyndromesRecruitingNCT00887939
34Cochlear 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 Syndrome27

Anatomical Context for Familial Cold Autoinflammatory Syndrome

About this section

MalaCards organs/tissues related to Familial Cold Autoinflammatory Syndrome:

36
Skin, Bone, Monocytes

Publications for Familial Cold Autoinflammatory Syndrome

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Articles related to Familial Cold Autoinflammatory Syndrome:

(show all 22)
idTitleAuthorsYear
1
Withdrawn: An unusual urticarial eruption: familial cold autoinflammatory syndrome. (25988551)
2015
2
An unusual urticarial eruption: Familial cold autoinflammatory syndrome. (26115477)
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
A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome. (17333269)
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
New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes. (18174231)
2008
10
Two pathogenic CIAS1 mutations and plasma cytokine profile in a Finnish patient with familial cold autoinflammatory syndrome responsive to anakinra. (18189199)
2008
11
Use of anakinra (Kineret) in the treatment of familial cold autoinflammatory syndrome with a 16-month follow-up. (18258152)
2008
12
Response to IL-1-receptor antagonist in a child with familial cold autoinflammatory syndrome. (17300660)
2007
13
Monocytes from familial cold autoinflammatory syndrome patients are activated by mild hypothermia. (17320940)
2007
14
Successful treatment of renal amyloidosis due to familial cold autoinflammatory syndrome using an interleukin 1 receptor antagonist. (17336710)
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

Variations for Familial Cold Autoinflammatory Syndrome

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Clinvar genetic disease variations for Familial Cold Autoinflammatory Syndrome:

5 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1NLRP3NM_ 001243133.1(NLRP3): c.1316C> T (p.Ala439Val)SNVPathogenicrs121908146GRCh37Chr 1, 247588067: 247588067
2NLRP3NM_ 001243133.1(NLRP3): c.1880A> G (p.Glu627Gly)SNVPathogenicrs121908148GRCh37Chr 1, 247588631: 247588631
3NLRP3NM_ 001243133.1(NLRP3): c.1055C> T (p.Ala352Val)SNVPathogenicrs121908149GRCh37Chr 1, 247587806: 247587806
4NLRP3NM_ 001243133.1(NLRP3): c.778C> T (p.Arg260Trp)SNVPathogenicrs121908150GRCh37Chr 1, 247587529: 247587529
5NLRP3NM_ 001243133.1(NLRP3): c.1705G> C (p.Gly569Arg)SNVPathogenicrs121908151GRCh37Chr 1, 247588456: 247588456
6NLRP3NM_ 001243133.1(NLRP3): c.1718T> C (p.Phe573Ser)SNVPathogenicrs121908152GRCh37Chr 1, 247588469: 247588469
7NLRP3NM_ 001243133.1(NLRP3): c.907G> A (p.Asp303Asn)SNVPathogenicrs121908153GRCh37Chr 1, 247587658: 247587658
8NLRP3NM_ 001243133.1(NLRP3): c.926T> C (p.Phe309Ser)SNVPathogenicrs121908154GRCh37Chr 1, 247587677: 247587677
9NLRP3NM_ 001243133.1(NLRP3): c.1058T> C (p.Leu353Pro)SNVPathogenicrs28937896GRCh37Chr 1, 247587809: 247587809
10NLRP3NM_ 001243133.1(NLRP3): c.1043C> T (p.Thr348Met)SNVPathogenicrs151344629GRCh37Chr 1, 247587794: 247587794
11NLRP3NM_ 001243133.1(NLRP3): c.1213A> C (p.Thr405Pro)SNVPathogenicrs180177445GRCh37Chr 1, 247587964: 247587964
12NLRP3NM_ 001243133.1(NLRP3): c.1306A> G (p.Thr436Ala)SNVLikely pathogenicrs180177465GRCh37Chr 1, 247588057: 247588057
13NLRP3NM_ 001243133.1(NLRP3): c.2576A> G (p.Tyr859Cys)SNVPathogenicrs180177452GRCh37Chr 1, 247599355: 247599355
14NLRP3NM_ 001243133.1(NLRP3): c.910G> A (p.Glu304Lys)SNVPathogenicrs180177484GRCh37Chr 1, 247587661: 247587661
15NLRP3NM_ 001243133.1(NLRP3): c.914T> C (p.Leu305Pro)SNVLikely pathogenicrs180177431GRCh37Chr 1, 247587665: 247587665

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 29)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.6CASP1, IL1B
29.5IL18, IL1B
39.5IL18, IL1B
49.5IL18, IL1B
59.5IL18, IL1B
6
Show member pathways
9.4CASP1, NLRC4, NLRP3
7
Show member pathways
9.4IL1B, IL1R1
89.3IL18, IL1R1
99.3CASP1, IL1B, NLRP3
109.1CASP1, IL18, IL1B
119.1CASP1, IL18, IL1B
129.1IL1B, IL1R1, PLCG2
139.1IL1B, IL1R1, PLCG2
14
Show member pathways
9.0CASP1, IL1B, IL1R1
158.9IL18, IL1B, IL1R1
16
Show member pathways
8.9IL18, IL1B, IL1R1
178.9IL18, IL1B, IL1R1
18
Show member pathways
8.8CASP1, IL18, IL1B, NLRP3
19
Show member pathways
8.8CASP1, IL18, IL1B, NLRC4
208.8CASP1, IL18, IL1B, NLRC4
218.7IL18, IL1B, SAA1
22
Show member pathways
8.6CASP1, IL1B, IL1R1, PLCG2
238.6IL18, IL1B, IL1R1, NLRP3
24
Show member pathways
8.3CASP1, IL18, IL1B, SAA1
25
Show member pathways
8.1CASP1, IL18, IL1B, IL1R1, PLCG2
268.1CASP1, IL18, IL1B, NLRC4, NLRP12, NLRP3
27
Show member pathways
7.6CASP1, IL18, IL1B, IL1R1, SAA1
28
Show member pathways
7.1CASP1, IL18, IL1B, IL1R1, NLRC4, NLRP12
29
Show member pathways
6.7CASP1, 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:00725579.9CASP1, NLRC4
2NLRP3 inflammasome complexGO:00725599.8CASP1, NLRP3
3extracellular regionGO:00055767.6CASP1, IL18, IL1B, IL1R1, NLRP3, SAA1

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:004328110.5NLRC4, NLRP12
2pyroptosisGO:007026910.5CASP1, NLRC4
3positive regulation of T-helper 2 cell differentiationGO:004563010.4IL18, NLRP3
4regulation of I-kappaB kinase/NF-kappaB signalingGO:004312210.4IL1B, NLRP12
5cellular response to organic substanceGO:007131010.4CASP1, IL1B
6response to ATPGO:003319810.4CASP1, IL1B
7lipopolysaccharide-mediated signaling pathwayGO:003166310.3IL18, IL1B
8positive regulation of granulocyte macrophage colony-stimulating factor productionGO:003272510.3IL18, IL1B
9positive regulation of interferon-gamma productionGO:003272910.3IL18, IL1B
10positive regulation of NF-kappaB import into nucleusGO:004234610.3IL18, IL1B
11positive regulation of NF-kappaB transcription factor activityGO:005109210.1IL1B, NLRC4, NLRP3
12positive regulation of interleukin-1 beta secretionGO:005071810.1CASP1, NLRP12, NLRP3
13interleukin-1 beta productionGO:003261110.1CASP1, IL1B, NLRP3
14response to lipopolysaccharideGO:003249610.0CASP1, IL1B, PLCG2
15positive regulation of cytokine secretionGO:005071510.0CASP1, SAA1
16regulation of inflammatory responseGO:00507279.9CASP1, IL1R1, NLRP3
17activation of cysteine-type endopeptidase activity involved in apoptotic processGO:00069199.8CASP1, NLRC4, NLRP12, NLRP3
18apoptotic processGO:00069159.8CASP1, IL1B, NLRC4, NLRP3
19negative regulation of inflammatory responseGO:00507289.7NLRP12, NLRP3, SAA1
20cytokine-mediated signaling pathwayGO:00192219.6IL1B, IL1R1, IL1RAPL2
21inflammatory responseGO:00069549.6IL18, IL1B, NLRC4, NLRP3
22signal transductionGO:00071657.4CASP1, IL1B, IL1R1, IL1RAPL2, NLRP12, NLRP3

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

idNameGO IDScoreTop Affiliating Genes
1cysteine-type endopeptidase activator activity involved in apoptotic processGO:00086569.9CASP1, NLRP12
2interleukin-1 receptor activityGO:00049089.3IL1R1, IL1RAPL2

Sources for Familial Cold Autoinflammatory Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet