FCU
MCID: FML052
MIFTS: 49

Familial Cold Autoinflammatory Syndrome (FCU) malady

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

Aliases & Classifications for Familial Cold Autoinflammatory Syndrome

Aliases & Descriptions for Familial Cold Autoinflammatory Syndrome:

Name: Familial Cold Autoinflammatory Syndrome 50 25 56 29
Familial Cold Urticaria 50 25 56 69
Fcas 50 25 56
Cold Hypersensitivity 25 69
Fcu 25 56
Familial Cold-Induced Autoinflammatory Syndrome 25
Familial Polymorphous Cold Eruption 50

Characteristics:

Orphanet epidemiological data:

56
familial cold urticaria
Inheritance: Autosomal dominant; Age of onset: Adolescent,Childhood,Infancy; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 56 ORPHA47045
UMLS via Orphanet 70 C0343068

Summaries for Familial Cold Autoinflammatory Syndrome

NIH Rare Diseases : 50 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 pruritus, arthralgia and fatigue. An important gene associated with Familial Cold Autoinflammatory Syndrome is NLRP3 (NLR Family Pyrin Domain Containing 3), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Norepinephrine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and monocytes, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and hematopoietic system

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

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 44)
id Related Disease Score Top Affiliating Genes
1 muckle-wells syndrome 29.4 CASP1 IL1B IL1R1 NLRP3
2 familial cold autoinflammatory syndrome 2 12.4
3 familial cold autoinflammatory syndrome 3 12.4
4 familial cold autoinflammatory syndrome 4 12.4
5 familial cold-induced inflammatory syndrome 1 11.8
6 cold urticaria 11.3
7 cryopyrin-associated periodic syndrome 11.0
8 chromosome 16p11.2 duplication syndrome autism, susceptibility to, 14b, included 10.2 CASP1 IL1B
9 retinal cancer 10.2 IL1B NLRP3
10 porokeratosis 3, disseminated superficial actinic 10.2 IL1B NLRP3
11 meier-gorlin syndrome 3 10.1 IL1B NLRP3
12 systemic lupus erythematosus 1 10.1 CASP1 NLRC4
13 tau syndrome 10.1 IL18 IL1B
14 amelanotic melanoma 10.0 CASP1 IL1B NLRP3
15 laryngotracheoesophageal cleft type 2 10.0 IL18 IL1B
16 cutaneous sclerosis 10.0 IL1R1 NLRP3
17 prostatitis 10.0 IL1R1 NLRP3
18 gonococcal endophthalmia 10.0 IL1B NLRP3
19 steroid dehydrogenase deficiency dental anomalies 10.0 IL18 IL1B
20 gastric leiomyoma 10.0 IL18 IL1B
21 acquired thrombocytopenia 10.0 IL18 IL1B
22 malignant histiocytosis 9.9 IL1R1 NLRP3
23 isolated growth hormone deficiency 9.9 CASP1 IL18 IL1B
24 warthin tumor 9.9 IL1B IL1R1 NLRP3
25 senile reticular retinal degeneration 9.9 IL1B IL1R1 NLRP3
26 pyloric stenosis, infantile hypertrophic, 2 9.8 CASP1 IL1B NLRP3 SAA1
27 giant cell glioblastoma 9.8 CASP1 IL1B IL1R1
28 keratitis 9.8
29 amyloidosis 9.8
30 wells syndrome 9.8
31 alpha thalassemia-x-linked intellectual disability syndrome 9.8 CASP1 IL1B NLRP3
32 keratoconus 9.8 IL1B IL1R1 IL1RAPL2
33 benign neonatal seizures 9.8 IL18 IL1B IL1R1
34 coloboma of optic papilla 9.7 IL1R1 IL1RAPL2 NLRP3 PLCG2
35 autistic disorder 9.7 IL18 IL1B SAA1
36 cinca syndrome 9.7 CASP1 IL1B IL1R1 NLRP3
37 aortic aneurysm, familial thoracic 6 9.7 IL18 IL1B IL1R1
38 egg allergy 9.7 IL18 IL1B IL1R1 NLRP3
39 intracranial hemorrhage in brain cerebrovascular malformations 9.6 IL18 IL1B IL1R1 NLRP3
40 bare lymphocyte syndrome, type i 9.6 IL18 IL1B IL1R1 IL1RAPL2
41 wilkes stevenson syndrome 9.5 CASP1 IL1B IL1R1 IL1RAPL2 NLRP3
42 rheumatoid arthritis 9.5 IL18 IL1B IL1R1 SAA1
43 mental retardation, autosomal dominant 22 9.3 CASP1 IL18 IL1B IL1R1 IL1RAPL2 NLRP3
44 familial hyperthyroidism due to mutations in tsh receptor 8.7 CASP1 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

Human phenotypes related to Familial Cold Autoinflammatory Syndrome:

56 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 56 Very frequent (99-80%)
2 arthralgia 56 Occasional (29-5%)
3 fatigue 56 Very frequent (99-80%)
4 myalgia 56 Very frequent (99-80%)
5 fever 56 Very frequent (99-80%)
6 headache 56 Frequent (79-30%)
7 abdominal pain 56 Occasional (29-5%)
8 nausea and vomiting 56 Frequent (79-30%)
9 polydipsia 56 Occasional (29-5%)
10 dysesthesia 56 Very frequent (99-80%)
11 hyperhidrosis 56 Very frequent (99-80%)
12 arthritis 56 Very frequent (99-80%)
13 sensorineural hearing impairment 56 Occasional (29-5%)
14 dehydration 56 Occasional (29-5%)
15 erythema 56 Very frequent (99-80%)
16 conjunctivitis 56 Occasional (29-5%)
17 urticaria 56 Very frequent (99-80%)

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.28 CASP1 IL18 IL1B NLRP3
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.28 CASP1 IL18 IL1B NLRC4 NLRP3

MGI Mouse Phenotypes related to Familial Cold Autoinflammatory Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.92 CASP1 IL18 IL1B IL1R1 NLRC4 NLRP12
2 cellular MP:0005384 9.91 NLRP3 PLCG2 CASP1 IL18 IL1R1 NLRC4
3 homeostasis/metabolism MP:0005376 9.86 CASP1 IL18 IL1B IL1R1 NLRP12 NLRP3
4 immune system MP:0005387 9.76 IL1R1 NLRC4 NLRP12 NLRP3 PLCG2 CASP1
5 integument MP:0010771 9.43 CASP1 IL18 IL1B IL1R1 NLRP3 PLCG2
6 neoplasm MP:0002006 9.02 CASP1 IL1B IL1R1 NLRP12 PLCG2

Drugs & Therapeutics for Familial Cold Autoinflammatory Syndrome

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

(show all 43)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Norepinephrine Approved Phase 4 51-41-2 439260
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Citalopram Approved Phase 4 59729-33-8 2771
4
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
5
Ginseng Approved, Nutraceutical Phase 4 50647-08-0
6 Analgesics Phase 4
7
Serotonin Phase 4 50-67-9 5202
8 Serotonin Agents Phase 4
9 Serotonin Uptake Inhibitors Phase 4
10 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
11 Neurotransmitter Agents Phase 4
12 Neurotransmitter Uptake Inhibitors Phase 4
13 Peripheral Nervous System Agents Phase 4
14 Dopamine Agents Phase 4
15 Duloxetine Hydrochloride Phase 4
16 Antidepressive Agents Phase 4
17 Antidepressive Agents, Second-Generation Phase 4
18 Psychotropic Drugs Phase 4
19 Retinol palmitate Phase 4
20 CHI3L1 protein, human Phase 4
21 retinol Nutraceutical Phase 4
22 Omega 3 Fatty Acid Nutraceutical Phase 4
23 Vaccines Phase 3,Phase 1,Phase 2
24 Immunoglobulins Phase 3
25 Antibodies, Monoclonal Phase 3
26 Antibodies Phase 3
27
Pancrelipase Approved Phase 1, Phase 2 53608-75-6
28 pancreatin Phase 1, Phase 2
29 Interleukin 1 Receptor Antagonist Protein Phase 2,Phase 1
30 Adjuvants, Immunologic Phase 2
31 Freund's Adjuvant Phase 2
32 Cola Nutraceutical Phase 2
33
Metronidazole Approved Phase 1 443-48-1 4173
34 Antirheumatic Agents Phase 1
35 Anti-Infective Agents Phase 1
36 Antiparasitic Agents Phase 1
37 Antiprotozoal Agents Phase 1
38
Simvastatin Approved 79902-63-9 54454
39 Hydroxymethylglutaryl-CoA Reductase Inhibitors
40 Hypolipidemic Agents
41 Anticholesteremic Agents
42 Lipid Regulating Agents
43 Antimetabolites

Interventional clinical trials:

(show all 34)
id Name Status NCT ID Phase
1 The Impact of Omega-3 Supplementation on Gene Expression in Type 2 Diabetics Unknown status NCT01478776 Phase 4
2 Trial for Antidepressant Treatment for Negative Symptom of Schizophrenia With NRG1 Risk Genotype Unknown status NCT01078870 Phase 4
3 Effect of Korean Red Ginseng on Women With Cold Hypersensitivity of Hands and Feet Completed NCT01664156 Phase 4
4 Assessing the Effects of Omega-3 Supplementation on Some Serum BDNF، Follistatin، Irisin Levels in Men With CAD Completed NCT02382471 Phase 4
5 Assessing the Effects of Omega-3 Supplementation on Serum HSP27, HSP70, YKL40, BMP-4 Levels in Male Patient With CAD Completed NCT02117960 Phase 4
6 Effect of Omega-3 Supplementation on Serum Level and Gene Expression of IGF-1and IGFBP-3 in Men With CVD. Completed NCT02092584 Phase 4
7 Efficacy and Safety of Danggui-Sayuk-Ga-Osuyu-Saenggang-tang on Korean Patients With Cold Hypersensitivity in the Hands Recruiting NCT02645916 Phase 4
8 The Effect of n-3 Fatty Acid Supplementation on Serum Levels, and Gene Expression of type2 Diabetes Patient Enrolling by invitation NCT02261545 Phase 4
9 Efficacy 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 Disease Completed NCT00685373 Phase 3
10 Efficacy and Safety Study of Canakinumab Administered for 6 Months (24 Weeks) in Japanese Patients With Cryopyrin-associated Periodic Syndromes Followed by an Extension Phase Completed NCT00991146 Phase 3
11 Efficacy, 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 Disease Completed NCT01302860 Phase 3
12 Efficacy, 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 Disease Completed NCT01576367 Phase 3
13 Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS) Completed NCT00288704 Phase 3
14 The Safety and Efficacy of Canakinumab in Patients Aged 4 Years or Older Diagnosed With Cryopyrin-associated Periodic Syndromes (CAPS) in Canada Completed NCT01105507 Phase 3
15 Efficacy and Safety of Ojeok-san on Korean Patients With Cold Hypersensitivity in the Hands and Feet Not yet recruiting NCT03083522 Phase 3
16 Study of CAP1-6D in Patients With Locally Advanced or Surgically Resected Pancreatic Adenocarcinoma Completed NCT00203892 Phase 1, Phase 2
17 Interleukin-1 Trap to Treat Autoinflammatory Diseases Completed NCT00094900 Phase 2
18 Vaccine Therapy in Treating Patients With Cancer of the Gastrointestinal Tract Terminated NCT00012246 Phase 2
19 HL2351 CAPS Phase II Study Terminated NCT02853084 Phase 2
20 A Pilot Study of XOMA 052 in Familial Cold Autoinflammatory Syndrome / Muckle-Wells Syndrome and Behcet's Disease Withdrawn NCT01211977 Phase 1, Phase 2
21 The Use of Kineret (Anakinra) in the Treatment of Familial Cold Urticaria Completed NCT00214851 Phase 1
22 Vaccine Therapy in Treating Patients With Refractory Stage IV Cancer Completed NCT00057915 Phase 1
23 Cold Plasma for Wound Treatment, Safety Study Not yet recruiting NCT03007264 Phase 1
24 Vaccine Therapy With or Without Sargramostim in Treating Patients With Cancer Terminated NCT00009958 Phase 1
25 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Factors Unknown status NCT00933296
26 Cap Assisted Balloon Enteroscopy Versus Conventional Balloon Enteroscopy In The Evaluation Of Obscure Gastrointestinal Bleeding: A Randomized Controlled Trial Unknown status NCT02315404
27 Efficacy of Yoga for Treatment-Resistant Posttraumatic Stress Disorder Unknown status NCT00839813
28 The CAP-1 Trial: Stepwise Excavation Versus One Completed Excavation in Deep Caries Completed NCT00187837
29 The CAP-2 Trial: Effect of Direct Pulp Capping Versus Partial Pulpotomy Completed NCT00187850
30 Simulation-based Training for Flexible Cystoscopy - a Patient Transfer Randomized Trial Completed NCT02411747
31 Targeting Sympathetic Overactivity in Heart Failure Patients With Statins Completed NCT01097785
32 Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) Patients Completed NCT01213641
33 Pathogenesis of Physical Induced Urticarial Syndromes Recruiting NCT00887939
34 Cochlear Implants Registry in Thailand Project Active, not recruiting NCT02830659

Search NIH Clinical Center for Familial Cold Autoinflammatory Syndrome

Genetic Tests for Familial Cold Autoinflammatory Syndrome

Genetic tests related to Familial Cold Autoinflammatory Syndrome:

id Genetic test Affiliating Genes
1 Familial Cold Autoinflammatory Syndrome 29

Anatomical Context for Familial Cold Autoinflammatory Syndrome

MalaCards organs/tissues related to Familial Cold Autoinflammatory Syndrome:

39
Skin, Bone, Monocytes

Publications for Familial Cold Autoinflammatory Syndrome

Articles related to Familial Cold Autoinflammatory Syndrome:

(show all 22)
id Title Authors Year
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

ClinVar genetic disease variations for Familial Cold Autoinflammatory Syndrome:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 NLRP3 NM_001243133.1(NLRP3): c.1316C> T (p.Ala439Val) single nucleotide variant Pathogenic rs121908146 GRCh37 Chromosome 1, 247588067: 247588067
2 NLRP3 NM_001243133.1(NLRP3): c.1880A> G (p.Glu627Gly) single nucleotide variant Pathogenic rs121908148 GRCh37 Chromosome 1, 247588631: 247588631
3 NLRP3 NM_001243133.1(NLRP3): c.1055C> T (p.Ala352Val) single nucleotide variant Pathogenic rs121908149 GRCh37 Chromosome 1, 247587806: 247587806
4 NLRP3 NM_001243133.1(NLRP3): c.778C> T (p.Arg260Trp) single nucleotide variant Pathogenic rs121908150 GRCh37 Chromosome 1, 247587529: 247587529
5 NLRP3 NM_001243133.1(NLRP3): c.1705G> C (p.Gly569Arg) single nucleotide variant Pathogenic rs121908151 GRCh37 Chromosome 1, 247588456: 247588456
6 NLRP3 NM_001243133.1(NLRP3): c.1718T> C (p.Phe573Ser) single nucleotide variant Pathogenic rs121908152 GRCh37 Chromosome 1, 247588469: 247588469
7 NLRP3 NM_001243133.1(NLRP3): c.907G> A (p.Asp303Asn) single nucleotide variant Pathogenic rs121908153 GRCh37 Chromosome 1, 247587658: 247587658
8 NLRP3 NM_001243133.1(NLRP3): c.926T> C (p.Phe309Ser) single nucleotide variant Pathogenic rs121908154 GRCh37 Chromosome 1, 247587677: 247587677
9 NLRP3 NM_001243133.1(NLRP3): c.1058T> C (p.Leu353Pro) single nucleotide variant Pathogenic rs28937896 GRCh37 Chromosome 1, 247587809: 247587809
10 NLRP3 NM_001243133.1(NLRP3): c.1043C> T (p.Thr348Met) single nucleotide variant Pathogenic rs151344629 GRCh37 Chromosome 1, 247587794: 247587794
11 NLRP3 NM_001243133.1(NLRP3): c.1213A> C (p.Thr405Pro) single nucleotide variant Pathogenic rs180177445 GRCh37 Chromosome 1, 247587964: 247587964
12 NLRP3 NM_001243133.1(NLRP3): c.1306A> G (p.Thr436Ala) single nucleotide variant Likely pathogenic rs180177465 GRCh37 Chromosome 1, 247588057: 247588057
13 NLRP3 NM_001243133.1(NLRP3): c.2576A> G (p.Tyr859Cys) single nucleotide variant Pathogenic rs180177452 GRCh37 Chromosome 1, 247599355: 247599355
14 NLRP3 NM_001243133.1(NLRP3): c.910G> A (p.Glu304Lys) single nucleotide variant Pathogenic rs180177484 GRCh37 Chromosome 1, 247587661: 247587661
15 NLRP3 NM_001243133.1(NLRP3): c.914T> C (p.Leu305Pro) single nucleotide variant Likely pathogenic rs180177431 GRCh37 Chromosome 1, 247587665: 247587665

Expression for Familial Cold Autoinflammatory Syndrome

Search GEO for disease gene expression data for Familial Cold Autoinflammatory Syndrome.

Pathways for Familial Cold Autoinflammatory Syndrome

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

(show all 29)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 CASP1 IL18 IL1B IL1R1 NLRC4 NLRP3
2
Show member pathways
13.13 CASP1 IL18 IL1B IL1R1 SAA1
3
Show member pathways
13.06 CASP1 IL18 IL1B IL1R1 PLCG2
4
Show member pathways
12.58 CASP1 IL18 IL1B NLRP3
5
Show member pathways
12.51 CASP1 IL18 IL1B SAA1
6
Show member pathways
12.41 CASP1 IL1B IL1R1 PLCG2
7
Show member pathways
12.39 CASP1 IL18 IL1B IL1R1 NLRC4 NLRP12
8
Show member pathways
12.09 CASP1 IL1B IL1R1
9 11.83 IL1B IL1R1 PLCG2
10
Show member pathways
11.77 CASP1 NLRC4 NLRP3
11 11.76 IL18 IL1B SAA1
12
Show member pathways
11.74 IL18 IL1B IL1R1
13 11.65 IL1B IL1R1 PLCG2
14
Show member pathways
11.64 CASP1 IL1B
15 11.6 CASP1 IL18 IL1B NLRC4
16 11.56 IL18 IL1B IL1R1
17 11.51 CASP1 IL1B NLRP3
18 11.36 CASP1 IL18 IL1B NLRC4
19 11.33 IL18 IL1B
20 11.32 IL18 IL1B
21 11.3 IL18 IL1B IL1R1
22
Show member pathways
11.27 IL1B IL1R1
23 11.16 IL18 IL1B
24 11.12 IL18 IL1B
25 10.92 CASP1 IL18 IL1B
26 10.88 IL18 IL1R1
27 10.85 IL18 IL1B IL1R1 NLRP3
28 10.71 CASP1 IL18 IL1B NLRC4 NLRP12 NLRP3
29 10.28 CASP1 IL18 IL1B

GO Terms for Familial Cold Autoinflammatory Syndrome

Cellular components related to Familial Cold Autoinflammatory Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.63 CASP1 IL18 IL1B IL1R1 NLRP3 SAA1
2 NLRP3 inflammasome complex GO:0072559 8.96 CASP1 NLRP3
3 IPAF inflammasome complex GO:0072557 8.62 CASP1 NLRC4

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

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.91 CASP1 IL1B IL1R1 IL1RAPL2 NLRP12 NLRP3
2 apoptotic process GO:0006915 9.9 CASP1 IL1B NLRC4 NLRP3
3 inflammatory response GO:0006954 9.8 IL18 IL1B NLRC4 NLRP3
4 response to lipopolysaccharide GO:0032496 9.74 CASP1 IL1B PLCG2
5 cytokine-mediated signaling pathway GO:0019221 9.71 IL1B IL1R1 IL1RAPL2
6 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.7 IL1B NLRC4 NLRP3
7 positive regulation of interferon-gamma production GO:0032729 9.61 IL18 IL1B
8 cellular response to organic substance GO:0071310 9.59 CASP1 IL1B
9 lipopolysaccharide-mediated signaling pathway GO:0031663 9.58 IL18 IL1B
10 positive regulation of cytokine secretion GO:0050715 9.58 CASP1 SAA1
11 negative regulation of inflammatory response GO:0050728 9.58 NLRP12 NLRP3 SAA1
12 positive regulation of NF-kappaB import into nucleus GO:0042346 9.56 IL18 IL1B
13 response to ATP GO:0033198 9.55 CASP1 IL1B
14 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.51 IL1B NLRP12
15 regulation of inflammatory response GO:0050727 9.5 CASP1 IL1R1 NLRP3
16 regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043281 9.48 NLRC4 NLRP12
17 positive regulation of granulocyte macrophage colony-stimulating factor production GO:0032725 9.46 IL18 IL1B
18 positive regulation of T-helper 2 cell differentiation GO:0045630 9.43 IL18 NLRP3
19 positive regulation of interleukin-1 beta secretion GO:0050718 9.33 CASP1 NLRP12 NLRP3
20 pyroptosis GO:0070269 9.26 CASP1 NLRC4
21 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.26 CASP1 NLRC4 NLRP12 NLRP3
22 interleukin-1 beta production GO:0032611 8.8 CASP1 IL1B NLRP3

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

id Name GO ID Score Top Affiliating Genes
1 cysteine-type endopeptidase activator activity involved in apoptotic process GO:0008656 8.96 CASP1 NLRP12
2 interleukin-1 receptor activity GO:0004908 8.62 IL1R1 IL1RAPL2

Sources for Familial Cold Autoinflammatory Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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