MCID: FML052
MIFTS: 50

Familial Cold Autoinflammatory Syndrome

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

Aliases & Classifications for Familial Cold Autoinflammatory Syndrome

MalaCards integrated aliases for Familial Cold Autoinflammatory Syndrome:

Name: Familial Cold Autoinflammatory Syndrome 12 50 25 56 29 14
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:

Disease Ontology 12 DOID:0090061
ICD10 33 L50.2
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 familial cold-induced inflammatory syndrome 1 and muckle-wells syndrome, and has symptoms including headache, fatigue and arthritis. 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 Citalopram and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, 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.

Disease Ontology : 12 A primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.

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 50)
id Related Disease Score Top Affiliating Genes
1 familial cold-induced inflammatory syndrome 1 32.0 CASP1 IL1B IL1R1 NLRP3
2 muckle-wells syndrome 28.9 CASP1 IL1B IL1R1 NLRP3
3 familial cold autoinflammatory syndrome 2 12.5
4 familial cold autoinflammatory syndrome 3 12.5
5 familial cold autoinflammatory syndrome 4 12.4
6 cold urticaria 11.3
7 cryopyrin-associated periodic syndrome 11.0
8 hyper-igd syndrome 10.5 NLRP12 NLRP3
9 axillary adenitis 10.4 IL1B NLRP3
10 crystal arthropathies 10.4 IL1R1 NLRP3
11 prostatitis 10.3 IL1R1 NLRP3
12 yao syndrome 10.3 IL1B NLRP3
13 noma 10.3 IL1B NLRP3
14 common cold 10.2 CASP1 NLRC4
15 tabatznik syndrome 10.1 IL18 IL1B
16 keloids 10.1 IL1B IL1R1
17 x-linked dominant intellectual disability-epilepsy syndrome 10.1 IL18 IL1B
18 nail disorder, nonsyndromic congenital, 7 10.1 CASP1 IL18
19 stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features 10.1 IL18 IL1B
20 sinusitis 10.1 IL1B NLRP3
21 nasopharyngitis 10.1 CASP1 NLRC4
22 collagenous gastritis 10.1 IL1R1 NLRP3 PLCG2
23 syphilitic encephalitis 10.1 IL18 IL1B
24 ciliary body cancer 10.0 CASP1 IL1B NLRP3
25 walker dyson syndrome 10.0 IL1B IL1R1 NLRP3
26 dystonia 17, torsion, autosomal recessive 10.0 CASP1 IL1B NLRP3
27 senile reticular retinal degeneration 9.9 IL1B IL1R1 NLRP3
28 rift valley fever 9.9 CASP1 IL1B
29 whistling face syndrome, recessive form 9.9 IL1B IL1R1 NLRP3
30 levator syndrome 9.9 IL18 IL1R1
31 keratitis 9.8
32 amyloidosis 9.8
33 wells syndrome 9.8
34 asbestosis 9.8 IL1B NLRP3
35 neonatal period electroclinical syndrome 9.8 IL1B IL1R1
36 benign eccrine breast spiradenoma 9.8 IL18 IL1B
37 gliosarcoma 9.8 CASP1 IL1B IL1R1
38 benign neonatal seizures 9.6 IL18 IL1B IL1R1
39 isolated growth hormone deficiency 9.6 CASP1 IL18 IL1B
40 ragweed sensitivity 9.6 IL18 IL1B IL1R1
41 diamond-blackfan anemia 3 9.6 IL18 IL1B IL1R1
42 milk allergy 9.4 IL18 IL1B IL1R1 NLRP3
43 kaposi sarcoma 9.3 IL18 IL1B IL1R1 NLRP3
44 atherosclerosis 9.1 IL18 IL1B SAA1
45 familial mediterranean fever, ad 9.1 CASP1 IL1B NLRP3 SAA1
46 malaria 9.0 CASP1 IL18 IL1B IL1R1
47 cinca syndrome 9.0 CASP1 IL1B IL1R1 NLRC4 NLRP3
48 von hippel-lindau syndrome 9.0 IL18 IL1B IL1R1 NLRP3
49 rheumatoid arthritis 8.8 IL18 IL1B IL1R1 SAA1
50 giant axonal neuropathy 2 6.9 CASP1 IL18 IL1B IL1R1 NLRC4 NLRP12

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 headache 56 Frequent (79-30%)
2 fatigue 56 Very frequent (99-80%)
3 arthritis 56 Very frequent (99-80%)
4 myalgia 56 Very frequent (99-80%)
5 fever 56 Very frequent (99-80%)
6 abdominal pain 56 Occasional (29-5%)
7 conjunctivitis 56 Occasional (29-5%)
8 dehydration 56 Occasional (29-5%)
9 hyperhidrosis 56 Very frequent (99-80%)
10 polydipsia 56 Occasional (29-5%)
11 pruritus 56 Very frequent (99-80%)
12 sensorineural hearing impairment 56 Occasional (29-5%)
13 arthralgia 56 Occasional (29-5%)
14 erythema 56 Very frequent (99-80%)
15 urticaria 56 Very frequent (99-80%)
16 nausea and vomiting 56 Frequent (79-30%)
17 dysesthesia 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 CASP1 IL18 IL1R1 NLRC4 NLRP12 NLRP3
3 homeostasis/metabolism MP:0005376 9.86 CASP1 IL18 IL1B IL1R1 NLRP12 NLRP3
4 immune system MP:0005387 9.76 CASP1 IL18 IL1B IL1R1 NLRC4 NLRP12
5 integument MP:0010771 9.43 CASP1 IL18 IL1B IL1R1 NLRP3 PLCG2
6 neoplasm MP:0002006 9.02 IL1B IL1R1 NLRP12 PLCG2 CASP1

Drugs & Therapeutics for Familial Cold Autoinflammatory Syndrome

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

(show top 50) (show all 54)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved Phase 4 59729-33-8 2771
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Norepinephrine Approved Phase 4 51-41-2 439260
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 Retinol palmitate Phase 4
7 Analgesics Phase 4
8 Antidepressive Agents Phase 4
9 Antidepressive Agents, Second-Generation Phase 4
10 Dopamine Agents Phase 4
11 Duloxetine Hydrochloride Phase 4
12 Neurotransmitter Agents Phase 4
13 Neurotransmitter Uptake Inhibitors Phase 4
14 Peripheral Nervous System Agents Phase 4,Phase 1,Phase 2
15 Psychotropic Drugs Phase 4
16
Serotonin Phase 4 50-67-9 5202
17 Serotonin Agents Phase 4
18 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
19 Serotonin Uptake Inhibitors Phase 4
20 CHI3L1 protein, human Phase 4
21 Omega 3 Fatty Acid Nutraceutical Phase 4
22 retinol Nutraceutical Phase 4
23 Antibodies Phase 3
24 Antibodies, Monoclonal Phase 3
25 Immunoglobulins Phase 3
26 Vaccines Phase 3,Phase 1,Phase 2
27
Pancrelipase Approved Phase 1, Phase 2 53608-75-6
28
Fluorouracil Approved Phase 1, Phase 2 51-21-8 3385
29
Lidocaine Approved, Vet_approved Phase 1, Phase 2 137-58-6 3676
30
Oxaliplatin Approved, Investigational Phase 1, Phase 2 61825-94-3 5310940 9887054 43805 6857599
31
leucovorin Approved, Nutraceutical Phase 1, Phase 2 58-05-9 143 6006
32 pancreatin Phase 1, Phase 2
33 Interleukin 1 Receptor Antagonist Protein Phase 2,Phase 1
34 Anesthetics Phase 1, Phase 2
35 Anesthetics, Local Phase 1, Phase 2
36 Anti-Arrhythmia Agents Phase 1, Phase 2
37 Central Nervous System Depressants Phase 1, Phase 2
38 Diuretics, Potassium Sparing Phase 1, Phase 2
39 Pharmaceutical Solutions Phase 1, Phase 2
40 Sodium Channel Blockers Phase 1, Phase 2
41 Adjuvants, Immunologic Phase 2
42 Freund's Adjuvant Phase 2
43 Cola Nutraceutical Phase 2
44
Metronidazole Approved Phase 1 443-48-1 4173
45 Antirheumatic Agents Phase 1
46 Anti-Infective Agents Phase 1
47 Antiparasitic Agents Phase 1
48 Antiprotozoal Agents Phase 1
49
Simvastatin Approved 79902-63-9 54454
50 Anticholesteremic Agents

Interventional clinical trials:

(show all 36)

id Name Status NCT ID Phase Drugs
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 Lexapro;Cymbalta;Placebo
3 Effect of Korean Red Ginseng on Women With Cold Hypersensitivity of Hands and Feet Completed NCT01664156 Phase 4 Korean red ginseng;Placebo
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 Danggui-Sayuk-Ga-Osuyu-Saenggang-tang;Placebo: corn starch
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 Canakinumab (ACZ885)
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 canakinumab
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 ACZ885
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 rilonacept 160 mg;Placebo;rilonacept 160 mg
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 canakinumab (company code: ACZ885D)
15 Efficacy and Safety of Ojeok-san on Korean Patients With Cold Hypersensitivity in the Hands and Feet Not yet recruiting NCT03083522 Phase 3 Ojeok-San;Placebo
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 IL-1 Trap
18 Lidocaine for Oxaliplatin-induced Neuropathy Recruiting NCT03254394 Phase 1, Phase 2 Lidocaine Hydrochloride;Placebo;FOLFOX regimen
19 Vaccine Therapy in Treating Patients With Cancer of the Gastrointestinal Tract Terminated NCT00012246 Phase 2
20 HL2351 CAPS Phase II Study Terminated NCT02853084 Phase 2 HL2351
21 A Pilot Study of XOMA 052 in Familial Cold Autoinflammatory Syndrome / Muckle-Wells Syndrome and Behcet's Disease Withdrawn NCT01211977 Phase 1, Phase 2 XOMA 052
22 The Use of Kineret (Anakinra) in the Treatment of Familial Cold Urticaria Completed NCT00214851 Phase 1 Kineret (anakinra)
23 Vaccine Therapy in Treating Patients With Refractory Stage IV Cancer Completed NCT00057915 Phase 1
24 Cold Plasma for Wound Treatment, Safety Study Not yet recruiting NCT03007264 Phase 1
25 Vaccine Therapy With or Without Sargramostim in Treating Patients With Cancer Terminated NCT00009958 Phase 1
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 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Factors Completed NCT00933296
31 Simulation-based Training for Flexible Cystoscopy - a Patient Transfer Randomized Trial Completed NCT02411747
32 Targeting Sympathetic Overactivity in Heart Failure Patients With Statins Completed NCT01097785 Simvastatin;Placebo
33 Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) Patients Completed NCT01213641
34 Pathogenesis of Physical Induced Urticarial Syndromes Recruiting NCT00887939
35 Effect of Peer Mentoring and Blood Pressure Self-monitoring on Hypertension Control. Recruiting NCT03297229
36 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, Eye, Bone, Heart, Monocytes

Publications for Familial Cold Autoinflammatory Syndrome

Articles related to Familial Cold Autoinflammatory Syndrome:

(show all 22)
id Title Authors Year
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
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
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 CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome. ( 17333269 )
2008
11
New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes. ( 18174231 )
2008
12
Monocytes from familial cold autoinflammatory syndrome patients are activated by mild hypothermia. ( 17320940 )
2007
13
Response to IL-1-receptor antagonist in a child with familial cold autoinflammatory syndrome. ( 17300660 )
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
13.69 CASP1 IL18 IL1B IL1R1 NLRC4 NLRP3
2
Show member pathways
13.11 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
12.1 CASP1 IL1B IL1R1
9 11.84 IL1B IL1R1 PLCG2
10
Show member pathways
11.78 CASP1 NLRC4 NLRP3
11 11.77 IL18 IL1B SAA1
12
Show member pathways
11.75 IL18 IL1B IL1R1
13 11.66 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 11.17 IL18 IL1B
24 11.12 IL18 IL1B
25 10.92 CASP1 IL18 IL1B
26 10.89 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 apoptotic process GO:0006915 9.88 CASP1 IL1B NLRC4 NLRP3
2 inflammatory response GO:0006954 9.76 IL18 IL1B NLRC4 NLRP3
3 response to lipopolysaccharide GO:0032496 9.73 CASP1 IL1B PLCG2
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.69 IL1B NLRC4 NLRP3
5 positive regulation of interferon-gamma production GO:0032729 9.6 IL18 IL1B
6 cellular response to organic substance GO:0071310 9.59 CASP1 IL1B
7 lipopolysaccharide-mediated signaling pathway GO:0031663 9.58 IL18 IL1B
8 negative regulation of inflammatory response GO:0050728 9.58 NLRP12 NLRP3 SAA1
9 positive regulation of cytokine secretion GO:0050715 9.57 CASP1 SAA1
10 positive regulation of NF-kappaB import into nucleus GO:0042346 9.55 IL18 IL1B
11 response to ATP GO:0033198 9.52 CASP1 IL1B
12 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.49 IL1B NLRP12
13 regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043281 9.48 NLRC4 NLRP12
14 positive regulation of granulocyte macrophage colony-stimulating factor production GO:0032725 9.43 IL18 IL1B
15 regulation of inflammatory response GO:0050727 9.43 CASP1 IL1R1 NLRP3
16 pyroptosis GO:0070269 9.37 CASP1 NLRC4
17 positive regulation of interleukin-1 beta secretion GO:0050718 9.33 CASP1 NLRP12 NLRP3
18 positive regulation of T-helper 2 cell differentiation GO:0045630 9.32 IL18 NLRP3
19 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.3 NLRP3
20 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.26 CASP1 NLRC4 NLRP12 NLRP3
21 interleukin-1 beta production GO:0032611 8.8 CASP1 IL1B NLRP3
22 signal transduction GO:0007165 10.01 CASP1 IL1B IL1R1 NLRP12 NLRP3 PLCG2

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 8.62 CASP1 NLRP12

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
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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