MCID: FML052
MIFTS: 53

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 53 25 59 29 6 15
Familial Cold Urticaria 53 25 59 73
Fcas 53 25 59
Cold Hypersensitivity 25 73
Fcu 25 59
Familial Cold-Induced Autoinflammatory Syndrome 25
Familial Polymorphous Cold Eruption 53

Characteristics:

Orphanet epidemiological data:

59
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 59 ORPHA47045
UMLS via Orphanet 74 C0343068

Summaries for Familial Cold Autoinflammatory Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Familial Cold Autoinflammatory Syndrome, also known as familial cold urticaria, is related to familial cold autoinflammatory syndrome 2 and familial cold autoinflammatory syndrome 4. 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 Toll-like Receptor Signaling Pathway. The drugs Citalopram and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and amygdala, and related phenotypes are sensorineural hearing impairment and conjunctivitis

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

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 familial cold autoinflammatory syndrome 2 34.8 NLRP12 NLRP3
2 familial cold autoinflammatory syndrome 4 34.4 NLRC4 SLC30A6
3 familial cold autoinflammatory syndrome 1 33.3 CASP1 IL1B NLRP3
4 wells syndrome 30.2 IL1B NLRP3
5 muckle-wells syndrome 29.3 CASP1 IL1B NLRP3
6 familial cold autoinflammatory syndrome 3 12.6
7 cryopyrin-associated periodic syndrome 11.1
8 cold urticaria 10.5 NLRP3 PLCG2
9 vulvar vestibulitis syndrome 10.4 IL1B NLRP3
10 cervical adenitis 10.4 IL1B NLRP3
11 autoinflammation with infantile enterocolitis 10.3 NLRC4 SLC30A6
12 blau syndrome 10.3 IL1B NLRP3
13 aseptic meningitis 10.3 IL1B NLRP3
14 tinea favosa 10.2 CASP1 NLRP3
15 aphthous stomatitis 10.2 IL1B NLRP3
16 silicosis 10.1 IL1B NLRP3
17 pneumoconiosis 10.1 IL1B NLRP3
18 legionellosis 10.0 CASP1 NLRC4
19 amyloidosis 9.9
20 typhoid fever 9.8 CASP1 IL1B
21 systemic onset juvenile idiopathic arthritis 9.8 IL18 IL1B
22 uremic pruritus 9.7 IL18 IL1B
23 stachybotrys chartarum 9.7 IL18 IL1B
24 cysticercosis 9.7 IL18 IL1B
25 autoinflammation with arthritis and dyskeratosis 9.7 CASP1 IL18
26 chronic recurrent multifocal osteomyelitis 9.7 CASP1 IL1B NLRP3
27 adult-onset still's disease 9.6 IL18 IL1B
28 osteomyelitis 9.6 CASP1 IL1B
29 bone inflammation disease 9.6 IL1B NLRP3
30 lymphadenitis 9.5 IL18 IL1B
31 chlamydia 9.5 CASP1 IL1B
32 schnitzler syndrome 9.4 IL18 IL1B NLRP3
33 autoinflammation, lipodystrophy, and dermatosis syndrome 9.4 IL18 IL1B
34 pulmonary fibrosis, idiopathic 9.2 IL18 IL1B NLRC4
35 cinca syndrome 9.2 CASP1 IL1B NLRC4 NLRP3
36 familial mediterranean fever 9.1 CASP1 IL1B NLRP3 SAA1
37 arthritis 9.1 IL18 IL1B SAA1
38 salmonellosis 8.6 CASP1 IL18 IL1B 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:

59 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 59 Occasional (29-5%)
2 conjunctivitis 59 Occasional (29-5%)
3 hyperhidrosis 59 Very frequent (99-80%)
4 pruritus 59 Very frequent (99-80%)
5 urticaria 59 Very frequent (99-80%)
6 arthritis 59 Very frequent (99-80%)
7 dehydration 59 Occasional (29-5%)
8 fever 59 Very frequent (99-80%)
9 polydipsia 59 Occasional (29-5%)
10 nausea and vomiting 59 Frequent (79-30%)
11 abdominal pain 59 Occasional (29-5%)
12 headache 59 Frequent (79-30%)
13 arthralgia 59 Occasional (29-5%)
14 myalgia 59 Very frequent (99-80%)
15 erythema 59 Very frequent (99-80%)
16 fatigue 59 Very frequent (99-80%)
17 dysesthesia 59 Very frequent (99-80%)

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

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.8 CASP1 IL18 IL1B NLRC4 NLRP12 NLRP3
2 homeostasis/metabolism MP:0005376 9.7 IL1B NLRP12 NLRP3 PLCG2 SAA1 CASP1
3 immune system MP:0005387 9.5 CASP1 IL18 IL1B NLRC4 NLRP12 NLRP3
4 integument MP:0010771 9.02 CASP1 IL18 IL1B NLRP3 PLCG2

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 67)
# 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
Topiramate Approved Phase 4 97240-79-4 5284627
5
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
6
Ginseng Approved, Investigational, Nutraceutical Phase 4 50647-08-0
7 Complement C3 Phase 4
8 Retinol palmitate Phase 4
9 Analgesics Phase 4
10 Antidepressive Agents Phase 4
11 Antidepressive Agents, Second-Generation Phase 4
12 Dopamine Agents Phase 4
13 Duloxetine Hydrochloride Phase 4
14 Neurotransmitter Agents Phase 4
15 Neurotransmitter Uptake Inhibitors Phase 4
16 Peripheral Nervous System Agents Phase 4,Phase 1,Phase 2
17 Psychotropic Drugs Phase 4
18 Serotonin Agents Phase 4
19 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
20 Serotonin Uptake Inhibitors Phase 4
21 CHI3L1 protein, human Phase 4
22 Anticonvulsants Phase 4
23 Anti-Obesity Agents Phase 4
24 Neuroprotective Agents Phase 4
25 Protective Agents Phase 4
26 Omega 3 Fatty Acid Nutraceutical Phase 4
27 retinol Nutraceutical Phase 4
28
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
29 Antibodies Phase 3
30 Antibodies, Monoclonal Phase 3
31 Immunoglobulins Phase 3
32 Vaccines Phase 3,Phase 1,Phase 2
33 Juzentaihoto Phase 2, Phase 3
34 Mitogens Phase 2, Phase 3
35
Pancrelipase Approved, Investigational Phase 1, Phase 2,Phase 2 53608-75-6
36
Fluorouracil Approved Phase 1, Phase 2 51-21-8 3385
37
Lidocaine Approved, Vet_approved Phase 1, Phase 2 137-58-6 3676
38
Oxaliplatin Approved, Investigational Phase 1, Phase 2 61825-94-3 5310940 9887054 43805 6857599
39
leucovorin Approved, Nutraceutical Phase 1, Phase 2 58-05-9 143 6006
40 pancreatin Phase 1, Phase 2,Phase 2
41 Interleukin 1 Receptor Antagonist Protein Phase 2,Phase 1
42 Anesthetics Phase 1, Phase 2
43 Anesthetics, Local Phase 1, Phase 2
44 Anti-Arrhythmia Agents Phase 1, Phase 2
45 Central Nervous System Depressants Phase 1, Phase 2
46 Diuretics, Potassium Sparing Phase 1, Phase 2
47 Pharmaceutical Solutions Phase 1, Phase 2
48 Sodium Channel Blockers Phase 1, Phase 2
49 Adjuvants, Immunologic Phase 2
50 Freund's Adjuvant Phase 2

Interventional clinical trials:

(show all 42)
# 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 The Effect of n-3 Fatty Acid Supplementation on Serum Levels, and Gene Expression of type2 Diabetes Patient Unknown status NCT02261545 Phase 4
3 Trial for Antidepressant Treatment for Negative Symptom of Schizophrenia With NRG1 Risk Genotype Unknown status NCT01078870 Phase 4 Lexapro;Cymbalta;Placebo
4 Effect of Korean Red Ginseng on Women With Cold Hypersensitivity of Hands and Feet Completed NCT01664156 Phase 4 Korean red ginseng;Placebo
5 Efficacy and Safety of Danggui-Sayuk-Ga-Osuyu-Saenggang-tang on Korean Patients With Cold Hypersensitivity in the Hands Completed NCT02645916 Phase 4 Danggui-Sayuk-Ga-Osuyu-Saenggang-tang;Placebo: corn starch
6 Assessing the Effects of Omega-3 Supplementation on Some Serum BDNF، Follistatin، Irisin Levels in Men With CAD Completed NCT02382471 Phase 4
7 Assessing the Effects of Omega-3 Supplementation on Serum HSP27, HSP70, YKL40, BMP-4 Levels in Male Patient With CAD Completed NCT02117960 Phase 4
8 Effect of Omega-3 Supplementation on Serum Level and Gene Expression of IGF-1and IGFBP-3 in Men With CVD. Completed NCT02092584 Phase 4
9 Placebo Controled Clinical Trial Using Topiramate To Treat Posttraumatic Stress Disorder (PTSD) Patients. Completed NCT00725920 Phase 4 Topiramate;placebo control group
10 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)
11 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
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 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
14 Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS) Completed NCT00288704 Phase 3 rilonacept 160 mg;Placebo;rilonacept 160 mg
15 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)
16 Efficacy and Safety of Ojeok-san on Korean Patients With Cold Hypersensitivity in the Hands and Feet Recruiting NCT03083522 Phase 3 Ojeok-San;Placebo
17 Efficacy and Safety of Sipjeondaebo-tang on Korean Patients With Cold Hypersensitivity in the Hands and Feet (SDT) Recruiting NCT03374345 Phase 2, Phase 3 Sipjeondaebo-tang Granule;Placebo
18 A Study of Canakinumab in Patients With Systemic Juvenile Idiopathic Arthritis or Hereditary Periodic Fevers Who Participated in the CACZ885G2301E1, CACZ885G2306 or CACZ885N2301 Studies Active, not recruiting NCT02334748 Phase 3 canakinumab
19 Study of CAP1-6D in Patients With Locally Advanced or Surgically Resected Pancreatic Adenocarcinoma Completed NCT00203892 Phase 1, Phase 2
20 Interleukin-1 Trap to Treat Autoinflammatory Diseases Completed NCT00094900 Phase 2 IL-1 Trap
21 Lidocaine for Oxaliplatin-induced Neuropathy Recruiting NCT03254394 Phase 1, Phase 2 Lidocaine Hydrochloride;Placebo;FOLFOX regimen
22 Vaccine Therapy in Treating Patients With Cancer of the Gastrointestinal Tract Terminated NCT00012246 Phase 2
23 HL2351 CAPS Phase II Study Terminated NCT02853084 Phase 2 HL2351
24 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
25 The Use of Kineret (Anakinra) in the Treatment of Familial Cold Urticaria Completed NCT00214851 Phase 1 Kineret (anakinra)
26 Vaccine Therapy in Treating Patients With Refractory Stage IV Cancer Completed NCT00057915 Phase 1
27 Cold Plasma for Wound Treatment, Safety Study Recruiting NCT03007264 Phase 1
28 Vaccine Therapy With or Without Sargramostim in Treating Patients With Cancer Terminated NCT00009958 Phase 1
29 Efficacy of Yoga for Treatment-Resistant Posttraumatic Stress Disorder Unknown status NCT00839813 Not Applicable
30 The CAP-1 Trial: Stepwise Excavation Versus One Completed Excavation in Deep Caries Completed NCT00187837 Not Applicable
31 The CAP-2 Trial: Effect of Direct Pulp Capping Versus Partial Pulpotomy Completed NCT00187850 Not Applicable
32 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Factors Completed NCT00933296
33 Simulation-based Training for Flexible Cystoscopy - a Patient Transfer Randomized Trial Completed NCT02411747 Not Applicable
34 Targeting Sympathetic Overactivity in Heart Failure Patients With Statins Completed NCT01097785 Not Applicable Simvastatin;Placebo
35 Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) Patients Completed NCT01213641
36 Pathogenesis of Physical Induced Urticarial Syndromes Recruiting NCT00887939
37 Effect of Peer Mentoring and Blood Pressure Self-monitoring on Hypertension Control. Recruiting NCT03297229 Not Applicable
38 Chitosan Nerv Tube for Primary Repair of Traumatic Sensory Nerve Lesions of the Hand Recruiting NCT02372669 Not Applicable
39 Cochlear Implants Registry in Thailand Project Active, not recruiting NCT02830659
40 Does the Cap Increase the Finding of Polyps When Water Exchange Colonoscopy is Used Not yet recruiting NCT03566615 Not Applicable
41 Cap Assisted Balloon Enteroscopy Versus Conventional Balloon Enteroscopy In The Evaluation Of Obscure Gastrointestinal Bleeding: A Randomized Controlled Trial Terminated NCT02315404 Not Applicable
42 A Pilot Study of Deep Brain Stimulation of the Amygdala for Treatment-Refractory Combat Post-Traumatic Stress Disorder Withdrawn NCT01658748 Not Applicable

Search NIH Clinical Center for Familial Cold Autoinflammatory Syndrome

Genetic Tests for Familial Cold Autoinflammatory Syndrome

Genetic tests related to Familial Cold Autoinflammatory Syndrome:

# 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:

41
Skin, Eye, Amygdala, Heart, Brain, Bone, Monocytes

Publications for Familial Cold Autoinflammatory Syndrome

Articles related to Familial Cold Autoinflammatory Syndrome:

(show all 22)
# 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
Two pathogenic CIAS1 mutations and plasma cytokine profile in a Finnish patient with familial cold autoinflammatory syndrome responsive to anakinra. ( 18189199 )
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
Use of anakinra (Kineret) in the treatment of familial cold autoinflammatory syndrome with a 16-month follow-up. ( 18258152 )
2008
10
New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes. ( 18174231 )
2008
11
A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome. ( 17333269 )
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
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
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. ( 11687797 )
2001
22
Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. ( 11590390 )
2001

Variations for Familial Cold Autoinflammatory Syndrome

ClinVar genetic disease variations for Familial Cold Autoinflammatory Syndrome:

6
(show top 50) (show all 288)
# 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.1316C> T (p.Ala439Val) single nucleotide variant Pathogenic rs121908146 GRCh38 Chromosome 1, 247424765: 247424765
3 NLRP3 NM_001243133.1(NLRP3): c.1880A> G (p.Glu627Gly) single nucleotide variant Pathogenic rs121908148 GRCh37 Chromosome 1, 247588631: 247588631
4 NLRP3 NM_001243133.1(NLRP3): c.1880A> G (p.Glu627Gly) single nucleotide variant Pathogenic rs121908148 GRCh38 Chromosome 1, 247425329: 247425329
5 NLRP3 NM_001243133.1(NLRP3): c.1055C> T (p.Ala352Val) single nucleotide variant Pathogenic rs121908149 GRCh37 Chromosome 1, 247587806: 247587806
6 NLRP3 NM_001243133.1(NLRP3): c.1055C> T (p.Ala352Val) single nucleotide variant Pathogenic rs121908149 GRCh38 Chromosome 1, 247424504: 247424504
7 NLRP3 NM_001243133.1(NLRP3): c.778C> T (p.Arg260Trp) single nucleotide variant Pathogenic rs121908150 GRCh37 Chromosome 1, 247587529: 247587529
8 NLRP3 NM_001243133.1(NLRP3): c.778C> T (p.Arg260Trp) single nucleotide variant Pathogenic rs121908150 GRCh38 Chromosome 1, 247424227: 247424227
9 NLRP3 NM_001243133.1(NLRP3): c.1705G> C (p.Gly569Arg) single nucleotide variant Pathogenic rs121908151 GRCh37 Chromosome 1, 247588456: 247588456
10 NLRP3 NM_001243133.1(NLRP3): c.1705G> C (p.Gly569Arg) single nucleotide variant Pathogenic rs121908151 GRCh38 Chromosome 1, 247425154: 247425154
11 NLRP3 NM_001243133.1(NLRP3): c.1718T> C (p.Phe573Ser) single nucleotide variant Pathogenic rs121908152 GRCh37 Chromosome 1, 247588469: 247588469
12 NLRP3 NM_001243133.1(NLRP3): c.1718T> C (p.Phe573Ser) single nucleotide variant Pathogenic rs121908152 GRCh38 Chromosome 1, 247425167: 247425167
13 NLRP3 NM_001243133.1(NLRP3): c.907G> A (p.Asp303Asn) single nucleotide variant Pathogenic rs121908153 GRCh37 Chromosome 1, 247587658: 247587658
14 NLRP3 NM_001243133.1(NLRP3): c.907G> A (p.Asp303Asn) single nucleotide variant Pathogenic rs121908153 GRCh38 Chromosome 1, 247424356: 247424356
15 NLRP3 NM_001243133.1(NLRP3): c.926T> C (p.Phe309Ser) single nucleotide variant Pathogenic rs121908154 GRCh37 Chromosome 1, 247587677: 247587677
16 NLRP3 NM_001243133.1(NLRP3): c.926T> C (p.Phe309Ser) single nucleotide variant Pathogenic rs121908154 GRCh38 Chromosome 1, 247424375: 247424375
17 NLRP3 NM_001243133.1(NLRP3): c.1058T> C (p.Leu353Pro) single nucleotide variant Pathogenic rs28937896 GRCh37 Chromosome 1, 247587809: 247587809
18 NLRP3 NM_001243133.1(NLRP3): c.1058T> C (p.Leu353Pro) single nucleotide variant Pathogenic rs28937896 GRCh38 Chromosome 1, 247424507: 247424507
19 NLRP3 NM_001243133.1(NLRP3): c.1043C> T (p.Thr348Met) single nucleotide variant Pathogenic rs151344629 GRCh37 Chromosome 1, 247587794: 247587794
20 NLRP3 NM_001243133.1(NLRP3): c.1043C> T (p.Thr348Met) single nucleotide variant Pathogenic rs151344629 GRCh38 Chromosome 1, 247424492: 247424492
21 NLRP3 NM_001243133.1(NLRP3): c.1213A> C (p.Thr405Pro) single nucleotide variant Pathogenic rs180177445 GRCh37 Chromosome 1, 247587964: 247587964
22 NLRP3 NM_001243133.1(NLRP3): c.1213A> C (p.Thr405Pro) single nucleotide variant Pathogenic rs180177445 GRCh38 Chromosome 1, 247424662: 247424662
23 NLRP3 NM_001243133.1(NLRP3): c.1306A> G (p.Thr436Ala) single nucleotide variant Likely pathogenic rs180177465 GRCh37 Chromosome 1, 247588057: 247588057
24 NLRP3 NM_001243133.1(NLRP3): c.1306A> G (p.Thr436Ala) single nucleotide variant Likely pathogenic rs180177465 GRCh38 Chromosome 1, 247424755: 247424755
25 NLRP3 NM_001243133.1(NLRP3): c.2576A> G (p.Tyr859Cys) single nucleotide variant Pathogenic rs180177452 GRCh37 Chromosome 1, 247599355: 247599355
26 NLRP3 NM_001243133.1(NLRP3): c.2576A> G (p.Tyr859Cys) single nucleotide variant Pathogenic rs180177452 GRCh38 Chromosome 1, 247436053: 247436053
27 NLRP3 NM_001243133.1(NLRP3): c.910G> A (p.Glu304Lys) single nucleotide variant Pathogenic rs180177484 GRCh37 Chromosome 1, 247587661: 247587661
28 NLRP3 NM_001243133.1(NLRP3): c.910G> A (p.Glu304Lys) single nucleotide variant Pathogenic rs180177484 GRCh38 Chromosome 1, 247424359: 247424359
29 NLRP3 NM_001243133.1(NLRP3): c.914T> C (p.Leu305Pro) single nucleotide variant Likely pathogenic rs180177431 GRCh37 Chromosome 1, 247587665: 247587665
30 NLRP3 NM_001243133.1(NLRP3): c.914T> C (p.Leu305Pro) single nucleotide variant Likely pathogenic rs180177431 GRCh38 Chromosome 1, 247424363: 247424363
31 NLRP3 NM_001243133.1(NLRP3): c.1020C> T (p.Pro340=) single nucleotide variant Benign/Likely benign rs41311573 GRCh38 Chromosome 1, 247424469: 247424469
32 NLRP3 NM_001243133.1(NLRP3): c.1020C> T (p.Pro340=) single nucleotide variant Benign/Likely benign rs41311573 GRCh37 Chromosome 1, 247587771: 247587771
33 NLRP3 NM_004895.4(NLRP3): c.749A> G (p.Gln250Arg) single nucleotide variant Uncertain significance rs876660971 GRCh38 Chromosome 1, 247424192: 247424192
34 NLRP3 NM_004895.4(NLRP3): c.749A> G (p.Gln250Arg) single nucleotide variant Uncertain significance rs876660971 GRCh37 Chromosome 1, 247587494: 247587494
35 NLRP3 NM_004895.4(NLRP3): c.2182A> G (p.Ser728Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs147946775 GRCh37 Chromosome 1, 247592912: 247592912
36 NLRP3 NM_004895.4(NLRP3): c.2182A> G (p.Ser728Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs147946775 GRCh38 Chromosome 1, 247429610: 247429610
37 NLRP3 NM_004895.4(NLRP3): c.2767A> G (p.Thr923Ala) single nucleotide variant Uncertain significance rs200089542 GRCh38 Chromosome 1, 247444069: 247444069
38 NLRP3 NM_004895.4(NLRP3): c.2767A> G (p.Thr923Ala) single nucleotide variant Uncertain significance rs200089542 GRCh37 Chromosome 1, 247607371: 247607371
39 NLRP3 NM_004895.4(NLRP3): c.2861C> T (p.Thr954Met) single nucleotide variant Conflicting interpretations of pathogenicity rs139814109 GRCh37 Chromosome 1, 247607973: 247607973
40 NLRP3 NM_004895.4(NLRP3): c.2861C> T (p.Thr954Met) single nucleotide variant Conflicting interpretations of pathogenicity rs139814109 GRCh38 Chromosome 1, 247444671: 247444671
41 NLRP3 NM_004895.4(NLRP3): c.214G> A (p.Val72Met) single nucleotide variant Benign/Likely benign rs117287351 GRCh38 Chromosome 1, 247419008: 247419008
42 NLRP3 NM_004895.4(NLRP3): c.214G> A (p.Val72Met) single nucleotide variant Benign/Likely benign rs117287351 GRCh37 Chromosome 1, 247582310: 247582310
43 NLRP3 NM_004895.4(NLRP3): c.663C> T (p.Thr221=) single nucleotide variant Benign rs7525979 GRCh37 Chromosome 1, 247587408: 247587408
44 NLRP3 NM_004895.4(NLRP3): c.663C> T (p.Thr221=) single nucleotide variant Benign rs7525979 GRCh38 Chromosome 1, 247424106: 247424106
45 NLRP3 NM_004895.4(NLRP3): c.1308C> T (p.Ser436=) single nucleotide variant Benign rs34298354 GRCh37 Chromosome 1, 247588053: 247588053
46 NLRP3 NM_004895.4(NLRP3): c.1308C> T (p.Ser436=) single nucleotide variant Benign rs34298354 GRCh38 Chromosome 1, 247424751: 247424751
47 NLRP3 NM_004895.4(NLRP3): c.2113C> A (p.Gln705Lys) single nucleotide variant Benign rs35829419 GRCh37 Chromosome 1, 247588858: 247588858
48 NLRP3 NM_004895.4(NLRP3): c.2113C> A (p.Gln705Lys) single nucleotide variant Benign rs35829419 GRCh38 Chromosome 1, 247425556: 247425556
49 NLRP12 NM_144687.3(NLRP12): c.2469C> T (p.Leu823=) single nucleotide variant Benign rs12460528 GRCh38 Chromosome 19, 53804068: 53804068
50 NLRP12 NM_144687.3(NLRP12): c.2469C> T (p.Leu823=) single nucleotide variant Benign rs12460528 GRCh37 Chromosome 19, 54307322: 54307322

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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 CASP1 IL18 IL1B NLRC4 NLRP3 PLCG2
2
Show member pathways
12.65 CASP1 IL18 IL1B NLRC4 NLRP12 NLRP3
3
Show member pathways
12.53 CASP1 IL18 IL1B NLRP3
4
Show member pathways
12.49 CASP1 IL18 IL1B SAA1
5
Show member pathways
11.97 CASP1 IL1B NLRP3 PLCG2
6
Show member pathways
11.96 CASP1 IL1B NLRP3
7
Show member pathways
11.79 CASP1 IL18 IL1B PLCG2
8
Show member pathways
11.75 CASP1 NLRC4 NLRP3
9 11.73 IL18 IL1B SAA1
10 11.51 CASP1 IL1B NLRP3
11 11.49 CASP1 IL18 IL1B NLRC4
12 11.29 IL18 IL1B
13 11.28 IL18 IL1B
14 11.27 IL18 IL1B
15 11.2 CASP1 IL18 IL1B NLRC4
16 11.12 IL18 IL1B
17 11.06 IL18 IL1B
18 10.98 IL18 IL1B NLRP3
19 10.89 CASP1 IL18 IL1B
20 10.71 CASP1 IL18 IL1B NLRC4 NLRP12 NLRP3
21 9.98 CASP1 IL18 IL1B

GO Terms for Familial Cold Autoinflammatory Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 NLRP3 inflammasome complex GO:0072559 8.96 CASP1 NLRP3
2 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 31)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.92 CASP1 IL1B NLRC4 NLRP3
2 innate immune response GO:0045087 9.87 NLRC4 NLRP12 NLRP3 SAA1
3 regulation of gene expression GO:0010468 9.8 NLRP12 NLRP3 PLCG2
4 response to lipopolysaccharide GO:0032496 9.76 CASP1 IL1B PLCG2
5 cytokine-mediated signaling pathway GO:0019221 9.76 CASP1 IL18 IL1B SAA1
6 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.72 IL1B NLRC4 NLRP3
7 negative regulation of inflammatory response GO:0050728 9.67 NLRP12 NLRP3 SAA1
8 cellular response to cytokine stimulus GO:0071345 9.65 CASP1 NLRP12
9 regulation of cytokine production GO:0001817 9.65 NLRP12 NLRP3
10 regulation of inflammatory response GO:0050727 9.65 CASP1 NLRP12 NLRP3
11 inflammatory response GO:0006954 9.65 IL18 IL1B NLRC4 NLRP12 NLRP3
12 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.64 CASP1 NLRP3
13 positive regulation of interferon-gamma production GO:0032729 9.64 IL18 IL1B
14 cellular response to organic substance GO:0071310 9.63 CASP1 IL1B
15 signaling GO:0023052 9.63 NLRP12 NLRP3
16 response to bacterium GO:0009617 9.61 CASP1 NLRP3
17 lipopolysaccharide-mediated signaling pathway GO:0031663 9.61 IL18 IL1B
18 negative regulation of immune response GO:0050777 9.6 NLRP12 NLRP3
19 positive regulation of cytokine secretion GO:0050715 9.59 CASP1 SAA1
20 negative regulation of NIK/NF-kappaB signaling GO:1901223 9.58 NLRP12 NLRP3
21 response to ATP GO:0033198 9.56 CASP1 IL1B
22 regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043281 9.54 NLRC4 NLRP12
23 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.54 IL18 IL1B NLRP12
24 pyroptosis GO:0070269 9.52 CASP1 NLRC4
25 positive regulation of granulocyte macrophage colony-stimulating factor production GO:0032725 9.51 IL18 IL1B
26 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.5 IL1B NLRP12 NLRP3
27 positive regulation of T-helper 2 cell differentiation GO:0045630 9.43 IL18 NLRP3
28 interleukin-6 production GO:0032635 9.4 IL18 IL1B
29 positive regulation of interleukin-1 beta secretion GO:0050718 9.33 CASP1 NLRP12 NLRP3
30 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.26 CASP1 NLRC4 NLRP12 NLRP3
31 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:

# 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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