FCAS1
MCID: FML116
MIFTS: 59

Familial Cold Autoinflammatory Syndrome 1 (FCAS1)

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

Aliases & Classifications for Familial Cold Autoinflammatory Syndrome 1

MalaCards integrated aliases for Familial Cold Autoinflammatory Syndrome 1:

Name: Familial Cold Autoinflammatory Syndrome 1 57 12 75
Cold Hypersensitivity 57 75 55 73
Cold-Induced Autoinflammatory Syndrome, Familial 57 13
Cryopyrin-Associated Periodic Syndrome 1 57 75
Familial Cold Urticaria 75 73
Fcas1 57 75
Caps1 57 75
Fcas 57 75
Fcu 57 75
Autoinflammatory Syndrome, Cold, Familial, Type 1 40
Cryopyrin-Associated Periodic Syndrome 1; Caps1 57
Familial Cold-Induced Autoinflammatory Syndrome 75
Familial Cold Inflammatory Syndrome 1 57
Cold Urticaria, Familial; Fcu 57
Cold Urticaria, Familial 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or early childhood
episodes occur 30 minutes to 3 hours after exposure to cold
episodes usually last 1 to 2 days
see also muckle-wells syndrome , an allelic disorder with overlapping features


HPO:

32
familial cold autoinflammatory syndrome 1:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Familial Cold Autoinflammatory Syndrome 1

OMIM : 57 Familial cold autoinflammatory syndrome is characterized clinically by recurrent attacks of a maculopapular rash associated with arthralgias, myalgias, fever and chills, and swelling of the extremities after exposure to cold. Despite the first description of 'cold urticaria' (Kile and Rusk, 1940) the rash in most patients is nonpruritic and nonurticarial. Rarely, some patients may also develop late-onset renal amyloidosis (Hoffman et al., 2000). Overlapping syndromes also caused by mutation in the NLRP3 gene include Muckle-Wells syndrome (CAPS2; 191900), which has a high frequency of amyloidosis and late-onset sensorineural deafness, and chronic neurologic cutaneous and articular syndrome (CINCA, CAPS3; 607115), which shows earlier onset and a more severe phenotype. (120100)

MalaCards based summary : Familial Cold Autoinflammatory Syndrome 1, also known as cold hypersensitivity, is related to familial cold autoinflammatory syndrome and cryopyrin-associated periodic syndrome. An important gene associated with Familial Cold Autoinflammatory Syndrome 1 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 Mineral oil and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and testes, and related phenotypes are hyperhidrosis and nausea and vomiting

Disease Ontology : 12 A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the NLRP gene on chromosome 1q44.

UniProtKB/Swiss-Prot : 75 Familial cold autoinflammatory syndrome 1: A rare autosomal dominant systemic inflammatory disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold. Rarely, some patients may also develop late-onset renal amyloidosis.

Related Diseases for Familial Cold Autoinflammatory Syndrome 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 familial cold autoinflammatory syndrome 32.4 NLRP3 IL1B CASP1
2 cryopyrin-associated periodic syndrome 32.2 NLRP3 IL1R1
3 cinca syndrome 30.9 NLRP3 MEFV IL1R1 IL1B CASP1
4 muckle-wells syndrome 30.4 TNFRSF1A NLRP3 MEFV IL1R1 IL1B CASP1
5 cold urticaria 30.4 NLRP3 IL1R1
6 periodic fever, familial, autosomal dominant 29.8 TNFRSF1A NLRP3 MEFV
7 familial mediterranean fever 29.2 TNFRSF1A NLRP3 MEFV IL1B CASP1
8 wells syndrome 29.0 TNFRSF1A NLRP3 MEFV IL1R1 IL1B
9 familial cold autoinflammatory syndrome 2 11.1
10 familial cold autoinflammatory syndrome 3 11.1
11 allergic hypersensitivity disease 10.3
12 urticaria 10.2
13 psoriatic juvenile idiopathic arthritis 10.1 NLRP3 MEFV
14 erysipeloid 10.1 NLRP3 MEFV
15 meningitis 10.1 NLRP3 IL1B
16 inclusion body myositis 10.1
17 myositis 10.1
18 stomatitis 10.1 MEFV IL1B
19 tinea favosa 10.1 NLRP3 CASP1
20 hydrarthrosis 10.1 MEFV IL1B
21 typhoid fever 10.1 IL1B CASP1
22 silicosis 10.1 NLRP3 IL1B
23 pharyngitis 10.1 MEFV IL1B
24 pneumoconiosis 10.1 NLRP3 IL1B
25 alcoholic gastritis 10.1 IL1B CASP1
26 pyoderma 10.1 MEFV IL1R1
27 bone inflammation disease 10.0 NLRP3 IL1B
28 alzheimer disease 10.0
29 primary bacterial infectious disease 10.0 MEFV IL1B
30 legionellosis 10.0 IL1B CASP1
31 salmonellosis 10.0 IL1B CASP1
32 sickle cell disease 10.0
33 chlamydia 10.0 IL1B CASP1
34 joint disorders 10.0 IL1R1 IL1B
35 peritonitis 10.0 MEFV IL1B
36 gout 10.0 NLRP3 IL1B
37 immune system disease 10.0 MEFV IL1B
38 intermittent hydrarthrosis 10.0 TNFRSF1A MEFV
39 chorioamnionitis 10.0 IL1R1 IL1B
40 inflammatory myopathy with abundant macrophages 10.0 TNFRSF1A MEFV
41 short-rib thoracic dysplasia 5 with or without polydactyly 10.0 TNFRSF1A NLRP3
42 idiopathic recurrent pericarditis 10.0 TNFRSF1A MEFV
43 conjunctival disease 10.0 TNFRSF1A NLRP3
44 pericardial effusion 10.0 TNFRSF1A NLRP3
45 relapsing fever 10.0 TNFRSF1A MEFV
46 juvenile rheumatoid arthritis 9.9 IL1R1 IL1B
47 cervical adenitis 9.9 NLRP3 MEFV IL1B
48 blau syndrome 9.9 NLRP3 MEFV IL1B
49 aphthous stomatitis 9.9 NLRP3 MEFV IL1B
50 pericoronitis 9.9 TNFRSF1A IL1B

Graphical network of the top 20 diseases related to Familial Cold Autoinflammatory Syndrome 1:



Diseases related to Familial Cold Autoinflammatory Syndrome 1

Symptoms & Phenotypes for Familial Cold Autoinflammatory Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
conjunctivitis

Skeletal:
arthralgia, episodic

Muscle Soft Tissue:
myalgia, episodic
swelling of the extremities, episodic

Metabolic Features:
fever, episodic

Genitourinary Kidneys:
renal amyloidosis, late-onset (uncommon)

Skin Nails Hair Skin:
maculopapular rash, episodic
rash may or may not be pruritic

Neurologic Central Nervous System:
headache, episodic

Laboratory Abnormalities:
polymorphonuclear leukocytosis, episodic
increased serum c-reactive protein, episodic


Clinical features from OMIM:

120100

Human phenotypes related to Familial Cold Autoinflammatory Syndrome 1:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 32 hallmark (90%) HP:0000975
2 nausea and vomiting 32 frequent (33%) HP:0002017
3 arthritis 32 hallmark (90%) HP:0001369
4 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
5 dehydration 32 occasional (7.5%) HP:0001944
6 fever 32 hallmark (90%) HP:0001945
7 polydipsia 32 occasional (7.5%) HP:0001959
8 fatigue 32 hallmark (90%) HP:0012378
9 arthralgia 32 occasional (7.5%) HP:0002829
10 abdominal pain 32 occasional (7.5%) HP:0002027
11 pruritus 32 hallmark (90%) HP:0000989
12 myalgia 32 hallmark (90%) HP:0003326
13 leukocytosis 32 HP:0001974
14 erythema 32 hallmark (90%) HP:0010783
15 conjunctivitis 32 occasional (7.5%) HP:0000509
16 urticaria 32 hallmark (90%) HP:0001025
17 headache 32 frequent (33%) HP:0002315
18 episodic fever 32 HP:0001954
19 dysesthesia 32 hallmark (90%) HP:0012534
20 renal amyloidosis 32 occasional (7.5%) HP:0001917

GenomeRNAi Phenotypes related to Familial Cold Autoinflammatory Syndrome 1 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 9.53 CASP1 IL1B NLRP3 TNFRSF1A
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.53 CASP1 IL1B NLRP3 TNFRSF1A

MGI Mouse Phenotypes related to Familial Cold Autoinflammatory Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.93 CASP1 IL1B IL1R1 MEFV NLRP3 TNFRSF1A
2 homeostasis/metabolism MP:0005376 9.91 CASP1 IL1B IL1R1 MEFV NLRP3 TNFRSF1A
3 immune system MP:0005387 9.88 CASP1 IL1B IL1R1 MEFV NLRP3 TNFRSF1A
4 integument MP:0010771 9.85 CASP1 IL1B IL1R1 MEFV NLRP3 TNFRSF1A
5 mortality/aging MP:0010768 9.73 CASP1 IL1B IL1R1 MEFV NLRP3 TNFRSF1A
6 liver/biliary system MP:0005370 9.62 IL1R1 MEFV NLRP3 TNFRSF1A
7 neoplasm MP:0002006 9.46 CASP1 IL1B IL1R1 TNFRSF1A
8 renal/urinary system MP:0005367 9.26 CASP1 IL1R1 NLRP3 TNFRSF1A
9 skeleton MP:0005390 9.02 IL1B IL1R1 MEFV NLRP3 TNFRSF1A

Drugs & Therapeutics for Familial Cold Autoinflammatory Syndrome 1

Drugs for Familial Cold Autoinflammatory Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mineral oil Approved, Vet_approved Phase 4 8042-47-5
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Norepinephrine Approved Phase 4 51-41-2 439260
4
Citalopram Approved Phase 4 59729-33-8 2771
5
Topiramate Approved Phase 4 97240-79-4 5284627
6
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
7 Retinol palmitate Phase 4
8 Omega 3 Fatty Acid Phase 4
9 retinol Phase 4
10 Complement C3 Phase 4
11 Dopamine Agents Phase 4
12 Duloxetine Hydrochloride Phase 4
13 Neurotransmitter Agents Phase 4
14 Psychotropic Drugs Phase 4
15 Antidepressive Agents, Second-Generation Phase 4
16 Antidepressive Agents Phase 4
17 Peripheral Nervous System Agents Phase 4
18 Serotonin Uptake Inhibitors Phase 4
19 Serotonin Agents Phase 4
20 Neurotransmitter Uptake Inhibitors Phase 4
21 Analgesics Phase 4
22 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
23 CHI3L1 protein, human Phase 4
24 Protective Agents Phase 4
25 Anticonvulsants Phase 4
26 Anti-Obesity Agents Phase 4
27 Neuroprotective Agents Phase 4
28
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
29
Pancrelipase Approved, Investigational Phase 1, Phase 2,Phase 2 53608-75-6
30 Immunologic Factors Phase 1, Phase 2,Phase 2
31 Vaccines Phase 1, Phase 2,Phase 2
32 pancreatin Phase 1, Phase 2,Phase 2
33 Freund's Adjuvant Phase 2
34 Cola Phase 2,Not Applicable
35 Adjuvants, Immunologic Phase 2
36
Metronidazole Approved Phase 1 443-48-1 4173
37 Antiparasitic Agents Phase 1
38 Antiprotozoal Agents Phase 1
39 Anti-Infective Agents Phase 1
40
Simvastatin Approved Not Applicable 79902-63-9 54454
41
Nicotine Approved Not Applicable 54-11-5 942 89594
42 Calamus Not Applicable
43 Hypolipidemic Agents Not Applicable
44 Anticholesteremic Agents Not Applicable
45 Antimetabolites Not Applicable
46 Hydroxymethylglutaryl-CoA Reductase Inhibitors Not Applicable
47 Lipid Regulating Agents Not Applicable

Interventional clinical trials:

(show all 22)
# 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 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 Placebo Controled Clinical Trial Using Topiramate To Treat Posttraumatic Stress Disorder (PTSD) Patients. Completed NCT00725920 Phase 4 Topiramate;placebo control group
8 Study of CAP1-6D in Patients With Locally Advanced or Surgically Resected Pancreatic Adenocarcinoma Completed NCT00203892 Phase 1, Phase 2
9 Vaccine Therapy in Treating Patients With Cancer of the Gastrointestinal Tract Terminated NCT00012246 Phase 2
10 Vaccine Therapy in Treating Patients With Refractory Stage IV Cancer Completed NCT00057915 Phase 1
11 Vaccine Therapy With or Without Sargramostim in Treating Patients With Cancer Terminated NCT00009958 Phase 1
12 Cold Plasma for Wound Treatment, Safety Study Completed NCT03007264 Phase 1
13 Efficacy of Yoga for Treatment-Resistant Posttraumatic Stress Disorder Unknown status NCT00839813 Not Applicable
14 The CAP-1 Trial: Stepwise Excavation Versus One Completed Excavation in Deep Caries Completed NCT00187837 Not Applicable
15 The CAP-2 Trial: Effect of Direct Pulp Capping Versus Partial Pulpotomy Completed NCT00187850 Not Applicable
16 Does the Cap Increase the Finding of Polyps When Water Exchange Colonoscopy is Used Recruiting NCT03566615 Not Applicable
17 Cochlear Implants Registry in Thailand Project Active, not recruiting NCT02830659
18 Cap Assisted Balloon Enteroscopy Versus Conventional Balloon Enteroscopy In The Evaluation Of Obscure Gastrointestinal Bleeding: A Randomized Controlled Trial Terminated NCT02315404 Not Applicable
19 A Pilot Study of Deep Brain Stimulation of the Amygdala for Treatment-Refractory Combat Post-Traumatic Stress Disorder Withdrawn NCT01658748 Not Applicable
20 Simulation-based Training for Flexible Cystoscopy - a Patient Transfer Randomized Trial Completed NCT02411747 Not Applicable
21 Targeting Sympathetic Overactivity in Heart Failure Patients With Statins Completed NCT01097785 Not Applicable Simvastatin;Placebo
22 Effect of Peer Mentoring and Blood Pressure Self-monitoring on Hypertension Control. Recruiting NCT03297229 Not Applicable

Search NIH Clinical Center for Familial Cold Autoinflammatory Syndrome 1

Genetic Tests for Familial Cold Autoinflammatory Syndrome 1

Anatomical Context for Familial Cold Autoinflammatory Syndrome 1

MalaCards organs/tissues related to Familial Cold Autoinflammatory Syndrome 1:

41
Bone, Skin, Testes, Spinal Cord, Dorsal Root Ganglion, Brain

Publications for Familial Cold Autoinflammatory Syndrome 1

Articles related to Familial Cold Autoinflammatory Syndrome 1:

(show top 50) (show all 55)
# Title Authors Year
1
[EXPRESS] TRPA1 sensitization during diabetic vascular impairment contributes to cold hypersensitivity in a mouse model of painful diabetic peripheral neuropathy. ( 29968518 )
2018
2
Chemokine (c-c motif) receptor 2 mediates mechanical and cold hypersensitivity in sickle cell disease mice. ( 29697532 )
2018
3
Oxaliplatin-induced changes in expression of transient receptor potential channels in the dorsal root ganglion as a neuropathic mechanism for cold hypersensitivity. ( 29274843 )
2018
4
The association between cold hypersensitivity in the hands and feet and chronic disease: results of a multicentre study. ( 29385996 )
2018
5
The definition and diagnosis of cold hypersensitivity in the hands and feet: Finding from the experts survey. ( 29629292 )
2018
6
Herbal Medicines for Cold Hypersensitivity in the Hands and Feet: A Systematic Review and Meta-Analysis. ( 29993255 )
2018
7
Cold hypersensitivity after hand injuries. A prospective 7-year follow-up. ( 30289015 )
2018
8
Efficacy and safety of Ojeok-san in Korean female patients with cold hypersensitivity in the hands and feet: study protocol for a randomized, double-blinded, placebo-controlled, multicenter pilot study. ( 30497488 )
2018
9
The efficacy and safety of Danggui-Sayuk-Ga-Osuyu-Saenggang-tang on Korean patients with cold hypersensitivity in the hands: study protocol for a pilot, double-blind, randomized, placebo-controlled, parallel-group clinical trial. ( 28595610 )
2017
10
Brain activity changes in a macaque model of oxaliplatin-induced neuropathic cold hypersensitivity. ( 28655928 )
2017
11
IKD Current in Cold Transduction and Damage-Triggered Cold Hypersensitivity. ( 29080031 )
2017
12
Cold Hypersensitivity in the Hands and Feet May Be Associated with Functional Dyspepsia: Results of a Multicenter Survey Study. ( 27069497 )
2016
13
Small-to-moderate decreases in cold hypersensitivity up to 3 years after severe hand injuries: A prospective cohort study. ( 26413980 )
2016
14
Evaluation of a home treatment program for cold hypersensitivity using a classical conditioning procedure in patients with hand and arm injuries. ( 26498337 )
2016
15
Pharmacological comparison of a nonhuman primate and a rat model of oxaliplatin-induced neuropathic cold hypersensitivity. ( 26977304 )
2016
16
The relationship of bone-tumor-induced spinal cord astrocyte activation and aromatase expression to mechanical hyperalgesia and cold hypersensitivity in intact female and ovariectomized mice. ( 26995084 )
2016
17
The preventive effect of resiniferatoxin on the development of cold hypersensitivity induced by spinal nerve ligation: involvement of TRPM8. ( 27329106 )
2016
18
Cold and L-menthol-induced sensitization in healthy volunteers--a cold hypersensitivity analogue to the heat/capsaicin model. ( 25719613 )
2015
19
Ionic mechanisms of spinal neuronal cold hypersensitivity in ciguatera. ( 26454262 )
2015
20
Transient receptor potential ankyrin 1 that is induced in dorsal root ganglion neurons contributes to acute cold hypersensitivity after oxaliplatin administration. ( 26567040 )
2015
21
Effects of electroacupuncture on oxaliplatin-induced neuropathic cold hypersensitivity in rats. ( 24158835 )
2014
22
Novel TRPM8 antagonist attenuates cold hypersensitivity after peripheral nerve injury in rats. ( 24472724 )
2014
23
Pharmacological characterization of standard analgesics on oxaliplatin-induced acute cold hypersensitivity in mice. ( 24671055 )
2014
24
Cold hypersensitivity increases with age in mice with sickle cell disease. ( 24953902 )
2014
25
Does cold hypersensitivity increase with age in sickle cell disease? ( 25172823 )
2014
26
VGluT3⁺ primary afferents play distinct roles in mechanical and cold hypersensitivity depending on pain etiology. ( 25186747 )
2014
27
Effects of L-citrulline diet on stress-induced cold hypersensitivity in mice. ( 25276066 )
2014
28
Efficacy and safety of Korean red ginseng for cold hypersensitivity in the hands and feet: a randomized, double-blind, placebo-controlled trial. ( 25284751 )
2014
29
Effect of Korean red ginseng on cold hypersensitivity in the hands and feet: study protocol for a randomized controlled trial. ( 24354675 )
2013
30
Heparanase overexpression reduces carrageenan-induced mechanical and cold hypersensitivity in mice. ( 22227299 )
2012
31
Acute cold hypersensitivity characteristically induced by oxaliplatin is caused by the enhanced responsiveness of TRPA1 in mice. ( 22839205 )
2012
32
Oxaliplatin-induced cold hypersensitivity is due to remodelling of ion channel expression in nociceptors. ( 21438154 )
2011
33
Could an allosteric gating model explain the role of TRPA1 in cold hypersensitivity? ( 21490194 )
2011
34
The roles of iPLA2, TRPM8 and TRPA1 in chemically induced cold hypersensitivity. ( 20092626 )
2010
35
TRPA1 contributes to cold hypersensitivity. ( 21068322 )
2010
36
Cold hypersensitivity 6 to 10 years after replantation or revascularisation of fingers: consequences for work and leisure activities. ( 19091739 )
2009
37
Topical capsaicin application causes cold hypersensitivity in awake monkeys. ( 18587207 )
2008
38
Spinal brain-derived neurotrophic factor governs neuroplasticity and recovery from cold-hypersensitivity following dorsal rhizotomy. ( 18158214 )
2008
39
Intact Adelta-fibers up-regulate transient receptor potential A1 and contribute to cold hypersensitivity in neuropathic rats. ( 18514429 )
2008
40
Continuous infusion of the cannabinoid WIN 55,212-2 to the site of a peripheral nerve injury reduces mechanical and cold hypersensitivity. ( 17375083 )
2007
41
Mechanical and cold hypersensitivity in nerve-injured C57BL/6J mice is not associated with fear-avoidance- and depression-related behaviour. ( 17478455 )
2007
42
Plasticity in intact A delta- and C-fibers contributes to cold hypersensitivity in neuropathic rats. ( 17945425 )
2007
43
Role of metabotropic glutamate receptor subtype 5 (mGluR5) in the maintenance of cold hypersensitivity following a peripheral mononeuropathy in the rat. ( 12763091 )
2003
44
Acute activation of the spinal cord metabotropic glutamate subtype-5 receptor leads to cold hypersensitivity in the rat. ( 12646279 )
2003
45
Cold hypersensitivity and finger systolic blood pressure in hemodialysis patients. ( 7323756 )
1981
46
Cold hypersensitivity after sympathectomy for Raynaud's disease. ( 7375882 )
1980
47
Editorial: Cold hypersensitivity. ( 47431 )
1975
48
Editorial: Cold hypersensitivity. ( 1125647 )
1975
49
Letter: Cold hypersensitivity; weather and eclampsia. ( 1131531 )
1975
50
Cold hypersensitivity. ( 4412500 )
1974

Variations for Familial Cold Autoinflammatory Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Familial Cold Autoinflammatory Syndrome 1:

75
# Symbol AA change Variation ID SNP ID
1 NLRP3 p.Val200Met VAR_013227 rs121908147
2 NLRP3 p.Ala441Val VAR_013229 rs121908146
3 NLRP3 p.Glu629Gly VAR_013230 rs121908148
4 NLRP3 p.Arg262Trp VAR_014104
5 NLRP3 p.Leu307Pro VAR_014124 rs180177431
6 NLRP3 p.Phe525Cys VAR_031853 rs180177478
7 NLRP3 p.Leu355Pro VAR_043685 rs28937896
8 NLRP3 p.Arg490Lys VAR_043689 rs145268073

ClinVar genetic disease variations for Familial Cold Autoinflammatory Syndrome 1:

6 (show top 50) (show all 197)
# Gene Variation Type Significance SNP ID Assembly Location
1 NLRP3 NM_001243133.1(NLRP3): c.908A> G (p.Asp303Gly) single nucleotide variant not provided rs180177447 GRCh37 Chromosome 1, 247587659: 247587659
2 NLRP3 NM_001243133.1(NLRP3): c.908A> G (p.Asp303Gly) single nucleotide variant not provided rs180177447 GRCh38 Chromosome 1, 247424357: 247424357
3 NLRP3 NM_001243133.1(NLRP3): c.910G> A (p.Glu304Lys) single nucleotide variant Pathogenic rs180177484 GRCh37 Chromosome 1, 247587661: 247587661
4 NLRP3 NM_001243133.1(NLRP3): c.910G> A (p.Glu304Lys) single nucleotide variant Pathogenic rs180177484 GRCh38 Chromosome 1, 247424359: 247424359
5 NLRP3 NM_001243133.1(NLRP3): c.914T> C (p.Leu305Pro) single nucleotide variant Likely pathogenic rs180177431 GRCh37 Chromosome 1, 247587665: 247587665
6 NLRP3 NM_001243133.1(NLRP3): c.914T> C (p.Leu305Pro) single nucleotide variant Likely pathogenic rs180177431 GRCh38 Chromosome 1, 247424363: 247424363
7 NLRP3 NM_001243133.1(NLRP3): c.916C> A (p.Gln306Lys) single nucleotide variant not provided rs180177432 GRCh37 Chromosome 1, 247587667: 247587667
8 NLRP3 NM_001243133.1(NLRP3): c.916C> A (p.Gln306Lys) single nucleotide variant not provided rs180177432 GRCh38 Chromosome 1, 247424365: 247424365
9 NLRP3 NM_001243133.1(NLRP3): c.916C> G (p.Gln306Glu) single nucleotide variant not provided rs180177432 GRCh37 Chromosome 1, 247587667: 247587667
10 NLRP3 NM_001243133.1(NLRP3): c.916C> G (p.Gln306Glu) single nucleotide variant not provided rs180177432 GRCh38 Chromosome 1, 247424365: 247424365
11 NLRP3 NM_001243133.1(NLRP3): c.920G> T (p.Gly307Val) single nucleotide variant not provided rs180177468 GRCh37 Chromosome 1, 247587671: 247587671
12 NLRP3 NM_001243133.1(NLRP3): c.920G> T (p.Gly307Val) single nucleotide variant not provided rs180177468 GRCh38 Chromosome 1, 247424369: 247424369
13 NLRP3 NM_001243133.1(NLRP3): c.930C> T (p.Asp310=) single nucleotide variant Benign/Likely benign rs143840033 GRCh37 Chromosome 1, 247587681: 247587681
14 NLRP3 NM_001243133.1(NLRP3): c.930C> T (p.Asp310=) single nucleotide variant Benign/Likely benign rs143840033 GRCh38 Chromosome 1, 247424379: 247424379
15 NLRP3 NM_001243133.1(NLRP3): c.931G> A (p.Glu311Lys) single nucleotide variant not provided rs180177470 GRCh37 Chromosome 1, 247587682: 247587682
16 NLRP3 NM_001243133.1(NLRP3): c.931G> A (p.Glu311Lys) single nucleotide variant not provided rs180177470 GRCh38 Chromosome 1, 247424380: 247424380
17 NLRP3 NM_001243133.1(NLRP3): c.935A> C (p.His312Pro) single nucleotide variant not provided rs180177488 GRCh37 Chromosome 1, 247587686: 247587686
18 NLRP3 NM_001243133.1(NLRP3): c.935A> C (p.His312Pro) single nucleotide variant not provided rs180177488 GRCh38 Chromosome 1, 247424384: 247424384
19 NLRP3 NM_001243133.1(NLRP3): c.937A> G (p.Ile313Val) single nucleotide variant Uncertain significance rs180177501 GRCh37 Chromosome 1, 247587688: 247587688
20 NLRP3 NM_001243133.1(NLRP3): c.937A> G (p.Ile313Val) single nucleotide variant Uncertain significance rs180177501 GRCh38 Chromosome 1, 247424386: 247424386
21 NLRP3 NM_001243133.1(NLRP3): c.944C> T (p.Pro315Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs180177462 GRCh37 Chromosome 1, 247587695: 247587695
22 NLRP3 NM_001243133.1(NLRP3): c.944C> T (p.Pro315Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs180177462 GRCh38 Chromosome 1, 247424393: 247424393
23 NLRP3 NM_001243133.1(NLRP3): c.973C> T (p.Arg325Trp) single nucleotide variant not provided rs180177500 GRCh37 Chromosome 1, 247587724: 247587724
24 NLRP3 NM_001243133.1(NLRP3): c.973C> T (p.Arg325Trp) single nucleotide variant not provided rs180177500 GRCh38 Chromosome 1, 247424422: 247424422
25 NLRP3 NM_001243133.1(NLRP3): c.977G> A (p.Gly326Glu) single nucleotide variant not provided rs180177456 GRCh37 Chromosome 1, 247587728: 247587728
26 NLRP3 NM_001243133.1(NLRP3): c.977G> A (p.Gly326Glu) single nucleotide variant not provided rs180177456 GRCh38 Chromosome 1, 247424426: 247424426
27 NLRP3 NM_001243133.1(NLRP3): c.993C> A (p.Ser331Arg) single nucleotide variant not provided rs180177451 GRCh37 Chromosome 1, 247587744: 247587744
28 NLRP3 NM_001243133.1(NLRP3): c.993C> A (p.Ser331Arg) single nucleotide variant not provided rs180177451 GRCh38 Chromosome 1, 247424442: 247424442
29 NLRP3 NM_004895.3: c.3006-45_3006-44del deletion not provided
30 NLRP3 NM_001243133.1(NLRP3): c.907G> C (p.Asp303His) single nucleotide variant not provided rs121908153 GRCh38 Chromosome 1, 247424356: 247424356
31 NLRP3 NM_001243133.1(NLRP3): c.907G> C (p.Asp303His) single nucleotide variant not provided rs121908153 GRCh37 Chromosome 1, 247587658: 247587658
32 NLRP3 NM_001243133.1(NLRP3): c.902G> A (p.Gly301Asp) single nucleotide variant not provided rs180177441 GRCh38 Chromosome 1, 247424351: 247424351
33 NLRP3 NM_001243133.1(NLRP3): c.902G> A (p.Gly301Asp) single nucleotide variant not provided rs180177441 GRCh37 Chromosome 1, 247587653: 247587653
34 NLRP3 NM_001243133.1(NLRP3): c.895A> G (p.Met299Val) single nucleotide variant not provided rs180177494 GRCh38 Chromosome 1, 247424344: 247424344
35 NLRP3 NM_001243133.1(NLRP3): c.895A> G (p.Met299Val) single nucleotide variant not provided rs180177494 GRCh37 Chromosome 1, 247587646: 247587646
36 NLRP3 NM_001243133.1(NLRP3): c.791T> G (p.Leu264Arg) single nucleotide variant not provided rs180177436 GRCh38 Chromosome 1, 247424240: 247424240
37 NLRP3 NM_001243133.1(NLRP3): c.791T> G (p.Leu264Arg) single nucleotide variant not provided rs180177436 GRCh37 Chromosome 1, 247587542: 247587542
38 NLRP3 NM_001243133.1(NLRP3): c.791T> A (p.Leu264His) single nucleotide variant not provided rs180177436 GRCh38 Chromosome 1, 247424240: 247424240
39 NLRP3 NM_001243133.1(NLRP3): c.791T> A (p.Leu264His) single nucleotide variant not provided rs180177436 GRCh37 Chromosome 1, 247587542: 247587542
40 NLRP3 NM_001243133.1(NLRP3): c.790C> T (p.Leu264Phe) single nucleotide variant not provided rs180177476 GRCh38 Chromosome 1, 247424239: 247424239
41 NLRP3 NM_001243133.1(NLRP3): c.790C> T (p.Leu264Phe) single nucleotide variant not provided rs180177476 GRCh37 Chromosome 1, 247587541: 247587541
42 NLRP3 NM_001243133.1(NLRP3): c.790C> G (p.Leu264Val) single nucleotide variant not provided rs180177476 GRCh38 Chromosome 1, 247424239: 247424239
43 NLRP3 NM_001243133.1(NLRP3): c.790C> G (p.Leu264Val) single nucleotide variant not provided rs180177476 GRCh37 Chromosome 1, 247587541: 247587541
44 NLRP3 NM_001243133.1(NLRP3): c.785T> G (p.Val262Gly) single nucleotide variant not provided rs104895392 GRCh38 Chromosome 1, 247424234: 247424234
45 NLRP3 NM_001243133.1(NLRP3): c.785T> G (p.Val262Gly) single nucleotide variant not provided rs104895392 GRCh37 Chromosome 1, 247587536: 247587536
46 NLRP3 NM_001243133.1(NLRP3): c.785T> C (p.Val262Ala) single nucleotide variant not provided rs104895392 GRCh38 Chromosome 1, 247424234: 247424234
47 NLRP3 NM_001243133.1(NLRP3): c.785T> C (p.Val262Ala) single nucleotide variant not provided rs104895392 GRCh37 Chromosome 1, 247587536: 247587536
48 NLRP3 NM_001243133.1(NLRP3): c.779G> T (p.Arg260Leu) single nucleotide variant not provided rs180177442 GRCh38 Chromosome 1, 247424228: 247424228
49 NLRP3 NM_001243133.1(NLRP3): c.779G> T (p.Arg260Leu) single nucleotide variant not provided rs180177442 GRCh37 Chromosome 1, 247587530: 247587530
50 NLRP3 NM_001243133.1(NLRP3): c.779G> C (p.Arg260Pro) single nucleotide variant not provided rs180177442 GRCh38 Chromosome 1, 247424228: 247424228

Expression for Familial Cold Autoinflammatory Syndrome 1

Search GEO for disease gene expression data for Familial Cold Autoinflammatory Syndrome 1.

Pathways for Familial Cold Autoinflammatory Syndrome 1

Pathways related to Familial Cold Autoinflammatory Syndrome 1 according to GeneCards Suite gene sharing:

(show all 32)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.66 CASP1 IL1B IL1R1 MEFV NLRP3 TNFRSF1A
2
Show member pathways
13.03 CASP1 IL1B IL1R1 TNFRSF1A
3
Show member pathways
12.97 CASP1 IL1B IL1R1 TNFRSF1A
4
Show member pathways
12.52 CASP1 IL1R1 TNFRSF1A
5
Show member pathways
12.51 CASP1 IL1B NLRP3 TNFRSF1A
6
Show member pathways
12.51 CASP1 IL1B MEFV NLRP3 TNFRSF1A
7 12.46 CASP1 IL1B IL1R1 TNFRSF1A
8
Show member pathways
12.41 IL1B IL1R1 TNFRSF1A
9
Show member pathways
12.4 IL1B IL1R1 TNFRSF1A
10
Show member pathways
12.31 CASP1 IL1B IL1R1 TNFRSF1A
11
Show member pathways
12.05 CASP1 IL1B IL1R1
12
Show member pathways
11.97 CASP1 IL1B NLRP3
13 11.87 IL1B IL1R1 TNFRSF1A
14 11.82 IL1B IL1R1 TNFRSF1A
15
Show member pathways
11.75 CASP1 MEFV NLRP3
16
Show member pathways
11.72 CASP1 IL1B IL1R1 TNFRSF1A
17
Show member pathways
11.69 CASP1 IL1B NLRP3 TNFRSF1A
18 11.64 IL1B IL1R1
19 11.63 IL1B IL1R1
20 11.59 IL1B IL1R1 TNFRSF1A
21 11.58 CASP1 IL1B
22 11.55 IL1B IL1R1
23
Show member pathways
11.43 IL1B TNFRSF1A
24 11.43 CASP1 IL1B NLRP3
25 11.35 CASP1 IL1B
26 11.34 IL1R1 TNFRSF1A
27
Show member pathways
11.22 IL1B IL1R1
28 11.19 IL1B IL1R1 TNFRSF1A
29 10.92 CASP1 IL1B
30 10.54 CASP1 IL1B MEFV NLRP3
31 10.53 IL1B IL1R1 NLRP3
32 10.3 CASP1 IL1B

GO Terms for Familial Cold Autoinflammatory Syndrome 1

Cellular components related to Familial Cold Autoinflammatory Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 autophagosome GO:0005776 8.96 IL1B MEFV
2 NLRP3 inflammasome complex GO:0072559 8.62 CASP1 NLRP3

Biological processes related to Familial Cold Autoinflammatory Syndrome 1 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.89 CASP1 IL1B IL1R1 NLRP3 TNFRSF1A
2 apoptotic process GO:0006915 9.78 CASP1 IL1B NLRP3 TNFRSF1A
3 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.63 CASP1 IL1B TNFRSF1A
4 cellular response to lipopolysaccharide GO:0071222 9.61 CASP1 IL1B NLRP3
5 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.58 CASP1 NLRP3
6 negative regulation of inflammatory response GO:0050728 9.58 MEFV NLRP3 TNFRSF1A
7 regulation of inflammatory response GO:0050727 9.57 IL1R1 NLRP3
8 interleukin-1-mediated signaling pathway GO:0070498 9.56 IL1B IL1R1
9 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.55 CASP1 NLRP3
10 positive regulation of interferon-gamma production GO:0032729 9.54 IL1B IL1R1
11 cellular response to organic substance GO:0071310 9.52 CASP1 IL1B
12 positive regulation of interleukin-1 beta secretion GO:0050718 9.51 CASP1 NLRP3
13 cellular response to mechanical stimulus GO:0071260 9.5 CASP1 IL1B TNFRSF1A
14 regulation of establishment of endothelial barrier GO:1903140 9.37 IL1B TNFRSF1A
15 interleukin-1 beta production GO:0032611 9.26 IL1B NLRP3
16 cytokine-mediated signaling pathway GO:0019221 9.26 CASP1 IL1B IL1R1 TNFRSF1A
17 positive regulation of T-helper 1 cell cytokine production GO:2000556 9.16 IL1B IL1R1
18 inflammatory response GO:0006954 9.02 IL1B IL1R1 MEFV NLRP3 TNFRSF1A

Sources for Familial Cold Autoinflammatory Syndrome 1

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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