CAPS
MCID: CRY008
MIFTS: 48

Cryopyrin-Associated Periodic Syndrome (CAPS)

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

Aliases & Classifications for Cryopyrin-Associated Periodic Syndrome

MalaCards integrated aliases for Cryopyrin-Associated Periodic Syndrome:

Name: Cryopyrin-Associated Periodic Syndrome 53 59
Cryopyrin Associated Periodic Syndrome 37 6
Cryopyrinopathy 53 59
Caps 53 59
Cryopyrin-Associated Periodic Syndromes 72

Characteristics:

Orphanet epidemiological data:

59
cryopyrin-associated periodic syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (France); Age of onset: Adolescent,Childhood,Infancy,Neonatal; Age of death: adult,elderly,young Adult;

Classifications:



External Ids:

KEGG 37 H00282
MESH via Orphanet 45 D056587
ICD10 via Orphanet 34 E85.0
UMLS via Orphanet 73 C2316212
Orphanet 59 ORPHA208650
UMLS 72 C2316212

Summaries for Cryopyrin-Associated Periodic Syndrome

KEGG : 37
Cryopyrin associated periodic syndrome (CAPS) all arise from a missense mutation in the CIAS1 gene that encodes NALP3. These are autosomal dominant inherited disease characterized by recurrent inflammatory episodes. The pathogenic mechanism of these syndromes is attributed to increased activation of the NALP3 inflammasome, resulting in aberrantly high production of IL-1beta.

MalaCards based summary : Cryopyrin-Associated Periodic Syndrome, also known as cryopyrin associated periodic syndrome, is related to familial cold autoinflammatory syndrome 1 and muckle-wells syndrome. An important gene associated with Cryopyrin-Associated Periodic Syndrome is NLRP3 (NLR Family Pyrin Domain Containing 3), and among its related pathways/superpathways are NOD-like receptor signaling pathway and Selenium Micronutrient Network. The drugs Metformin and Trandolapril have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and eye.

Wikipedia : 75 Cryopyrin-associated periodic syndrome is a group of rare, heterogeneous autoinflammatory disease... more...

Related Diseases for Cryopyrin-Associated Periodic Syndrome

Diseases related to Cryopyrin-Associated Periodic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 194)
# Related Disease Score Top Affiliating Genes
1 familial cold autoinflammatory syndrome 1 33.8 NLRP3 IL1R1
2 muckle-wells syndrome 33.6 NLRP3 IL1R1 CRP
3 cinca syndrome 33.6 NLRP3 IL1RN IL1R1
4 amyloidosis aa 31.2 SAA4 CRP
5 wells syndrome 31.2 NLRP3 IL1R1 CRP
6 cold urticaria 31.0 NLRP3 IL1R1
7 arthropathy 30.8 NLRP3 CRP
8 chronic meningitis 30.7 NLRP3 CRP
9 conjunctivitis 30.6 NLRP3 IL6
10 aseptic meningitis 30.5 NLRP3 IL1RN IL1R1
11 mevalonic aciduria 30.4 NLRP3 IL1RN
12 hyper-igd syndrome 30.4 IL1RN CRP
13 gastroenteritis 30.1 IL6 CRP
14 cystitis 30.1 IL6 CRP
15 exanthem 29.9 NLRP3 IL6 IL1RN CRP
16 familial mediterranean fever 29.8 SAA4 NLRP3 IL1RN CRP
17 pericarditis 29.3 IL6 IL1RN CRP
18 juvenile rheumatoid arthritis 29.2 IL6 IL1RN IL1R1 CRP
19 adult-onset still's disease 28.8 IL6 IL1RN IL1R1 CRP
20 proteasome-associated autoinflammatory syndrome 1 28.6 IL6 IL1RN IL1R1 CRP
21 catastrophic antiphospholipid syndrome 11.6
22 autoinflammatory syndrome 10.8
23 familial cold autoinflammatory syndrome 10.8
24 amyloidosis 10.7
25 urticaria 10.7
26 sensorineural hearing loss 10.5
27 branchiootic syndrome 1 10.5
28 uveitis 10.5
29 triiodothyronine receptor auxiliary protein 10.4
30 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
31 systemic onset juvenile idiopathic arthritis 10.4
32 unicentric castleman disease 10.3 SAA4 CRP
33 papilledema 10.3
34 eye disease 10.3
35 anterior uveitis 10.3
36 paratyphoid fever 10.3 IL1R1 CRP
37 streptococcal meningitis 10.3 IL1R1 CRP
38 autoimmune disease 10.2
39 keratitis, hereditary 10.2
40 gout 10.2
41 rheumatic disease 10.2
42 enthesopathy 10.2
43 hereditary periodic fever syndrome 10.2
44 cartilage disease 10.2 IL1RN CRP
45 pericardium disease 10.2 IL1RN CRP
46 orbital cellulitis 10.2 IL1RN CRP
47 acute orbital inflammation 10.2 IL1RN CRP
48 silicosis 10.2 NLRP3 IL1RN
49 neisseria meningitidis infection 10.1 IL1RN IL1R1
50 infertility 10.1

Graphical network of the top 20 diseases related to Cryopyrin-Associated Periodic Syndrome:



Diseases related to Cryopyrin-Associated Periodic Syndrome

Symptoms & Phenotypes for Cryopyrin-Associated Periodic Syndrome

Drugs & Therapeutics for Cryopyrin-Associated Periodic Syndrome

Drugs for Cryopyrin-Associated Periodic Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 480)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 4091 14219
2
Trandolapril Approved Phase 4 87679-37-6 5484727
3
Captopril Approved Phase 4 62571-86-2 44093
4
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
5
Didanosine Approved Phase 4 69655-05-6 50599
6
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
7
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
8
Histamine Approved, Investigational Phase 4 51-45-6 774
9
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
10
Citalopram Approved Phase 4 59729-33-8 2771
11
Sertraline Approved Phase 4 79617-96-2 68617
12
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
13
Topiramate Approved Phase 4 97240-79-4 5284627
14
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
15
Mirtazapine Approved Phase 4 61337-67-5, 85650-52-8 4205
16
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
17
Cocaine Approved, Illicit Phase 4 50-36-2 446220 5760
18
Ziprasidone Approved Phase 4 146939-27-7 60854
19
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
20
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
21
Levetiracetam Approved, Investigational Phase 4 102767-28-2 441341
22
Simvastatin Approved Phase 4 79902-63-9 54454
23
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
24
Memantine Approved, Investigational Phase 4 19982-08-2 4054
25
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
26
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 23925 27284
27
tannic acid Approved Phase 4 1401-55-4
28
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
29
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
30
Povidone Approved Phase 4 9003-39-8
31
Povidone-iodine Approved Phase 4 25655-41-8
32
Iodine Approved, Investigational Phase 4 7553-56-2 807
33
Ferrous fumarate Approved Phase 4 141-01-5
34 Taurolidine Approved, Investigational Phase 4 19388-87-5
35
Sodium citrate Approved, Investigational Phase 4 68-04-2
36
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
37
Colestipol Approved Phase 4 26658-42-4
38
Prazosin Approved Phase 4 19216-56-9 4893
39
Promethazine Approved, Investigational Phase 4 60-87-7 4927
40
Suvorexant Approved, Investigational Phase 4 1030377-33-3
41
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
42
Lopinavir Approved Phase 4 192725-17-0 92727
43
Paroxetine Approved, Investigational Phase 4 61869-08-7 43815
44
Propranolol Approved, Investigational Phase 4 525-66-6 4946
45
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
46
Ambrisentan Approved, Investigational Phase 4 177036-94-1 6918493
47
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
48
mometasone furoate Approved, Investigational, Vet_approved Phase 4 83919-23-7
49
Ginseng Approved, Investigational, Nutraceutical Phase 4 50647-08-0
50
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037

Interventional clinical trials:

(show top 50) (show all 414)
# Name Status NCT ID Phase Drugs
1 A Randomized , Controlled, Doulbe Blind Placebo Trial To Evaluate The Efficacy and the Tolerance of an Omega 3 Fatty Acids Supplementation in ADHD Children Unknown status NCT00770627 Phase 4
2 Colecalciferol as an Add-on Treatment to Subcutaneously Administered Interferon-beta-1b for Treatment of MS Unknown status NCT01339676 Phase 4 Colecalciferol;Placebo capsules
3 Acute Haemodynamic Effects of Treatment With ACE-Inhibitors in Patients With Symptomatic Aortic Stenosis (ACCESS) Unknown status NCT00252317 Phase 4 Captopril and Trandolapril;Captopril Test Dose and Trandolapril
4 Evaluate the Efficacy of Xuebijing Injection in Acute Exacerbations of COPD:a Multicentre Randomised Controlled Trial Unknown status NCT02937974 Phase 4 Xuebijing;Placebo
5 Placebo Controlled Study Using Lovaza as Treatment for Non-Alcoholic Fatty Liver Disease Unknown status NCT00941642 Phase 4 Lovaza;placebo control
6 A Double-Blind, Placebo-Controlled, Flexible-Dose Pilot Clinical Trial of Once-Daily Extended-Release Tramadol for the Treatment of PTSD Unknown status NCT01517711 Phase 4 Tramadol;Placebo
7 Treatment of Plantar Fasciitis With Injection af Platelet-rich Plasma Into the Origin of the Plantar Fascia - a Prospective, Randomized and Double Blinded Study. Unknown status NCT01509274 Phase 4
8 Dose Related Decrease in Triglycerides in Patients With Hypertriglyceridemia and Treated With Lovaza. Unknown status NCT00934219 Phase 4 Omega-3-Acid Ethyl Esters
9 A Randomised, Multi-Centre, Open-Label Study in Well-Controlled Treatment-Experienced HIV-Infected Patients to Assess Compliance With a Once-Daily Regimen of Lamivudine, Efavirenz and Didanosine Versus Continuation of Current Anti-Retroviral Regimen Delivered at Least Twice Daily Unknown status NCT00214435 Phase 4 once daily minimum 3-drug regimen of anti-retroviral medications
10 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
11 Effect of Korean Red Ginseng on Women With Cold Hypersensitivity of Hands and Feet : a Randomized, Double-blind, Placebo-controlled Trial Completed NCT01664156 Phase 4 Korean red ginseng;Placebo
12 A Trial to Determine the Long-term Durability of Virologic Suppression in Kaletra Recipients With Imperfect Adherence Completed NCT00785616 Phase 4
13 Cathflo Activase (Alteplase) Pediatric Study (CAPS) Completed NCT00307580 Phase 4 Cathflo Activase (Alteplase)
14 Serum Levels of Doxycycline at the Time of Abortion With Two Dosing Regimens Completed NCT00177333 Phase 4 Doxycycline
15 A Placebo-controlled Trial of Adjunctive Quetiapine for Refractory PTSD Completed NCT00292370 Phase 4 Open Label (OL) Paroxetine;Placebo;Quetiapine
16 Topiramate in the Treatment of Post Traumatic Stress Disorder (PTSD) Completed NCT00203463 Phase 4 topiramate
17 Pregnenolone Augmentation in the Treatment of Patients With Recent-Onset Schizophrenia: an 8-week, Randomized, Double-blind, Placebo-controlled Trial Completed NCT00847600 Phase 4
18 Randomized Clinical Trial to Study the Topiramate Efficacy for Posttraumatic Disorder Treatment Completed NCT00725920 Phase 4 Topiramate;placebo control group
19 An Open-Label Trial of Memantine for Cognitive Impairment in Patients With Post-Traumatic Stress Disorder Completed NCT02258828 Phase 4 Memantine
20 Prazosin Treatment for Combat Trauma PTSD Nightmares and Sleep Disturbance Completed NCT00108420 Phase 4 Prazosin
21 Paroxetine Treatment in Outpatients With Comorbid PTSD and Substance Dependence Completed NCT00330239 Phase 4 Paroxetine CR
22 Immediate and Delayed Loading of 4.1 mm and 4.8 mm Implants in the Posterior Mandible & Maxilla: A Controlled Randomized Study of Single or 2-4 Unit Restorations Loaded Immediately After Surgery or Four Weeks After Surgery Completed NCT00782171 Phase 4
23 Risperidone Monotherapy in the Treatment of PTSD in Women Survivors of Domestic Abuse and Rape Trauma: a Double-Blind, Placebo Controlled, Randomized Clinical Trial Completed NCT00208182 Phase 4 Risperidone
24 Exercise and Phytoestrogens: a Synergistic Effect on Factors Predisposing to CVD in Postmenopausal Women Completed NCT01048606 Phase 4
25 Locking of Totally Implanted Venous Access Devices and Tunneled Catheters With or Without Heparin: a Randomised Open-labeled Controlled Trial Completed NCT00994136 Phase 4 normal saline
26 Randomized, Controlled, Double Blind Trial to Evaluate Sedation and Quality of Life in High-risk, Critically Ill Patients Treated With Oral Melatonin Completed NCT00470821 Phase 4 Oral melatonin 3mg BID;Placebo
27 Geodon (Ziprasidone) for Posttraumatic Stress Disorder Completed NCT00208208 Phase 4 Ziprasidone
28 A Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Determine the Efficacy and Safety of Topiramate in the Treatment of Posttraumatic Stress Disorder in Civilians Completed NCT00208130 Phase 4 Topiramate
29 Neural Circuits in Women With Abuse and Posttraumatic Stress Disorder Completed NCT01681849 Phase 4 Placebo;Paroxetine
30 A Placebo-Controlled Study of Mirtazapine for PTSD in OIF/OEF Veterans Completed NCT00302107 Phase 4 Mirtazapine;Placebo
31 Combined Mirtazapine and Selective Serotonin Reuptake Inhibitor (SSRI) Treatment of Post-traumatic Stress Disorder (PTSD) Completed NCT01178671 Phase 4 Mirtazapine;Sertraline
32 Atomoxetine in Comorbid ADHD/PTSD: A Pilot, Placebo-Controlled Feasibility Study Completed NCT02287038 Phase 4 Atomoxetine 80 MG
33 Evaluation of Clinical and Safety Outcomes Associated With Conversion From Brand-Name to Generic Tacrolimus Products in High Risk Transplant Recipients Completed NCT02014103 Phase 4 Tacrolimus
34 Efficacy and Safety of Furocyst in Patients With Poly Cystic Ovary Syndrome Completed NCT02789488 Phase 4
35 A Multicentre, Double-blind, Randomized, Phase IV Clinical Trial Comparing the Safety, Tolerability and Efficacy of Levetiracetam Versus Lamotrigine and Carbamazepine in the Oral Antiepileptic Therapy of Newly Diagnosed Elderly Patients With Focal Epilepsy. Completed NCT00438451 Phase 4 Levetiracetam;Carbamazepine;Lamotrigine
36 A 12-week, Randomized, Double-blind, Parallel-group, Placebo-controlled Trial of Citicoline as an add-on Therapy Will be Conducted in 200 Outpatients With Bipolar I Disorder and Cocaine Dependence. Completed NCT00619723 Phase 4 Citicoline;Placebo
37 Energy Expenditure Assessment of Preterm Infant With Very Low Birth Weight Fed With Human Milk or Preterm Formula Completed NCT00769509 Phase 4
38 Antidepressant Treatment at an Inner City Asthma Clinic Completed NCT01324700 Phase 4 High severity group: Escitalopram;High severity group: Placebo;Low severity group: Escitalopram;Low severity group: Placebo
39 Magnetic Resonance Characterization of Carotid Atherosclerotic Plaque in Vivo: Effect of High Density Lipoprotein Elevation on Plaque Morphology Completed NCT00307307 Phase 4 Niacin/simvastatin compared to simvastatin alone at 2 doses
40 Randomized Double-blind Placebo-controlled Trial of Memantine Hydrochloride for the Treatment of Childhood-onset Epileptic Encephalopathies Recruiting NCT03779672 Phase 4 Memantine Hydrochloride 10 mg
41 Skin Antisepsis With Chlorhexidine-Alcohol Versus Povidone Iodine-Alcohol, Combined or Not With Use of a Bundle of New Devices, for Prevention of Intravascular-catheter Colonization and Catheter Failure: An Open Label, Single Center, Randomized Controlled, Two-by-two Factorial Trial Recruiting NCT03757143 Phase 4 Povidone-Iodine-Alcohol;Chlorhexidine-Alcohol
42 Amino Acid Chelated Iron Versus Ferrous Fumarate in the Treatment of Iron Deficiency Anemia With Pregnancy: Randomized Controlled Trial Recruiting NCT03830034 Phase 4 Amino Acid chelated iron tab 15 mg;Ferrous Fumarate tab 350 mg( 115 mg elemental iron)
43 Taurolidine Citrate and Unfractionated Heparin Combination Versus Unfractionated Heparin Alone in Prevention of Inflammation in Hemodialysis Catheters. Recruiting NCT03539718 Phase 4 Taurolidine heparin;Heparin Sodium
44 Effect Of Dexmedetomidine Infusion On Sublingual Microcirculation In Patients Undergoing On Pump Coronary Artery Bypass Graft Surgery Recruiting NCT02714725 Phase 4 Dexmedetomidine;Placebo for Dexmedetomidine normal saline infusion;Propofol infusion
45 Treatment Effect of Colesevelam for Bile Acid Diarrhoea - a Randomised Placebo-controlled Trial Recruiting NCT03876717 Phase 4 Colesevelam Hydrochloride;Placebo oral capsule
46 Propranolol Reactivation Mismatch (PRM) Treatment for PTSD: A Pilot Study Not yet recruiting NCT03652922 Phase 4 Reactivation Mismatch
47 Administration of Prazosin to Prevent PTSD After Sexual Assault Not yet recruiting NCT03997864 Phase 4 Prazosin;Placebos
48 Suvorexant: A Dual Orexin Receptor Antagonist for Treating Sleep Disturbance inPosttraumatic Stress Not yet recruiting NCT03642028 Phase 4 Suvorexant
49 PTSD Symptom Reduction by Propranolol Given After Memory Activation Terminated NCT00645450 Phase 4 Propranolol;Placebo
50 A Phase IV Open Label Investigation of the Efficacy and Durability of Once Daily Antiretroviral Therapy With Kaletra and Viread in Antiretroviral Naïve Patients. Terminated NCT00679926 Phase 4 Lopinavir/ritonavir and tenofovir

Search NIH Clinical Center for Cryopyrin-Associated Periodic Syndrome

Inferred drug relations via UMLS 72 / NDF-RT 51 :


anakinra

Genetic Tests for Cryopyrin-Associated Periodic Syndrome

Anatomical Context for Cryopyrin-Associated Periodic Syndrome

MalaCards organs/tissues related to Cryopyrin-Associated Periodic Syndrome:

41
Brain, Skin, Eye, Testes, Heart, Breast, Bone

Publications for Cryopyrin-Associated Periodic Syndrome

Articles related to Cryopyrin-Associated Periodic Syndrome:

(show top 50) (show all 180)
# Title Authors PMID Year
1
Dosage Considerations for Canakinumab in Children With Periodic Fever Syndromes. 38
30447083 2019
2
Somatic mosaicism in adult-onset TNF receptor-associated periodic syndrome (TRAPS). 38
31397119 2019
3
[Reactivation of the cryopyrin-associated periodic syndrome after vaccination in a patient who is a candidate for immunosuppression]. 38
31241279 2019
4
Retrospective case series describing the efficacy, safety and cost-effectiveness of a vial-sharing programme for canakinumab treatment for paediatric patients with cryopyrin-associated periodic syndrome. 38
31287007 2019
5
The NLRP3 inflammasome as pharmacological target. 38
31335445 2019
6
Exploratory study of MYD88 L265P, rare NLRP3 variants and clonal hematopoiesis prevalence in patients with Schnitzler's Syndrome. 38
31268627 2019
7
Magnetic resonance imaging findings in a patient with cryopyrin-associated periodic syndrome: A rare hereditary multi-system inflammatory disorder. 38
31337256 2019
8
The First Case Series of Cryopyrin-Associated Periodic Syndrome in Korea. 38
31172726 2019
9
Cryopyrin-associated periodic syndrome presenting with posterior scleritis. 38
31170293 2019
10
Canakinumab provides rapid and sustained long-term efficacy and safety in patients with cryopyrin-associated periodic syndrome aged ≤5 years. 38
31161734 2019
11
Low-frequency mosaicism in cryopyrin-associated periodic fever syndrome: mosaicism in systemic autoinflammatory diseases. 38
31185077 2019
12
Spectrum of the neurologic manifestations in childhood-onset cryopyrin-associated periodic syndrome. 38
30967326 2019
13
Severe cryopyrin-associated periodic syndrome first characterized by early childhood-onset sensorineural hearing loss - Case report and literature review. 38
30772614 2019
14
An International Delphi Survey for the Definition of New Classification Criteria for Familial Mediterranean Fever, Mevalonate Kinase Deficiency, TNF Receptor-associated Periodic Fever Syndromes, and Cryopyrin-associated Periodic Syndrome. 38
30385706 2019
15
A Rare Case of Cryopyrin-associated Periodic Syndrome in an Elderly Woman with NLRP3 and MEFV Mutations. 38
30568124 2019
16
CAPS and NLRP3. 38
31077002 2019
17
Early canakinumab therapy for the sensorineural deafness in a family with Muckle-Wells syndrome due to a novel mutation of NLRP3 gene. 38
30338413 2019
18
Skin and Systemic Inflammation in Schnitzler's Syndrome Are Associated With Neutrophil Extracellular Trap Formation. 38
30967871 2019
19
Ocular Involvement in Muckle-Wells Syndrome. 38
30556770 2018
20
[Renal amyloidosis revealing a cryopyrin associated periodic syndrome]. 38
30236822 2018
21
Analysis of NLRP3, MVK and TNFRSF1A variants in adult Greek patients with autoinflammatory symptoms. 38
30418111 2018
22
Neonatal urticaria: Could it be CAPS? 38
30187963 2018
23
Chronic urticaria in infants as the first manifestation of autoinflammatory disease. 38
30168189 2018
24
Cryopyrin-associated periodic syndrome (CAPS) in a patient with NLRP3 T348M mutation. 38
30184330 2018
25
IL-1β Enhances Wnt Signal by Inhibiting DKK1. 38
29956067 2018
26
Targeting cytokines to treat autoinflammatory diseases. 38
30394352 2018
27
Progressive waves of IL-1β release by primary human monocytes via sequential activation of vesicular and gasdermin D-mediated secretory pathways. 38
30352992 2018
28
CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME-ASSOCIATED UVEITIS AND PAPILLITIS. 38
30134363 2018
29
Erythema nodosum in an adolescent patient with cryopyrin-associated periodic syndrome. 38
29988644 2018
30
Flare of a Cryopyrin-associated Periodic Syndrome Following Vaccination with Neisseria Meningitidis Polysaccharides. 38
29858461 2018
31
A Comprehensive Overview of the Hereditary Periodic Fever Syndromes. 38
27068928 2018
32
[Periodic fever syndromes]. 38
29808817 2018
33
Selective inhibition of the p38α MAPK-MK2 axis inhibits inflammatory cues including inflammasome priming signals. 38
29549113 2018
34
Decreased quality of life and societal impact of cryopyrin-associated periodic syndrome treated with canakinumab: a questionnaire based cohort study. 38
29678136 2018
35
Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene. 38
29366613 2018
36
An Adult Patient With a Novel Mutation in NLRP3 Gene Associated With Cryopyrin-Associated Periodic Syndrome Mimicking Adult-Onset Still Disease. 38
29239927 2018
37
[NLRC4 associated autoinflammatory diseases: A systematic review of the current literature]. 38
29496273 2018
38
Cryopyrin-associated periodic syndrome in early childhood can be successfully treated with interleukin-1 blockades. 38
29331074 2018
39
The safety of live-attenuated vaccines in patients using IL-1 or IL-6 blockade: an international survey. 38
29562920 2018
40
[Efficacy and safety analysis of off-label treatment with biologics in autoinflammatory diseases : Experiences from a German registry (GRAID2)]. 38
28589388 2018
41
OLT1177, a β-sulfonyl nitrile compound, safe in humans, inhibits the NLRP3 inflammasome and reverses the metabolic cost of inflammation. 38
29378952 2018
42
Dynamics of Inflammatory Response in Autoinflammatory Disorders: Autonomous and Hyperinflammatory States. 38
30386349 2018
43
Familial Mediterranean fever mutations are hypermorphic mutations that specifically decrease the activation threshold of the Pyrin inflammasome. 38
29040788 2018
44
The Broad-Ranging Panorama of Systemic Autoinflammatory Disorders with Specific Focus on Acute Painful Symptoms and Hematologic Manifestations in Children. 38
30416699 2018
45
Gene mutations and clinical phenotypes in 15 Chinese children with cryopyrin-associated periodic syndrome (CAPS). 38
29285715 2017
46
Remodelling of the gut microbiota by hyperactive NLRP3 induces regulatory T cells to maintain homeostasis. 38
29196621 2017
47
Long-term safety and efficacy of canakinumab in cryopyrin-associated periodic syndrome: results from an open-label, phase III pivotal study in Japanese patients. 38
27974104 2017
48
Live-attenuated vaccines in a cryopyrin-associated periodic syndrome patient receiving canakinumab treatment during infancy. 38
29152264 2017
49
Muckle-Wells syndrome: a rare hereditary cryopyrin-associated periodic syndrome. 38
26218404 2017
50
Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization. 38
28916543 2017

Variations for Cryopyrin-Associated Periodic Syndrome

ClinVar genetic disease variations for Cryopyrin-Associated Periodic Syndrome:

6 (show top 50) (show all 74)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NLRP3 NM_004895.4(NLRP3): c.1322C> T (p.Ala441Val) single nucleotide variant Pathogenic rs121908146 1:247588067-247588067 1:247424765-247424765
2 NLRP3 NM_004895.4(NLRP3): c.913G> A (p.Asp305Asn) single nucleotide variant Pathogenic rs121908153 1:247587658-247587658 1:247424356-247424356
3 NLRP3 NM_004895.4(NLRP3): c.1064T> C (p.Leu355Pro) single nucleotide variant Pathogenic rs28937896 1:247587809-247587809 1:247424507-247424507
4 NLRP3 NM_004895.4(NLRP3): c.1049C> T (p.Thr350Met) single nucleotide variant Pathogenic rs151344629 1:247587794-247587794 1:247424492-247424492
5 NLRP3 NM_004895.4(NLRP3): c.1579G> A (p.Glu527Lys) single nucleotide variant Likely pathogenic rs180177458 1:247588324-247588324 1:247425022-247425022
6 NLRP3 NM_004895.4(NLRP3): c.1312A> G (p.Thr438Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs180177465 1:247588057-247588057 1:247424755-247424755
7 NLRP3 NM_004895.4(NLRP3): c.680C> T (p.Ala227Val) single nucleotide variant Conflicting interpretations of pathogenicity rs180177493 1:247587425-247587425 1:247424123-247424123
8 NLRP3 NM_004895.4(NLRP3): c.598G> A (p.Val200Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121908147 1:247587343-247587343 1:247424041-247424041
9 NLRP3 NM_004895.4(NLRP3): c.1645A> T (p.Ser549Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs139833874 1:247588390-247588390 1:247425088-247425088
10 NLRP3 NM_004895.4(NLRP3): c.2182A> G (p.Ser728Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs147946775 1:247592912-247592912 1:247429610-247429610
11 NLRP3 NM_004895.4(NLRP3): c.2494C> A (p.Leu832Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs114158404 1:247597571-247597571 1:247434269-247434269
12 NLRP3 NM_004895.4(NLRP3): c.2113C> A (p.Gln705Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs35829419 1:247588858-247588858 1:247425556-247425556
13 NLRP3 NM_004895.4(NLRP3): c.214G> A (p.Val72Met) single nucleotide variant Conflicting interpretations of pathogenicity rs117287351 1:247582310-247582310 1:247419008-247419008
14 NLRP3 NM_004895.4(NLRP3): c.1469G> A (p.Arg490Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs145268073 1:247588214-247588214 1:247424912-247424912
15 NLRP3 NM_004895.4(NLRP3): c.2767A> G (p.Thr923Ala) single nucleotide variant Uncertain significance rs200089542 1:247607371-247607371 1:247444069-247444069
16 NLRP3 NM_004895.4(NLRP3): c.3043A> G (p.Lys1015Glu) single nucleotide variant Uncertain significance rs771315000 1:247611738-247611738 1:247448436-247448436
17 NLRP3 NM_004895.4(NLRP3): c.2617G> A (p.Ala873Thr) single nucleotide variant Uncertain significance rs201867582 1:247599390-247599390 1:247436088-247436088
18 NLRP3 NM_004895.4(NLRP3): c.437G> A (p.Ser146Asn) single nucleotide variant Uncertain significance 1:247587182-247587182 1:247423880-247423880
19 NLRP3 NM_004895.4(NLRP3): c.616G> A (p.Glu206Lys) single nucleotide variant Uncertain significance 1:247587361-247587361 1:247424059-247424059
20 NLRP3 NM_004895.4(NLRP3): c.721T> A (p.Leu241Met) single nucleotide variant Uncertain significance 1:247587466-247587466 1:247424164-247424164
21 NLRP3 NM_004895.4(NLRP3): c.2126C> A (p.Pro709Gln) single nucleotide variant Uncertain significance 1:247588871-247588871 1:247425569-247425569
22 NLRP3 NM_004895.4(NLRP3): c.1667G> A (p.Arg556Gln) single nucleotide variant Uncertain significance 1:247588412-247588412 1:247425110-247425110
23 NLRP3 NM_004895.4(NLRP3): c.2101C> T (p.Leu701Phe) single nucleotide variant Uncertain significance 1:247588846-247588846 1:247425544-247425544
24 NLRP3 NM_004895.4(NLRP3): c.1820A> T (p.Glu607Val) single nucleotide variant Uncertain significance 1:247588565-247588565 1:247425263-247425263
25 NLRP3 NM_004895.4(NLRP3): c.2140G> T (p.Ala714Ser) single nucleotide variant Uncertain significance 1:247588885-247588885 1:247425583-247425583
26 NLRP3 NM_004895.4(NLRP3): c.2674G> T (p.Val892Leu) single nucleotide variant Uncertain significance rs193085132 1:247607278-247607278 1:247443976-247443976
27 NLRP3 NM_004895.4(NLRP3): c.309T> A (p.Asn103Lys) single nucleotide variant Uncertain significance 1:247586557-247586557 1:247423255-247423255
28 NLRP3 NM_004895.4(NLRP3): c.769_770del (p.Phe257fs) deletion Uncertain significance 1:247587514-247587515 1:247424212-247424213
29 NLRP3 NM_004895.4(NLRP3): c.854C> T (p.Pro285Leu) single nucleotide variant Uncertain significance 1:247587599-247587599 1:247424297-247424297
30 NLRP3 NM_004895.4(NLRP3): c.918G> C (p.Glu306Asp) single nucleotide variant Uncertain significance 1:247587663-247587663 1:247424361-247424361
31 NLRP3 NM_004895.4(NLRP3): c.1484A> G (p.Gln495Arg) single nucleotide variant Uncertain significance 1:247588229-247588229 1:247424927-247424927
32 NLRP3 NM_004895.4(NLRP3): c.1594A> G (p.Met532Val) single nucleotide variant Uncertain significance 1:247588339-247588339 1:247425037-247425037
33 NLRP3 NM_004895.4(NLRP3): c.1672G> A (p.Val558Met) single nucleotide variant Uncertain significance 1:247588417-247588417 1:247425115-247425115
34 NLRP3 NM_004895.4(NLRP3): c.1703T> A (p.Phe568Tyr) single nucleotide variant Uncertain significance 1:247588448-247588448 1:247425146-247425146
35 NLRP3 NM_004895.4(NLRP3): c.1717T> G (p.Leu573Val) single nucleotide variant Uncertain significance 1:247588462-247588462 1:247425160-247425160
36 NLRP3 NM_004895.4(NLRP3): c.1835T> C (p.Ile612Thr) single nucleotide variant Uncertain significance 1:247588580-247588580 1:247425278-247425278
37 NLRP3 NM_004895.4(NLRP3): c.1895A> T (p.Tyr632Phe) single nucleotide variant Uncertain significance 1:247588640-247588640 1:247425338-247425338
38 NLRP3 NM_004895.4(NLRP3): c.1982T> G (p.Met661Arg) single nucleotide variant Uncertain significance 1:247588727-247588727 1:247425425-247425425
39 NLRP3 NM_004895.4(NLRP3): c.2018G> C (p.Cys673Ser) single nucleotide variant Uncertain significance 1:247588763-247588763 1:247425461-247425461
40 NLRP3 NM_004895.4(NLRP3): c.2597C> T (p.Ala866Val) single nucleotide variant Uncertain significance 1:247599370-247599370 1:247436068-247436068
41 NLRP3 NM_004895.4(NLRP3): c.2813A> G (p.His938Arg) single nucleotide variant Uncertain significance 1:247607417-247607417 1:247444115-247444115
42 NLRP3 NM_004895.4(NLRP3): c.2914C> T (p.Arg972Ter) single nucleotide variant Uncertain significance 1:247608026-247608026 1:247444724-247444724
43 NLRP3 NM_004895.4(NLRP3): c.403+5G> A single nucleotide variant Uncertain significance 1:247586656-247586656 1:247423354-247423354
44 NLRP3 NM_004895.4(NLRP3): c.2156+4A> G single nucleotide variant Uncertain significance 1:247588905-247588905 1:247425603-247425603
45 NLRP3 NM_004895.4(NLRP3): c.299G> A (p.Arg100His) single nucleotide variant Uncertain significance rs201887896 1:247586547-247586547 1:247423245-247423245
46 NLRP3 NM_004895.4(NLRP3): c.1096C> T (p.Arg366Trp) single nucleotide variant Uncertain significance rs994458759 1:247587841-247587841 1:247424539-247424539
47 NLRP3 NM_004895.4(NLRP3): c.1192C> G (p.Leu398Val) single nucleotide variant Uncertain significance rs906785956 1:247587937-247587937 1:247424635-247424635
48 NLRP3 NM_004895.4(NLRP3): c.2582A> C (p.Tyr861Ser) single nucleotide variant Uncertain significance rs180177452 1:247599355-247599355 1:247436053-247436053
49 NLRP3 NM_004895.4(NLRP3): c.178G> A (p.Asp60Asn) single nucleotide variant Uncertain significance rs1131691891 1:247582274-247582274 1:247418972-247418972
50 NLRP3 NM_004895.4(NLRP3): c.2759G> A (p.Arg920Gln) single nucleotide variant Uncertain significance rs1553293095 1:247607363-247607363 1:247444061-247444061

Expression for Cryopyrin-Associated Periodic Syndrome

Search GEO for disease gene expression data for Cryopyrin-Associated Periodic Syndrome.

Pathways for Cryopyrin-Associated Periodic Syndrome

Pathways related to Cryopyrin-Associated Periodic Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 NOD-like receptor signaling pathway hsa04621

GO Terms for Cryopyrin-Associated Periodic Syndrome

Cellular components related to Cryopyrin-Associated Periodic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.1 SAA4 NLRP3 IL6 IL1RN IL1R1 CRP

Biological processes related to Cryopyrin-Associated Periodic Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.71 IL6 IL1RN IL1R1
2 cytokine-mediated signaling pathway GO:0019221 9.63 IL6 IL1RN IL1R1
3 cellular response to lipopolysaccharide GO:0071222 9.58 NLRP3 IL6 IL1RN
4 regulation of inflammatory response GO:0050727 9.52 NLRP3 IL1R1
5 response to glucocorticoid GO:0051384 9.51 IL6 IL1RN
6 defense response to Gram-positive bacterium GO:0050830 9.5 NLRP3 IL6 CRP
7 positive regulation of interleukin-6 production GO:0032755 9.49 IL6 IL1RN
8 interleukin-1-mediated signaling pathway GO:0070498 9.48 IL1RN IL1R1
9 negative regulation of lipid storage GO:0010888 9.37 IL6 CRP
10 positive regulation of T-helper 2 cell cytokine production GO:2000553 9.26 NLRP3 IL6
11 negative regulation of interleukin-1-mediated signaling pathway GO:2000660 9.16 IL6 IL1RN
12 response to interleukin-1 GO:0070555 9.13 IL1R1
13 acute-phase response GO:0006953 9.13 SAA4 IL6 CRP
14 inflammatory response GO:0006954 9.02 NLRP3 IL6 IL1RN IL1R1 CRP

Sources for Cryopyrin-Associated Periodic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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