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CAPS
MCID: CRY008
MIFTS: 47

Cryopyrin-Associated Periodic Syndrome (CAPS)

Categories: Blood diseases, Bone diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Cryopyrin-Associated Periodic Syndrome

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MalaCards integrated aliases for Cryopyrin-Associated Periodic Syndrome:

Name: Cryopyrin-Associated Periodic Syndrome 52 58
Cryopyrin Associated Periodic Syndrome 36 6
Cryopyrinopathy 52 58
Caps 52 58
Nlrp3-Associated Systemic Autoinflammatory Disease 58
Cryopyrin-Associated Periodic Syndromes 71

Characteristics:

Orphanet epidemiological data:

58
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:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Bone diseases Skin diseases Blood diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases
Rare immunological diseases


External Ids:

KEGG 36 H00282
MESH via Orphanet 44 D056587
ICD10 via Orphanet 33 E85.0
UMLS via Orphanet 72 C2316212
Orphanet 58 ORPHA208650
UMLS 71 C2316212
Sources

Summaries for Cryopyrin-Associated Periodic Syndrome

About this section
KEGG : 36 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 cinca 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 Toll-Like receptor Signaling Pathways. The drugs Propofol and Metformin have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and eye.

Wikipedia : 74 Cryopyrin-associated periodic syndrome is a group of rare, heterogeneous autoinflammatory disease... more...

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Related Diseases for Cryopyrin-Associated Periodic Syndrome

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

(show top 50) (show all 314)
# Related Disease Score Top Affiliating Genes
1 familial cold autoinflammatory syndrome 1 33.6 NLRP3 IL1R1
2 cinca syndrome 33.5 NLRP3 IL1RN IL1R1
3 muckle-wells syndrome 32.9 NLRP3 IL1RN IL1R1 CRP
4 wells syndrome 31.2 NLRP3 IL1R1 CRP
5 amyloidosis aa 31.1 SAA4 CRP
6 familial cold autoinflammatory syndrome 30.8 NLRP3 IL1RN IL1R1
7 cold urticaria 30.8 NLRP3 IL1R1
8 urticaria 30.5 NLRP3 IL6 CRP
9 optic papillitis 30.5 NLRP3 CRP
10 iridocyclitis 30.4 IL6 CRP
11 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 30.3 NLRP3 IL1RN
12 scleritis 30.2 IL1RN CRP
13 hyper-igd syndrome 30.2 IL1RN CRP
14 mevalonic aciduria 30.2 NLRP3 IL1RN
15 blau syndrome 30.2 NLRP3 IL1RN
16 juvenile arthritis 30.1 IL6 IL1R1 CRP
17 exanthem 30.0 NLRP3 IL6 IL1RN CRP
18 brucellosis 30.0 IL6 IL1RN CRP
19 chickenpox 30.0 IL6 CRP
20 panuveitis 29.9 IL6 CRP
21 rosacea 29.9 IL6 CRP
22 aseptic meningitis 29.9 NLRP3 IL1RN IL1R1 CRP
23 chronic meningitis 29.8 NLRP3 IL1RN CRP
24 pyoderma gangrenosum 29.7 NLRP3 IL1RN IL1R1
25 gout 29.7 NLRP3 IL6 IL1R1
26 papilledema 29.6 NLRP3 IL1RN IL1R1 CRP
27 gastroenteritis 29.6 IL6 IL1RN CRP
28 arthropathy 29.4 NLRP3 IL6 IL1RN CRP
29 juvenile rheumatoid arthritis 29.4 IL6 IL1RN IL1R1 CRP
30 periodic fever, familial, autosomal dominant 29.4 NLRP3 IL6 IL1RN
31 pericarditis 29.3 IL6 IL1RN CRP
32 amyloidosis 29.3 SAA4 NLRP3 IL6 IL1RN CRP
33 pyoderma 29.2 NLRP3 IL1RN IL1R1 CRP
34 eye disease 29.1 IL6 IL1RN IL1R1 CRP
35 autoimmune disease 29.0 IL6 IL1RN IL1R1 CRP
36 arthritis 28.8 IL6 IL1RN IL1R1 CRP
37 adult-onset still's disease 28.5 NLRP3 IL6 IL1RN IL1R1 CRP
38 familial mediterranean fever 28.4 SAA4 NLRP3 IL6 IL1RN IL1R1 CRP
39 proteasome-associated autoinflammatory syndrome 1 28.3 NLRP3 IL6 IL1RN IL1R1 CRP
40 catastrophic antiphospholipid syndrome 11.6
41 autoinflammatory syndrome 10.9
42 sensorineural hearing loss 10.5
43 branchiootic syndrome 1 10.5
44 uveitis 10.5
45 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
46 conjunctivitis 10.4
47 systemic onset juvenile idiopathic arthritis 10.4
48 triiodothyronine receptor auxiliary protein 10.4
49 renal infectious disease 10.3 NLRP3 CRP
50 physical urticaria 10.2 NLRP3 CRP

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



Diseases related to Cryopyrin-Associated Periodic Syndrome
Sources

Symptoms & Phenotypes for Cryopyrin-Associated Periodic Syndrome

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Drugs & Therapeutics for Cryopyrin-Associated Periodic Syndrome

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

(show top 50) (show all 453)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
2
Metformin Approved Phase 4 657-24-9 14219 4091
3
Trandolapril Approved Phase 4 87679-37-6 5484727
4
Captopril Approved Phase 4 62571-86-2 44093
5 Taurolidine Approved, Investigational Phase 4 19388-87-5
6
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
7
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
8
Didanosine Approved Phase 4 69655-05-6 50599
9
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
10
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
11
Histamine Approved, Investigational Phase 4 51-45-6 774
12
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
13
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
14
Citalopram Approved Phase 4 59729-33-8 2771
15
Sertraline Approved Phase 4 79617-96-2 68617
16
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
17
Topiramate Approved Phase 4 97240-79-4 5284627
18
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
19
Mirtazapine Approved Phase 4 85650-52-8, 61337-67-5 4205
20
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
21
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
22
Cocaine Approved, Illicit Phase 4 50-36-2 446220 5760
23
Iodine Approved, Investigational Phase 4 7553-56-2 807
24
Povidone Approved Phase 4 9003-39-8
25
Povidone-iodine Approved Phase 4 25655-41-8
26
Ziprasidone Approved Phase 4 146939-27-7 60854
27
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
28
Levetiracetam Approved Phase 4 102767-28-2 441341
29
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
30
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
31
Simvastatin Approved Phase 4 79902-63-9 54454
32
Memantine Approved, Investigational Phase 4 19982-08-2 4054
33
tannic acid Approved Phase 4 1401-55-4
34
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
35
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 27284 23925
36
Ferrous fumarate Approved Phase 4 141-01-5
37
Promethazine Approved, Investigational Phase 4 60-87-7 4927
38
Suvorexant Approved, Investigational Phase 4 1030377-33-3
39
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
40
Colestipol Approved Phase 4 26658-42-4
41
Prazosin Approved Phase 4 19216-56-9 4893
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 52-01-7, 1952-01-7 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 456)
# 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 Placebo Controlled Study Using Lovaza as Treatment for Non-Alcoholic Fatty Liver Disease Unknown status NCT00941642 Phase 4 Lovaza;placebo control
5 Evaluate the Efficacy of Xuebijing Injection in Acute Exacerbations of COPD：a Multicentre Randomised Controlled Trial Unknown status NCT02937974 Phase 4 Xuebijing;Placebo
6 Dose Related Decrease in Triglycerides in Patients With Hypertriglyceridemia and Treated With Lovaza. Unknown status NCT00934219 Phase 4 Omega-3-Acid Ethyl Esters
7 Taurolidine Citrate and Unfractionated Heparin Combination Versus Unfractionated Heparin Alone in Prevention of Inflammation in Hemodialysis Catheters. Unknown status NCT03539718 Phase 4 Taurolidine heparin;Heparin Sodium
8 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
9 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
10 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
11 Effect Of Dexmedetomidine Infusion On Sublingual Microcirculation In Patients Undergoing On Pump Coronary Artery Bypass Graft Surgery Unknown status NCT02714725 Phase 4 Dexmedetomidine;Placebo for Dexmedetomidine normal saline infusion;Propofol infusion
12 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
13 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
14 A Trial to Determine the Long-term Durability of Virologic Suppression in Kaletra Recipients With Imperfect Adherence Completed NCT00785616 Phase 4
15 Cathflo Activase (Alteplase) Pediatric Study (CAPS) Completed NCT00307580 Phase 4 Cathflo Activase (Alteplase)
16 Serum Levels of Doxycycline at the Time of Abortion With Two Dosing Regimens Completed NCT00177333 Phase 4 Doxycycline
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 Topiramate in the Treatment of Post Traumatic Stress Disorder (PTSD) Completed NCT00203463 Phase 4 topiramate
19 A Placebo-controlled Trial of Adjunctive Quetiapine for Refractory PTSD Completed NCT00292370 Phase 4 Open Label (OL) Paroxetine;Placebo;Quetiapine
20 Randomized Clinical Trial to Study the Topiramate Efficacy for Posttraumatic Disorder Treatment Completed NCT00725920 Phase 4 Topiramate;placebo control group
21 An Open-Label Trial of Memantine for Cognitive Impairment in Patients With Post-Traumatic Stress Disorder Completed NCT02258828 Phase 4 Memantine;Placebo
22 Paroxetine Treatment in Outpatients With Comorbid PTSD and Substance Dependence Completed NCT00330239 Phase 4 Paroxetine CR
23 Prazosin Treatment for Combat Trauma PTSD Nightmares and Sleep Disturbance Completed NCT00108420 Phase 4 Prazosin
24 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
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 Exercise and Phytoestrogens: a Synergistic Effect on Factors Predisposing to CVD in Postmenopausal Women Completed NCT01048606 Phase 4
27 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
28 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 Completed NCT03757143 Phase 4 Povidone-Iodine-Alcohol;Chlorhexidine-Alcohol
29 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
30 Geodon (Ziprasidone) for Posttraumatic Stress Disorder Completed NCT00208208 Phase 4 Ziprasidone
31 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
32 Neural Circuits in Women With Abuse and Posttraumatic Stress Disorder Completed NCT01681849 Phase 4 Placebo;Paroxetine
33 A Placebo-Controlled Study of Mirtazapine for PTSD in OIF/OEF Veterans Completed NCT00302107 Phase 4 Mirtazapine;Placebo
34 Combined Mirtazapine and Selective Serotonin Reuptake Inhibitor (SSRI) Treatment of Post-traumatic Stress Disorder (PTSD) Completed NCT01178671 Phase 4 Mirtazapine;Sertraline
35 Atomoxetine in Comorbid ADHD/PTSD: A Pilot, Placebo-Controlled Feasibility Study Completed NCT02287038 Phase 4 Atomoxetine 80 MG
36 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
37 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
38 Efficacy and Safety of Furocyst in Patients With Poly Cystic Ovary Syndrome Completed NCT02789488 Phase 4
39 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
40 Energy Expenditure Assessment of Preterm Infant With Very Low Birth Weight Fed With Human Milk or Preterm Formula Completed NCT00769509 Phase 4
41 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
42 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
43 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
44 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)
45 Suvorexant: A Dual Orexin Receptor Antagonist for Treating Sleep Disturbance inPosttraumatic Stress Recruiting NCT03642028 Phase 4 Suvorexant
46 Treatment Effect of Colesevelam for Bile Acid Diarrhoea - a Randomised Placebo-controlled Trial Recruiting NCT03876717 Phase 4 Colesevelam Hydrochloride;Placebo oral capsule
47 Propranolol Reactivation Mismatch (PRM) Treatment for PTSD: A Pilot Study Not yet recruiting NCT03652922 Phase 4 Reactivation Mismatch
48 Administration of Prazosin to Prevent PTSD After Sexual Assault Not yet recruiting NCT03997864 Phase 4 Prazosin;Placebos
49 PTSD Symptom Reduction by Propranolol Given After Memory Activation Terminated NCT00645450 Phase 4 Propranolol;Placebo
50 The Combination Ambrisentan Plus Spironolactone in Pulmonary Arterial Hypertension Study (The CAPS-PAH Study) Terminated NCT02253394 Phase 4 Ambrisentan plus Spironolactone;Ambrisentan plus Placebo

Search NIH Clinical Center for Cryopyrin-Associated Periodic Syndrome

Inferred drug relations via UMLS 71 / NDF-RT 50 :


anakinra
Sources

Genetic Tests for Cryopyrin-Associated Periodic Syndrome

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Sources

Anatomical Context for Cryopyrin-Associated Periodic Syndrome

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

40
Brain, Skin, Eye, Testes, Heart, Breast, Colon
Sources

Publications for Cryopyrin-Associated Periodic Syndrome

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Articles related to Cryopyrin-Associated Periodic Syndrome:

(show top 50) (show all 193)
# Title Authors PMID Year
1
[Urticaria in children]. 61
32346454 2020
2
Neutrophilic urticarial dermatosis: an entity bridging monogenic and polygenic autoinflammatory disorders, and beyond. 61
31562783 2020
3
Diagnostic Rate of Autoinflammatory Diseases Evaluated by Fever Patterns in Pediatric- and Adult-Onset Patients. 61
32073516 2020
4
Validation of the new classification criteria for hereditary recurrent fever in an independent cohort: experience from the JIR Cohort Database. 61
32125423 2020
5
Performance of the new 'Eurofever/PRINTO classification criteria' in FMF patients. 61
31471011 2020
6
Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS: a German PRO-KIND initiative. 61
32066461 2020
7
Increased Prevalence of NLRP3 Q703K Variant Among Patients With Autoinflammatory Diseases: An International Multicentric Study. 61
32477355 2020
8
Designation of Autoinflammatory Skin Manifestations With Specific Genetic Backgrounds. 61
32256502 2020
9
Ocular Involvement in Muckle-Wells Syndrome. 61
30556770 2020
10
Canakinumab in colchicine resistant familial Mediterranean fever and other pediatric rheumatic diseases. 61
32419407 2020
11
The Long-Term Efficacy of Cochlear Implantation for Hearing Loss in Muckel-Wells Syndrome. 61
31846928 2019
12
Cryopyrin-associated periodic syndrome presenting with posterior scleritis. 61
31170293 2019
13
Magnetic resonance imaging findings in a patient with cryopyrin-associated periodic syndrome: A rare hereditary multi-system inflammatory disorder. 61
31337256 2019
14
Rapid and Sustained Long-Term Efficacy and Safety of Canakinumab in Patients With Cryopyrin-Associated Periodic Syndrome Ages Five Years and Younger. 61
31161734 2019
15
Recognising and understanding cryopyrin-associated periodic syndrome in adults. 61
31597069 2019
16
The NLRP3 Inflammasome as a Pharmacological Target. 61
31335445 2019
17
Lessons From the Misdiagnosis of Cryopyrin-Associated Periodic Syndrome as an Infection: Importance of an Early and Precise Diagnosis. 61
31524846 2019
18
MCC950/CRID3 potently targets the NACHT domain of wild-type NLRP3 but not disease-associated mutants for inflammasome inhibition. 61
31525186 2019
19
Dosage Considerations for Canakinumab in Children With Periodic Fever Syndromes. 61
30447083 2019
20
Low-frequency mosaicism in cryopyrin-associated periodic fever syndrome: mosaicism in systemic autoinflammatory diseases. 61
31185077 2019
21
Targeting cytokines to treat autoinflammatory diseases. 61
30394352 2019
22
Somatic mosaicism in adult-onset TNF receptor-associated periodic syndrome (TRAPS). 61
31397119 2019
23
[Reactivation of the cryopyrin-associated periodic syndrome after vaccination in a patient who is a candidate for immunosuppression]. 61
31241279 2019
24
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. 61
31287007 2019
25
The First Case Series of Cryopyrin-Associated Periodic Syndrome in Korea. 61
31172726 2019
26
Severe cryopyrin-associated periodic syndrome first characterized by early childhood-onset sensorineural hearing loss - Case report and literature review. 61
30772614 2019
27
Spectrum of the neurologic manifestations in childhood-onset cryopyrin-associated periodic syndrome. 61
30967326 2019
28
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. 61
30385706 2019
29
A Rare Case of Cryopyrin-associated Periodic Syndrome in an Elderly Woman with NLRP3 and MEFV Mutations. 61
30568124 2019
30
CAPS and NLRP3. 61
31077002 2019
31
Early canakinumab therapy for the sensorineural deafness in a family with Muckle-Wells syndrome due to a novel mutation of NLRP3 gene. 61
30338413 2019
32
Skin and Systemic Inflammation in Schnitzler's Syndrome Are Associated With Neutrophil Extracellular Trap Formation. 61
30967871 2019
33
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases. 61
32082075 2019
34
[Renal amyloidosis revealing a cryopyrin associated periodic syndrome]. 61
30236822 2018
35
Analysis of NLRP3, MVK and TNFRSF1A variants in adult Greek patients with autoinflammatory symptoms. 61
30418111 2018
36
Chronic urticaria in infants as the first manifestation of autoinflammatory disease. 61
30168189 2018
37
Neonatal urticaria: Could it be CAPS? 61
30187963 2018
38
IL-1β Enhances Wnt Signal by Inhibiting DKK1. 61
29956067 2018
39
Progressive waves of IL-1β release by primary human monocytes via sequential activation of vesicular and gasdermin D-mediated secretory pathways. 61
30352992 2018
40
Cryopyrin-associated periodic syndrome (CAPS) in a patient with NLRP3 T348M mutation. 61
30184330 2018
41
CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME-ASSOCIATED UVEITIS AND PAPILLITIS. 61
30134363 2018
42
Erythema nodosum in an adolescent patient with cryopyrin-associated periodic syndrome. 61
29988644 2018
43
Flare of a Cryopyrin-associated Periodic Syndrome Following Vaccination with Neisseria Meningitidis Polysaccharides. 61
29858461 2018
44
A Comprehensive Overview of the Hereditary Periodic Fever Syndromes. 61
27068928 2018
45
[Periodic fever syndromes]. 61
29808817 2018
46
Selective inhibition of the p38α MAPK-MK2 axis inhibits inflammatory cues including inflammasome priming signals. 61
29549113 2018
47
Decreased quality of life and societal impact of cryopyrin-associated periodic syndrome treated with canakinumab: a questionnaire based cohort study. 61
29678136 2018
48
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. 61
29366613 2018
49
[NLRC4 associated autoinflammatory diseases: A systematic review of the current literature]. 61
29496273 2018
50
Cryopyrin-associated periodic syndrome in early childhood can be successfully treated with interleukin-1 blockades. 61
29331074 2018
Sources

Variations for Cryopyrin-Associated Periodic Syndrome

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ClinVar genetic disease variations for Cryopyrin-Associated Periodic Syndrome:

6 (show top 50) (show all 129) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NLRP3 NM_001243133.2(NLRP3):c.905T>G (p.Phe302Cys)SNV Pathogenic 837881 1:247587656-247587656 1:247424354-247424354
2 NLRP3 NM_004895.4(NLRP3):c.784C>T (p.Arg262Trp)SNV Pathogenic 4374 rs121908150 1:247587529-247587529 1:247424227-247424227
3 NLRP3 NM_004895.4(NLRP3):c.913G>A (p.Asp305Asn)SNV Pathogenic 4377 rs121908153 1:247587658-247587658 1:247424356-247424356
4 NLRP3 NM_004895.4(NLRP3):c.1064T>C (p.Leu355Pro)SNV Pathogenic 4379 rs28937896 1:247587809-247587809 1:247424507-247424507
5 NLRP3 NM_004895.4(NLRP3):c.1322C>T (p.Ala441Val)SNV Pathogenic 4370 rs121908146 1:247588067-247588067 1:247424765-247424765
6 NLRP3 NM_004895.4(NLRP3):c.1049C>T (p.Thr350Met)SNV Pathogenic 97909 rs151344629 1:247587794-247587794 1:247424492-247424492
7 NLRP3 NM_004895.4(NLRP3):c.1313C>T (p.Thr438Ile)SNV Pathogenic 97924 rs180177433 1:247588058-247588058 1:247424756-247424756
8 NLRP3 NM_004895.4(NLRP3):c.983G>A (p.Gly328Glu)SNV Pathogenic 97992 rs180177456 1:247587728-247587728 1:247424426-247424426
9 NLRP3 NM_004895.4(NLRP3):c.1579G>A (p.Glu527Lys)SNV Likely pathogenic 97939 rs180177458 1:247588324-247588324 1:247425022-247425022
10 NLRP3 NM_004895.4(NLRP3):c.926G>T (p.Gly309Val)SNV Likely pathogenic 97985 rs180177468 1:247587671-247587671 1:247424369-247424369
11 NLRP3 NM_004895.4(NLRP3):c.680C>T (p.Ala227Val)SNV Conflicting interpretations of pathogenicity 97966 rs180177493 1:247587425-247587425 1:247424123-247424123
12 NLRP3 NM_004895.4(NLRP3):c.943A>G (p.Ile315Val)SNV Conflicting interpretations of pathogenicity 97989 rs180177501 1:247587688-247587688 1:247424386-247424386
13 NLRP3 NM_004895.4(NLRP3):c.1469G>A (p.Arg490Lys)SNV Conflicting interpretations of pathogenicity 97934 rs145268073 1:247588214-247588214 1:247424912-247424912
14 NLRP3 NM_004895.4(NLRP3):c.2182A>G (p.Ser728Gly)SNV Conflicting interpretations of pathogenicity 234290 rs147946775 1:247592912-247592912 1:247429610-247429610
15 NLRP3 NM_004895.4(NLRP3):c.2431G>A (p.Gly811Ser)SNV Conflicting interpretations of pathogenicity 234291 rs141389711 1:247597508-247597508 1:247434206-247434206
16 NLRP3 NM_004895.4(NLRP3):c.2494C>A (p.Leu832Ile)SNV Conflicting interpretations of pathogenicity 234292 rs114158404 1:247597571-247597571 1:247434269-247434269
17 NLRP3 NM_004895.4(NLRP3):c.2861C>T (p.Thr954Met)SNV Conflicting interpretations of pathogenicity 234293 rs139814109 1:247607973-247607973 1:247444671-247444671
18 NLRP3 NM_004895.4(NLRP3):c.214G>A (p.Val72Met)SNV Conflicting interpretations of pathogenicity 245593 rs117287351 1:247582310-247582310 1:247419008-247419008
19 NLRP3 NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys)SNV Conflicting interpretations of pathogenicity 259561 rs35829419 1:247588858-247588858 1:247425556-247425556
20 NLRP3 NM_004895.4(NLRP3):c.2191C>A (p.Arg731=)SNV Conflicting interpretations of pathogenicity 296949 rs148590318 1:247592921-247592921 1:247429619-247429619
21 NLRP3 NM_004895.4(NLRP3):c.1312A>G (p.Thr438Ala)SNV Conflicting interpretations of pathogenicity 97921 rs180177465 1:247588057-247588057 1:247424755-247424755
22 NLRP3 NM_004895.4(NLRP3):c.598G>A (p.Val200Met)SNV Conflicting interpretations of pathogenicity 4371 rs121908147 1:247587343-247587343 1:247424041-247424041
23 NLRP3 NM_004895.4(NLRP3):c.1645A>T (p.Ser549Cys)SNV Conflicting interpretations of pathogenicity 536887 rs139833874 1:247588390-247588390 1:247425088-247425088
24 NLRP3 NM_004895.4(NLRP3):c.437G>A (p.Ser146Asn)SNV Uncertain significance 567286 rs768059813 1:247587182-247587182 1:247423880-247423880
25 NLRP3 NM_004895.4(NLRP3):c.616G>A (p.Glu206Lys)SNV Uncertain significance 576611 rs1558189985 1:247587361-247587361 1:247424059-247424059
26 NLRP3 NM_004895.4(NLRP3):c.721T>A (p.Leu241Met)SNV Uncertain significance 571741 rs1395728949 1:247587466-247587466 1:247424164-247424164
27 NLRP3 NM_004895.4(NLRP3):c.2126C>A (p.Pro709Gln)SNV Uncertain significance 583341 rs200378519 1:247588871-247588871 1:247425569-247425569
28 NLRP3 NM_004895.4(NLRP3):c.1667G>A (p.Arg556Gln)SNV Uncertain significance 580758 rs1558192523 1:247588412-247588412 1:247425110-247425110
29 NLRP3 NM_004895.4(NLRP3):c.2101C>T (p.Leu701Phe)SNV Uncertain significance 578380 rs536840312 1:247588846-247588846 1:247425544-247425544
30 NLRP3 NM_004895.4(NLRP3):c.1820A>T (p.Glu607Val)SNV Uncertain significance 570991 rs745564372 1:247588565-247588565 1:247425263-247425263
31 NLRP3 NM_004895.4(NLRP3):c.2140G>T (p.Ala714Ser)SNV Uncertain significance 573185 rs200474460 1:247588885-247588885 1:247425583-247425583
32 NLRP3 NM_004895.4(NLRP3):c.2674G>T (p.Val892Leu)SNV Uncertain significance 618256 rs193085132 1:247607278-247607278 1:247443976-247443976
33 NLRP3 NM_004895.4(NLRP3):c.309T>A (p.Asn103Lys)SNV Uncertain significance 658304 1:247586557-247586557 1:247423255-247423255
34 NLRP3 NM_004895.4(NLRP3):c.769_770del (p.Phe257fs)deletion Uncertain significance 651356 1:247587514-247587515 1:247424212-247424213
35 NLRP3 NM_004895.4(NLRP3):c.854C>T (p.Pro285Leu)SNV Uncertain significance 643421 1:247587599-247587599 1:247424297-247424297
36 NLRP3 NM_004895.4(NLRP3):c.918G>C (p.Glu306Asp)SNV Uncertain significance 640409 1:247587663-247587663 1:247424361-247424361
37 NLRP3 NM_004895.4(NLRP3):c.1484A>G (p.Gln495Arg)SNV Uncertain significance 663799 1:247588229-247588229 1:247424927-247424927
38 NLRP3 NM_004895.4(NLRP3):c.1594A>G (p.Met532Val)SNV Uncertain significance 652418 1:247588339-247588339 1:247425037-247425037
39 NLRP3 NM_004895.4(NLRP3):c.1672G>A (p.Val558Met)SNV Uncertain significance 660895 1:247588417-247588417 1:247425115-247425115
40 NLRP3 NM_004895.4(NLRP3):c.1703T>A (p.Phe568Tyr)SNV Uncertain significance 640233 1:247588448-247588448 1:247425146-247425146
41 NLRP3 NM_004895.4(NLRP3):c.1717T>G (p.Leu573Val)SNV Uncertain significance 642979 1:247588462-247588462 1:247425160-247425160
42 NLRP3 NM_004895.4(NLRP3):c.1835T>C (p.Ile612Thr)SNV Uncertain significance 657029 1:247588580-247588580 1:247425278-247425278
43 NLRP3 NM_004895.4(NLRP3):c.1895A>T (p.Tyr632Phe)SNV Uncertain significance 654858 1:247588640-247588640 1:247425338-247425338
44 NLRP3 NM_004895.4(NLRP3):c.1982T>G (p.Met661Arg)SNV Uncertain significance 643124 1:247588727-247588727 1:247425425-247425425
45 NLRP3 NM_004895.4(NLRP3):c.2018G>C (p.Cys673Ser)SNV Uncertain significance 661151 1:247588763-247588763 1:247425461-247425461
46 NLRP3 NM_004895.4(NLRP3):c.2597C>T (p.Ala866Val)SNV Uncertain significance 659147 1:247599370-247599370 1:247436068-247436068
47 NLRP3 NM_004895.4(NLRP3):c.2813A>G (p.His938Arg)SNV Uncertain significance 666018 1:247607417-247607417 1:247444115-247444115
48 NLRP3 NM_004895.4(NLRP3):c.2914C>T (p.Arg972Ter)SNV Uncertain significance 651300 1:247608026-247608026 1:247444724-247444724
49 NLRP3 NM_004895.4(NLRP3):c.403+5G>ASNV Uncertain significance 653385 1:247586656-247586656 1:247423354-247423354
50 NLRP3 NM_004895.4(NLRP3):c.2156+4A>GSNV Uncertain significance 655097 1:247588905-247588905 1:247425603-247425603
Sources

Expression for Cryopyrin-Associated Periodic Syndrome

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

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

36
# Name Kegg Source Accession
1 NOD-like receptor signaling pathway hsa04621

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

# Super pathways Score Top Affiliating Genes
1
Toll-Like receptor Signaling Pathways 64
Show member pathways
 11.89 NLRP3 IL6 IL1RN IL1R1
2
Folate Metabolism 1
Show member pathways
 11.83 SAA4 IL6 CRP
3
Pathogenic Escherichia coli infection 36
11.62 NLRP3 IL6 IL1R1
4
IL1 and megakaryocytes in obesity 1
10.77 NLRP3 IL1R1
5
Overview of nanoparticle effects 1
10.54 IL6 CRP
6
Interleukin-10 signaling 65
10.49 IL6 IL1RN IL1R1
Sources

GO Terms for Cryopyrin-Associated Periodic Syndrome

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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:

# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.58 IL6 IL1RN IL1R1
2 defense response to Gram-positive bacterium GO:0050830 9.5 NLRP3 IL6 CRP
3 negative regulation of lipid storage GO:0010888 9.37 IL6 CRP
4 negative regulation of interleukin-1-mediated signaling pathway GO:2000660 9.26 IL6 IL1RN
5 positive regulation of T-helper 2 cell cytokine production GO:2000553 9.16 NLRP3 IL6
6 acute-phase response GO:0006953 9.13 SAA4 IL6 CRP
7 inflammatory response GO:0006954 9.02 NLRP3 IL6 IL1RN IL1R1 CRP
Sources

Sources for Cryopyrin-Associated Periodic Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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