CAPS
MCID: CRY008
MIFTS: 48

Cryopyrin-Associated Periodic Syndrome (CAPS)

Categories: Blood diseases, Bone diseases, Eye diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Cryopyrin-Associated Periodic Syndrome

MalaCards integrated aliases for Cryopyrin-Associated Periodic Syndrome:

Name: Cryopyrin-Associated Periodic Syndrome 19 58 75
Cryopyrin-Associated Periodic Syndromes 42 71 33
Cryopyrinopathy 19 42 58
Caps 19 42 58
Nlrp3-Associated Systemic Autoinflammatory Disease 58
Caps - [cryopyrin-Associated Periodic Syndromes] 33
Nlrp3-Associated Autoinflammatory Disease 42
Cryopyrin Associated Periodic Syndrome 5
Cryopyrinopathies 33

Characteristics:


Inheritance:

Autosomal dominant 58

Prevelance:

1-9/1000000 (France) 58

Age Of Onset:

Adolescent,Childhood,Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases
Rare immunological diseases


External Ids:

MESH via Orphanet 44 D056587
ICD10 via Orphanet 32 E85.0
UMLS via Orphanet 72 C2316212
Orphanet 58 ORPHA208650
ICD11 33 2139918612
UMLS 71 C2316212

Summaries for Cryopyrin-Associated Periodic Syndrome

MedlinePlus Genetics: 42 Cryopyrin-associated periodic syndromes (CAPS) are a group of conditions that have overlapping signs and symptoms and the same genetic cause. The group includes three conditions known as familial cold autoinflammatory syndrome type 1 (FCAS1), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disorder (NOMID). These conditions were once thought to be distinct disorders but are now considered to be part of the same condition spectrum. FCAS1 is the least severe form of CAPS, MWS is intermediate in severity, and NOMID is the most severe form.The signs and symptoms of CAPS affect multiple body systems. Generally, CAPS are characterized by periodic episodes of skin rash, fever, and joint pain. These episodes can be triggered by exposure to cold temperatures, fatigue, other stressors, or they may arise spontaneously. Episodes can last from a few hours to several days. These episodes typically begin in infancy or early childhood and persist throughout life.While the CAPS spectrum shares similar signs and symptoms, the individual conditions tend to have distinct patterns of features. People with FCAS1 are particularly sensitive to the cold, and exposure to cold temperatures can trigger a painful or burning rash. The rash usually affects the torso and limbs but may spread to the rest of the body. In addition to fever and joint pain, other possible symptoms include muscle aches, chills, drowsiness, eye redness, headache, and nausea.Individuals with MWS develop the typical periodic episodes of skin rash, fever, and joint pain after cold exposure, although episodes may occur spontaneously or all the time. Additionally, they can develop progressive hearing loss in their teenage years. Other features of MWS include skin lesions or kidney damage from abnormal deposits of a protein called amyloid (amyloidosis).In people with NOMID, the signs and symptoms of the condition are usually present from birth and persists throughout life. In addition to skin rash and fever, affected individuals may have joint inflammation, swelling, and joint deformities called contractures that may restrict movement. People with NOMID typically have headaches, seizures, and cognitive impairment resulting from chronic meningitis, which is inflammation of the tissue that covers and protects the brain and spinal cord (meninges). Other features of NOMID include eye problems, short stature, distinctive facial features, and kidney damage caused by amyloidosis.

MalaCards based summary: Cryopyrin-Associated Periodic Syndrome, also known as cryopyrin-associated periodic syndromes, is related to cinca syndrome 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 Toll-Like receptor Signaling Pathways and IL1 and megakaryocytes in obesity. The drugs Plasminogen and Ambrisentan have been mentioned in the context of this disorder. Affiliated tissues include skin, spinal cord and kidney, and related phenotype is Increased shRNA abundance (Z-score > 2).

GARD: 19 Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms).

Orphanet: 58 Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms).

Wikipedia: 75 Cryopyrin-associated periodic syndrome (CAPS) 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 124)
# Related Disease Score Top Affiliating Genes
1 cinca syndrome 32.4 NLRP3 IL1R1
2 muckle-wells syndrome 32.3 NLRP3 IL1R1
3 familial cold autoinflammatory syndrome 1 32.1 NLRP3 IL1R1
4 familial cold autoinflammatory syndrome 31.8 NLRP3 IL1R1
5 familial mediterranean fever 30.5 NLRP3 IL1R1
6 aseptic meningitis 30.4 NLRP3 IL1R1
7 sensorineural hearing loss 30.4 NLRP3 IL1R1
8 papilledema 30.2 NLRP3 IL1R1
9 adult-onset still's disease 30.0 NLRP3 IL1R1
10 arthritis 29.9 NLRP3 IL1R1
11 pyoderma 29.8 NLRP3 IL1R1
12 periodic fever, familial, autosomal dominant 29.8 NLRP3 IL1R1
13 pyoderma gangrenosum 29.8 NLRP3 IL1R1
14 proteasome-associated autoinflammatory syndrome 1 29.8 NLRP3 IL1R1
15 gout 29.7 NLRP3 IL1R1
16 behcet syndrome 29.7 NLRP3 IL1R1
17 skin disease 29.5 NLRP3 IL1R1
18 catastrophic antiphospholipid syndrome 11.0
19 exanthem 10.8
20 wells syndrome 10.8
21 autoinflammatory syndrome 10.8
22 amyloidosis 10.7
23 urticaria 10.7
24 serum amyloid a amyloidosis 10.5
25 uveitis 10.5
26 twin-reversed arterial perfusion sequence 10.5
27 conjunctivitis 10.4
28 arthropathy 10.4
29 juvenile rheumatoid arthritis 10.4
30 osteoarthritis 10.4
31 amyloidosis, familial visceral 10.3
32 keratitis, hereditary 10.3
33 brucellosis 10.3
34 eye disease 10.3
35 systemic onset juvenile idiopathic arthritis 10.3
36 osteomyelitis, sterile multifocal, with periostitis and pustulosis 10.3
37 autoimmune disease 10.2
38 keratoendotheliitis fugax hereditaria 10.2
39 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2
40 ceroid lipofuscinosis, neuronal, 5 10.2
41 hyper-igd syndrome 10.2
42 mevalonic aciduria 10.2
43 vasculitis 10.2
44 intracranial hypertension 10.2
45 cold urticaria 10.2
46 polydactyly, postaxial, type a1 10.1
47 renal hypodysplasia/aplasia 1 10.1
48 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 10.1
49 chronic meningitis 10.1
50 tetanus 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

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

25 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.36 NLRP3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.36 IL1R1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.36 NLRP3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.36 NLRP3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.36 NLRP3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.36 IL1R1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.36 NLRP3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.36 NLRP3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.36 NLRP3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.36 IL1R1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.36 IL1R1

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 72)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Plasminogen Approved Phase 4 9001-91-6
2
Ambrisentan Approved, Investigational Phase 4 177036-94-1 6918493
3
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
4 Fibrinolytic Agents Phase 4
5 Tissue Plasminogen Activator Phase 4
6 Hormones Phase 4
7 Liver Extracts Phase 4
8 Antihypertensive Agents Phase 4
9 Hormone Antagonists Phase 4
10 Diuretics, Potassium Sparing Phase 4
11 diuretics Phase 4
12 Natriuretic Peptide, Brain Phase 4
13 Mineralocorticoids Phase 4
14 Mineralocorticoid Receptor Antagonists Phase 4
15
Ginseng Investigational, Nutraceutical Phase 4 50647-08-0
16
Rilonacept Approved, Investigational Phase 3 501081-76-1
17
Calcium polycarbophil Approved Phase 2, Phase 3 126040-58-2
18 Cinnamon Approved Phase 2, Phase 3
19
Propofol Approved, Investigational, Vet_approved Phase 3 2078-54-8 4943
20 Analgesics Phase 3
21 Anti-Inflammatory Agents Phase 3
22 Antibodies, Monoclonal Phase 3
23 Psyllium Phase 2, Phase 3
24 Juzentaihoto Phase 2, Phase 3
25 Mitogens Phase 2, Phase 3
26 Analgesics, Opioid Phase 3
27 Narcotics Phase 3
28 Immunoglobulins Phase 3
29 Antibodies Phase 3
30
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
31
Flecainide Approved, Withdrawn Phase 2 54143-55-4 3356
32
Imipramine Approved Phase 2 50-49-7 3696
33
Moricizine Approved, Investigational, Withdrawn Phase 2 31883-05-3 34633
34
Encainide Approved, Investigational, Withdrawn Phase 2 66778-36-7 48041
35
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643
36
Histamine Approved, Investigational Phase 2 51-45-6 774
37
Tranilast Investigational Phase 2 53902-12-8 5282230
38 Adrenergic Agents Phase 2
39 Anti-Arrhythmia Agents Phase 2
40 Sodium Channel Blockers Phase 2
41 Psychotropic Drugs Phase 2
42 Antidepressive Agents, Tricyclic Phase 2
43 Antidepressive Agents Phase 2
44 Calcineurin Inhibitors Phase 2
45 Immunosuppressive Agents Phase 2
46 Immunologic Factors Phase 2
47 Neurotransmitter Agents Phase 2
48 Anti-Allergic Agents Phase 2
49 Calcium, Dietary Phase 2
50 Platelet Aggregation Inhibitors Phase 2

Interventional clinical trials:

(show top 50) (show all 54)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 Cathflo Activase (Alteplase) Pediatric Study (CAPS) Completed NCT00307580 Phase 4 Cathflo Activase (Alteplase)
4 The Combination Ambrisentan Plus Spironolactone in Pulmonary Arterial Hypertension Study (The CAPS-PAH Study) Terminated NCT02253394 Phase 4 Ambrisentan plus Spironolactone;Ambrisentan plus Placebo
5 An Open-label, Long-term Safety and Efficacy Study of ACZ885 (Anti-interleukin-1β Monoclonal Antibody) Administered for at Least 6 Months in Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT00685373 Phase 3 Canakinumab (ACZ885)
6 An Open-label, Efficacy and Safety Study of Canakinumab (Anti-interleukin-1β Monoclonal Antibody) Administered for 6 Months (24 Weeks) in Japanese Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease, Followed by an Extension Phase to Provide Canakinumab to Study Patients Until it is Approved and Marketed in Japan Completed NCT00991146 Phase 3 canakinumab
7 An Open-label Extension Study to Assess Efficacy, Safety and Tolerability of Canakinumab and the Efficacy and Safety of Childhood Vaccinations in Patients With Cryopyrin Associated Periodic Syndromes (CAPS) Completed NCT01576367 Phase 3
8 A One-year Open-label, Multicenter Trial to Assess Efficacy, Safety and Tolerability of Canakinumab (ACZ885) and the Efficacy and Safety of Childhood Vaccinations in Patients Aged 4 Years or Younger With Cryopyrin Associated Periodic Syndromes (CAPS) Completed NCT01302860 Phase 3 ACZ885
9 An Open Label Study to Assess the Safety, Tolerability and Efficacy of Canakinumab (ACZ885) in Patients Aged 4 Years or Older Diagnosed With Cryopyrin-associated Periodic Syndromes (CAPS) in Canada Completed NCT01105507 Phase 3 canakinumab (company code: ACZ885D)
10 IL1T-AI-0505: A Multi-center, Double-Blind, Placebo-Controlled Study of the Safety, Tolerability, & Efficacy of Rilonacept in Subjects With Cryopyrin-Associated Periodic Syndromes (CAPS) Using Parallel Group & Randomized Withdrawal Designs Completed NCT00288704 Phase 3 rilonacept 160 mg;Placebo
11 A Three-part,Multicenter Study,With a Randomized,Double-blind,Placebo Controlled,Withdrawal Design in Part II to Assess Efficacy,Safety,and Tolerability of ACZ885(Anti-interleukin-1beta Monoclonal Antibody)in Patients With Muckle-Wells Syndrome Completed NCT00465985 Phase 3 ACZ885;Placebo
12 Efficacy and Safety of Ojeok-san on Korean Patients With Cold Hypersensitivity in the Hands and Feet - A Randomized, Double-blinded, Placebo Controlled, Multi-center Pilot Study Completed NCT03083522 Phase 3 Ojeok-San;Placebo
13 Efficacy and Safety of Ucha-Shinki-Hwan on Korean Patients With Cold Hypersensitivity in the Hands and Feet-Double Blinded, Randomized, Multicenter, Placebo Controlled Clinical Trial Completed NCT03790033 Phase 2, Phase 3 Ucha-Shinki-Hwan;Placebo
14 Efficacy and Safety of Sipjeondaebo-tang on Korean Patients With Cold Hypersensitivity in the Hands and Feet (SDT) Completed NCT03374345 Phase 2, Phase 3 Sipjeondaebo-tang Granule;Placebo
15 Multi-center Pivotal Clinical Trial to Compare the Safety and Effectiveness of Procedural Sedation in GI Endoscopy: A Computer-Assisted Personalized Sedation (CAPS) Device Versus Current Standard of Care Completed NCT00452426 Phase 3
16 A Prospective, Randomized, Controlled, Double-Blind Study That Evaluates the Safety and Efficacy of Three Active REVIAN Caps Versus a Non-Active REVIAN Cap (Sham) in Participants With Pattern Hair Loss (Androgenic Alopecia) Completed NCT04019795 Phase 3
17 Heat Loss Prevention in Delivery Room: a Prospective, Randomised, Controlled Trial of Polyethylene Caps in Very Preterm Infants Completed NCT00930917 Phase 3
18 A Multi-Center, Open Label, 24-Month Treatment Study to Establish the Safety, Tolerability, Efficacy, Pharmacokinetics of Canakinumab (Anti-IL-1 Beta Antibody) in Patients With NOMID / CINCA Syndrome Terminated NCT00770601 Phase 3 Canakinumab
19 A Phase 2a, Prospective, Open-Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of ZYIL1 in Subjects With Cryopyrin Associated Periodic Syndromes (CAPS) Completed NCT05186051 Phase 2 ZYIL1 capsule
20 A Single-Centre, Open Label Study of the Safety and Tolerability of Rilonacept in Subjects Living in Germany With Muckle-Wells Syndrome (MWS), a Cryopyrin-Associated Periodic Syndrome (CAPS), or Schnitzler Syndrome (SchS) Completed NCT01045772 Phase 2 rilonacept
21 Pilot Trial of Prevention of Persistent Alopecia Following Docetaxel by Means of Scalp Cooling (ELASTO-GEL CAPS)in Breast Cancer Patients Completed NCT00515762 Phase 2
22 PreCoCa - "Prehospital Cooling With Cool-Caps" Completed NCT00398671 Phase 2
23 Cardiac Arrhythmia Pilot Study (CAPS) Completed NCT00000504 Phase 2 encainide;moricizine;flecainide;imipramine
24 Ph 2 Double-blind, Double-dummy, Multicenter, Prospective, Rand Study of PK of LCP-Tacro™ Tablets Once Daily, Compared to Prograf® Caps, Twice Daily, for Prevention of Acute Allograft Rejection in De Novo Adult Kidney Transplant Recipients Completed NCT01666951 Phase 2 LCP-Tacro tablets;Prograf
25 Efficacy and Safety of Tranilast in Patients With Cryopyrin-Associated Periodic Syndrome (CAPS): A Single-Arm Prospective Cohort Study Recruiting NCT03923140 Phase 2 Tranilast
26 An Open-label, Single Arm Phase II Study of DFV890 to Assess the Safety, Tolerability and Efficacy in Participants With Familial Cold Auto-inflammatory Syndrome (FCAS) Recruiting NCT04868968 Phase 2 DFV890
27 An Open Label, Single Arm Trial to Evaluate the Efficacy, Safety, and Pharmacokinetics of HL2351 in Patients With Cryopyrin Associated Periodic Syndromes Terminated NCT02853084 Phase 2 HL2351
28 A Long-Term Outcome Study With the IL-1 Receptor Antagonist Anakinra/Kineret in Patients With Neonatal Onset Multisystem Inflammatory Disease (NOMID/CINCA Syndrome) A Therapeutic Approach to Study the Pathogenesis of This Disease Terminated NCT00069329 Phase 1, Phase 2 anakinra
29 A Phase 2a, Open-Label, Single-Arm Study to Investigate the Safety and Efficacy of ATI-450 for the Maintenance of Remission in Patients With Cryopyrin-Associated Periodic Syndrome (CAPS) Previously Managed With Anti-IL-1 Therapy Terminated NCT04524858 Phase 2 ATI-450
30 A Pilot Study of XOMA 052 in Familial Cold Autoinflammatory Syndrome (FCAS) / Muckle-Wells Syndrome (MWS) and Behcet's Disease (BD) Withdrawn NCT01211977 Phase 1, Phase 2 XOMA 052
31 A Phase 1, Randomised, Double-Blind, Placebo-Controlled, Single and Multiple Ascending Dose Study to Determine the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of IZD334 in Healthy Adult Participants as Well as an Open-label Cohort to Confirm the Safety, Pharmacokinetics, and Pharmacodynamics in Adult Patients With Cryopyrin-Associated Periodic Syndromes Completed NCT04086602 Phase 1 IZD334;Placebos
32 A Phase 1, Randomised, Double-Blind, Placebo Controlled, Single and Multiple Ascending Dose Study to Determine the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of Inzomelid in Healthy Adult Participants as Well as an Open Label Cohort to Confirm the Safety, Pharmacokinetics, and Pharmacodynamics of Inzomelid in Adult Patients With Cryopyrin-Associated Periodic Syndromes Completed NCT04015076 Phase 1 Inzomelid;Placebo
33 The Use of Kineret (Anakinra) in the Treatment of Familial Cold Urticaria Completed NCT00214851 Phase 1 Kineret (anakinra)
34 Comparative Open-label,Randomized, Fasting, Single Dose, Two-way Crossover Bioequivalence Study of Oseltamivir From Oseltamivir 75 mg Caps (Pharmacare PLC, Palestine) and Tamiflu® 75 mg Caps (Hoffmann-La Roche, Switzerland) Completed NCT02507648 Phase 1 Oseltamivir;Tamiflu®
35 Double-blind Randomised Placebo-controlled Study of Prolardii Gastro-resistant (GR) Caps in the Prevention and Treatment of Antibiotic-associated Diarrhoea. Unknown status NCT03256708
36 Cohort Study to Assess Electronic-caps Defined Adherence Patterns - Virological Outcome Relationship Amongst HIV-1 Infected Subjects Receiving Dolutegravir-Based Antiretroviral Therapy) Unknown status NCT02878642
37 Non-interventional PASS to Evaluate Safety of Kineret in Treatment of CAPS in Routine Clinical Care With Regard to Serious Infections, Malignancies, Injection Site Reactions, Allergic Reactions, Medication Errors Including Re-use of Syringe Completed NCT02326376 anakinra (Kineret)
38 An Open-label, Long-term, Prospective, Observational Study to Monitor the Safety and Effectiveness of Ilaris in CAPS Patients Completed NCT01213641
39 International CAPS Registry: Operated Cases and Cases With Advanced Disease Among High-risk Individuals Participating in a Pancreatic Cancer Surveillance Program; a Case-control Study Completed NCT02703545
40 Care After Pregnancy Study (CAPS): Randomized Controlled Trial of Patient Engagement After Pregnancy Completed NCT04257552
41 Coaching Alternative Parenting Strategies (CAPS) Study: Targeting Neurobiological and Behavioral Mechanisms of Self-regulation in High-risk Families Completed NCT02684903
42 Understanding the Feasibility of Ripple Health Smart Pill Caps in Clinical Settings, and the Devices' Effects on Medical Interventions. Completed NCT05192928
43 Radioprotective Light-weight Caps in the Interventional Cardiology Setting: a Randomized Controlled Trial Completed NCT01620658
44 Study on the Reduction of Catheter-related Infections by Use of Self-disinfecting Venous and Arterial Access Caps Completed NCT04534348
45 Clinical and Multi-omics Cross-phenotyping of Patients With Autoimmune and Auto-inflammatory Diseases Recruiting NCT02466217
46 Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Still'S-like Diseases, and Other Undifferentiated Autoinflammatory Diseases) Recruiting NCT02974595
47 Pathogenesis and Genetic Basis of Physical Induced Urticarial Syndromes Recruiting NCT00887939
48 Clinical Characteristic and Quality of Life Assessment in Adulthood of Patients With Cryopyrin Associated Periodic Syndrome Recruiting NCT04856540
49 The Impact of Structured Caregiver Peer Support (CaPS) on ART Adherence and Viral Suppression Among Children Living With HIV in Nigeria Recruiting NCT04222270
50 Psychometric Evaluation of the Clinician Administered PTSD Scale for DSM-5 (CAPS-5) and the PTSD Symptom Scale Interview for DSM-5 (PSSI-5) in an Active Duty and Military Veteran Sample Recruiting NCT04180930

Search NIH Clinical Center for Cryopyrin-Associated Periodic Syndrome

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


anakinra

Genetic Tests for Cryopyrin-Associated Periodic Syndrome

Anatomical Context for Cryopyrin-Associated Periodic Syndrome

Organs/tissues related to Cryopyrin-Associated Periodic Syndrome:

MalaCards : Skin, Spinal Cord, Kidney, Eye, Brain, Bone, Breast

Publications for Cryopyrin-Associated Periodic Syndrome

Articles related to Cryopyrin-Associated Periodic Syndrome:

(show top 50) (show all 10632)
# Title Authors PMID Year
1
Otological aspects of NLRP3-related autoinflammatory disorder focusing on the responsiveness to anakinra. 62 5
33020839 2021
2
Novel evidences of atypical manifestations in cryopyrin-associated periodic syndromes. 62 5
28079503 2017
3
Clinical and Molecular Phenotypes of Low-Penetrance Variants of NLRP3: Diagnostic and Therapeutic Challenges. 62 5
28692792 2017
4
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry. 62 5
29047407 2017
5
Neurology of the cryopyrin-associated periodic fever syndrome. 62 5
26931528 2016
6
NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms. 62 5
27134254 2016
7
Musculoskeletal symptoms in patients with cryopyrin-associated periodic syndromes: a large database study. 62 5
26245507 2015
8
A functional inflammasome activation assay differentiates patients with pathogenic NLRP3 mutations and symptomatic patients with low penetrance variants. 62 5
25596455 2015
9
Cell stress increases ATP release in NLRP3 inflammasome-mediated autoinflammatory diseases, resulting in cytokine imbalance. 62 5
25730877 2015
10
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes. 62 5
24326009 2015
11
Impaired cytokine responses in patients with cryopyrin-associated periodic syndrome (CAPS). 62 5
24773462 2014
12
NLRP3 activation induces ASC-dependent programmed necrotic cell death, which leads to neutrophilic inflammation. 62 5
23703389 2013
13
The schedule of administration of canakinumab in cryopyrin associated periodic syndrome is driven by the phenotype severity rather than the age. 62 5
23442610 2013
14
Hereditary autoinflammatory syndromes: a Brazilian multicenter study. 62 5
22566169 2012
15
Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France. 62 5
21109514 2011
16
Canakinumab (ACZ885, a fully human IgG1 anti-IL-1β mAb) induces sustained remission in pediatric patients with cryopyrin-associated periodic syndrome (CAPS). 62 5
21356079 2011
17
Analysis of cryopyrin-associated periodic syndromes (CAPS) in German children: epidemiological, clinical and genetic characteristics. 62 5
21058222 2010
18
Follow-up and quality of life of patients with cryopyrin-associated periodic syndromes treated with Anakinra. 62 5
20472245 2010
19
Inflammasome-mediated disease animal models reveal roles for innate but not adaptive immunity. 62 5
19501000 2009
20
A cryopyrin-associated periodic syndrome with joint destruction. 62 5
17178739 2007
21
The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. 62 5
17393462 2007
22
Early detection of sensorineural hearing loss in Muckle-Wells-syndrome. 5
26531310 2015
23
Muckle-Wells syndrome and male hypofertility: a case series. 5
22512814 2012
24
Guidelines for the genetic diagnosis of hereditary recurrent fevers. 5
22661645 2012
25
The T348M mutated form of cryopyrin is associated with defective lipopolysaccharide-induced interleukin 10 production in CINCA syndrome. 5
16100350 2005
26
IL-converting enzyme/caspase-1 inhibitor VX-765 blocks the hypersensitive response to an inflammatory stimulus in monocytes from familial cold autoinflammatory syndrome patients. 5
16081838 2005
27
Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome. 5
15801036 2005
28
Cryopyrin-induced interleukin 1beta secretion in monocytic cells: enhanced activity of disease-associated mutants and requirement for ASC. 5
15020601 2004
29
Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. 5
14630794 2004
30
Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P. 5
12522564 2003
31
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. 5
11992256 2002
32
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. 5
11687797 2001
33
Building the Toolbox of Devices to Optimize a Practice in Submucosal Endoscopy. 62
36375879 2023
34
Injectable bone cements: What benefits the combination of calcium phosphates and bioactive glasses could bring? 62
35510175 2023
35
Retinoic acid control of pax8 during renal specification of Xenopus pronephros involves hox and meis3. 62
36279927 2023
36
Decoupling the role of chemistry and microstructure in hMSCs response to an osteoinductive calcium phosphate ceramic. 62
35475029 2023
37
The effect of ethanol on fibrillar hydrogels formed by glycyrrhizic acid monoammonium salt. 62
36356444 2023
38
Health impact assessments of shipping and port-sourced air pollution on a global scale: A scoping literature review. 62
36191619 2023
39
[Adhesion of urologists to the recommendations of the French Urological Association Cancer Committee (CCAFU) in the imaging work-up of localized prostate cancer]. 62
36344379 2022
40
Dataset on modelling a synthetic oil rim reservoirs for optimizing oil production during gas cap blow down strategy. 62
36426095 2022
41
Development of Novel Markers for Yield in Hevea brasiliensis Muell. Arg. Based on Candidate Genes from Biosynthetic Pathways Associated with Latex Production. 62
35296963 2022
42
Inbreeding effects on telomeres in hatchling sand lizards (Lacerta agilis): An optimal family affair? 62
36208022 2022
43
Microplastics in Malaysian bottled water brands: Occurrence and potential human exposure. 62
36279991 2022
44
Evaluation of real-life data on the use of inhaler devices, including satisfaction and adherence to treatment, by community pharmacists in partnership with pulmonary disease specialists. 62
36332164 2022
45
Two Cases of Severe Amanita Muscaria Poisoning Including a Fatality. 62
36210279 2022
46
Carotid plaque components and other carotid artery features associated with risk of stroke: A systematic review and meta-analysis. 62
36334373 2022
47
Neurodegenerative diseases-Caps: a capsule network based early screening system for the classification of neurodegenerative diseases. 62
36397832 2022
48
In-vitro NLRP3 functional test assists the diagnosis of cryopyrin-associated periodic syndrome (CAPS) patients: A Brazilian cooperation. 62
36244670 2022
49
Vagal control moderates the association between endothelial function and PTSD symptoms in women with T2DM. 62
36247837 2022
50
The feasibility of eye movement desensitization and reprocessing (EMDR) for older adults with posttraumatic stress disorder (PTSD) and comorbid psychiatric and somatic disorders. 62
36455886 2022

Variations for Cryopyrin-Associated Periodic Syndrome

ClinVar genetic disease variations for Cryopyrin-Associated Periodic Syndrome:

5 (show top 50) (show all 424)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NLRP3 NM_001243133.2(NLRP3):c.977G>A (p.Gly326Glu) SNV Pathogenic
97992 rs180177456 GRCh37: 1:247587728-247587728
GRCh38: 1:247424426-247424426
2 NLRP3 NM_001243133.2(NLRP3):c.1307C>T (p.Thr436Ile) SNV Pathogenic
97924 rs180177433 GRCh37: 1:247588058-247588058
GRCh38: 1:247424756-247424756
3 NLRP3 NM_001243133.2(NLRP3):c.1315G>A (p.Ala439Thr) SNV Pathogenic
97925 rs180177430 GRCh37: 1:247588066-247588066
GRCh38: 1:247424764-247424764
4 NLRP3 NM_001243133.2(NLRP3):c.1568T>G (p.Phe523Cys) SNV Pathogenic
97936 rs180177478 GRCh37: 1:247588319-247588319
GRCh38: 1:247425017-247425017
5 NLRP3 NM_001243133.2(NLRP3):c.1213A>C (p.Thr405Pro) SNV Pathogenic
97916 rs180177445 GRCh37: 1:247587964-247587964
GRCh38: 1:247424662-247424662
6 NLRP3 NM_001243133.2(NLRP3):c.910G>A (p.Glu304Lys) SNV Pathogenic
97981 rs180177484 GRCh37: 1:247587661-247587661
GRCh38: 1:247424359-247424359
7 NLRP3 NM_001243133.2(NLRP3):c.905T>G (p.Phe302Cys) SNV Pathogenic
837881 rs1662701151 GRCh37: 1:247587656-247587656
GRCh38: 1:247424354-247424354
8 NLRP3 NM_001243133.2(NLRP3):c.1699G>A (p.Glu567Lys) SNV Pathogenic
97944 rs104895389 GRCh37: 1:247588450-247588450
GRCh38: 1:247425148-247425148
9 NLRP3 NM_001243133.2(NLRP3):c.914T>C (p.Leu305Pro) SNV Pathogenic
97982 rs180177431 GRCh37: 1:247587665-247587665
GRCh38: 1:247424363-247424363
10 NLRP3 NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met) SNV Pathogenic
97909 rs151344629 GRCh37: 1:247587794-247587794
GRCh38: 1:247424492-247424492
11 NLRP3 NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) SNV Pathogenic
4370 rs121908146 GRCh37: 1:247588067-247588067
GRCh38: 1:247424765-247424765
12 NLRP3 NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro) SNV Pathogenic
4379 rs28937896 GRCh37: 1:247587809-247587809
GRCh38: 1:247424507-247424507
13 NLRP3 NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn) SNV Pathogenic
4377 rs121908153 GRCh37: 1:247587658-247587658
GRCh38: 1:247424356-247424356
14 NLRP3 NM_001243133.2(NLRP3):c.778C>T (p.Arg260Ter) SNV Pathogenic
4374 rs121908150 GRCh37: 1:247587529-247587529
GRCh38: 1:247424227-247424227
15 NLRP3 NM_001243133.2(NLRP3):c.902G>A (p.Gly301Asp) SNV Pathogenic
97978 rs180177441 GRCh37: 1:247587653-247587653
GRCh38: 1:247424351-247424351
16 NLRP3 NM_001243133.2(NLRP3):c.1055C>T (p.Ala352Val) SNV Likely Pathogenic
4373 rs121908149 GRCh37: 1:247587806-247587806
GRCh38: 1:247424504-247424504
17 NLRP3 NM_001243133.2(NLRP3):c.1218G>A (p.Met406Ile) SNV Likely Pathogenic
1066319 GRCh37: 1:247587969-247587969
GRCh38: 1:247424667-247424667
18 NLRP3 NM_001243133.2(NLRP3):c.1054G>A (p.Ala352Thr) SNV Likely Pathogenic
97912 rs180177503 GRCh37: 1:247587805-247587805
GRCh38: 1:247424503-247424503
19 NLRP3 NM_001243133.2(NLRP3):c.515T>C (p.Ile172Thr) SNV Likely Pathogenic
97964 rs180177449 GRCh37: 1:247587266-247587266
GRCh38: 1:247423964-247423964
20 NLRP3 NM_001243133.2(NLRP3):c.920G>T (p.Gly307Val) SNV Likely Pathogenic
97985 rs180177468 GRCh37: 1:247587671-247587671
GRCh38: 1:247424369-247424369
21 NLRP3 NM_001243133.2(NLRP3):c.1573G>A (p.Glu525Lys) SNV Likely Pathogenic
97939 rs180177458 GRCh37: 1:247588324-247588324
GRCh38: 1:247425022-247425022
22 NLRP3 NM_001243133.2(NLRP3):c.1000A>G (p.Ile334Val) SNV Likely Pathogenic
934291 rs1662713003 GRCh37: 1:247587751-247587751
GRCh38: 1:247424449-247424449
23 NLRP3 NM_001243133.2(NLRP3):c.3013G>T (p.Glu1005Ter) SNV Uncertain Significance
942806 rs1222702587 GRCh37: 1:247611714-247611714
GRCh38: 1:247448412-247448412
24 NLRP3 NM_001243133.2(NLRP3):c.1390C>A (p.Leu464Ile) SNV Uncertain Significance
955808 rs755565331 GRCh37: 1:247588141-247588141
GRCh38: 1:247424839-247424839
25 NLRP3 NM_001243133.2(NLRP3):c.386A>G (p.Lys129Arg) SNV Uncertain Significance
234287 rs188623199 GRCh37: 1:247586640-247586640
GRCh38: 1:247423338-247423338
26 NLRP3 NM_001243133.2(NLRP3):c.2738C>T (p.Thr913Met) SNV Uncertain Significance
234305 rs765925466 GRCh37: 1:247607348-247607348
GRCh38: 1:247444046-247444046
27 NLRP3 NM_001243133.2(NLRP3):c.2827G>C (p.Val943Leu) SNV Uncertain Significance
1359124 GRCh37: 1:247607437-247607437
GRCh38: 1:247444135-247444135
28 NLRP3 NM_001243133.2(NLRP3):c.179A>G (p.Asn60Ser) SNV Uncertain Significance
1373529 GRCh37: 1:247582281-247582281
GRCh38: 1:247418979-247418979
29 NLRP3 NM_001243133.2(NLRP3):c.358G>T (p.Glu120Ter) SNV Uncertain Significance
1356737 GRCh37: 1:247586612-247586612
GRCh38: 1:247423310-247423310
30 NLRP3 NM_001243133.2(NLRP3):c.2578G>A (p.Val860Met) SNV Uncertain Significance
1391330 GRCh37: 1:247599357-247599357
GRCh38: 1:247436055-247436055
31 NLRP3 NM_001243133.2(NLRP3):c.1504A>G (p.Arg502Gly) SNV Uncertain Significance
1362590 GRCh37: 1:247588255-247588255
GRCh38: 1:247424953-247424953
32 NLRP3 NM_001243133.2(NLRP3):c.2841C>A (p.Asp947Glu) SNV Uncertain Significance
1401787 GRCh37: 1:247607959-247607959
GRCh38: 1:247444657-247444657
33 NLRP3 NC_000001.10:g.(?_247582097)_(247611806_?)dup DUP Uncertain Significance
1411293 GRCh37: 1:247582097-247611806
GRCh38:
34 NLRP3 NM_001243133.2(NLRP3):c.728C>T (p.Ser243Leu) SNV Uncertain Significance
1396435 GRCh37: 1:247587479-247587479
GRCh38: 1:247424177-247424177
35 overlap with 13 genes NC_000001.10:g.(?_247599252)_(248059833_?)dup DUP Uncertain Significance
1411294 GRCh37: 1:247599252-248059833
GRCh38:
36 NLRP3 NM_001243133.2(NLRP3):c.1376G>C (p.Gly459Ala) SNV Uncertain Significance
1425891 GRCh37: 1:247588127-247588127
GRCh38: 1:247424825-247424825
37 NLRP3 NM_001243133.2(NLRP3):c.1324G>A (p.Val442Ile) SNV Uncertain Significance
1406427 GRCh37: 1:247588075-247588075
GRCh38: 1:247424773-247424773
38 NLRP3 NM_001243133.2(NLRP3):c.1365C>A (p.Ser455Arg) SNV Uncertain Significance
1420378 GRCh37: 1:247588116-247588116
GRCh38: 1:247424814-247424814
39 NLRP3 NM_001243133.2(NLRP3):c.1677_1679del (p.Leu560del) DEL Uncertain Significance
1462677 GRCh37: 1:247588426-247588428
GRCh38: 1:247425124-247425126
40 NLRP3 NM_001243133.2(NLRP3):c.2150+6_2150+7delinsTT INDEL Uncertain Significance
1475313 GRCh37: 1:247588907-247588908
GRCh38: 1:247425605-247425606
41 NLRP3 NM_001243133.2(NLRP3):c.2725A>G (p.Asn909Asp) SNV Uncertain Significance
1490655 GRCh37: 1:247607335-247607335
GRCh38: 1:247444033-247444033
42 NLRP3 NM_001243133.2(NLRP3):c.3080C>T (p.Thr1027Ile) SNV Uncertain Significance
1489473 GRCh37: 1:247611781-247611781
GRCh38: 1:247448479-247448479
43 NLRP3 NM_001243133.2(NLRP3):c.2167C>A (p.Leu723Ile) SNV Uncertain Significance
1443727 GRCh37: 1:247592903-247592903
GRCh38: 1:247429601-247429601
44 NLRP3 NM_001243133.2(NLRP3):c.1899C>G (p.Tyr633Ter) SNV Uncertain Significance
1485179 GRCh37: 1:247588650-247588650
GRCh38: 1:247425348-247425348
45 NLRP3 NM_001243133.2(NLRP3):c.1374C>A (p.His458Gln) SNV Uncertain Significance
1448252 GRCh37: 1:247588125-247588125
GRCh38: 1:247424823-247424823
46 NLRP3 NM_001243133.2(NLRP3):c.530G>A (p.Ser177Asn) SNV Uncertain Significance
1509736 GRCh37: 1:247587281-247587281
GRCh38: 1:247423979-247423979
47 NLRP3 NM_001243133.2(NLRP3):c.1011G>C (p.Lys337Asn) SNV Uncertain Significance
1516187 GRCh37: 1:247587762-247587762
GRCh38: 1:247424460-247424460
48 NLRP3 NM_001243133.2(NLRP3):c.1741C>G (p.Leu581Val) SNV Uncertain Significance
1519288 GRCh37: 1:247588492-247588492
GRCh38: 1:247425190-247425190
49 NLRP3 NM_001243133.2(NLRP3):c.2048A>G (p.His683Arg) SNV Uncertain Significance
1514648 GRCh37: 1:247588799-247588799
GRCh38: 1:247425497-247425497
50 NLRP3 NM_001243133.2(NLRP3):c.2772C>G (p.Asp924Glu) SNV Uncertain Significance
1348758 GRCh37: 1:247607382-247607382
GRCh38: 1:247444080-247444080

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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.45 NLRP3 IL1R1
2 10 NLRP3 IL1R1

GO Terms for Cryopyrin-Associated Periodic Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.26 NLRP3 IL1R1
2 regulation of inflammatory response GO:0050727 8.92 NLRP3 IL1R1

Sources for Cryopyrin-Associated Periodic Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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