Cryopyrin-Associated Periodic Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Immune diseases Bone diseases Skin diseases Blood diseases Eye diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Amyloidosis

Non-neuropathic heredofamilial amyloidosis

ICD11: ³³

Diseases of the immune system

Autoinflammatory disorders

Monogenic autoinflammatory syndromes

Cryopyrin-associated periodic syndromes

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

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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...

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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:

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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

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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

Plasminogen

Approved

Phase 4

9001-91-6

Ambrisentan

Approved, Investigational

Phase 4

177036-94-1

6918493

Spironolactone

Approved

Phase 4

1952-01-7, 52-01-7

5833

Fibrinolytic Agents

Phase 4

Tissue Plasminogen Activator

Phase 4

Hormones

Phase 4

Liver Extracts

Phase 4

Antihypertensive Agents

Phase 4

Hormone Antagonists

Phase 4

Diuretics, Potassium Sparing

Phase 4

diuretics

Phase 4

Natriuretic Peptide, Brain

Phase 4

Mineralocorticoids

Phase 4

Mineralocorticoid Receptor Antagonists

Phase 4

Ginseng

Investigational, Nutraceutical

Phase 4

50647-08-0

Rilonacept

Approved, Investigational

Phase 3

501081-76-1

Calcium polycarbophil

Approved

Phase 2, Phase 3

126040-58-2

Cinnamon

Approved

Phase 2, Phase 3

Propofol

Approved, Investigational, Vet_approved

Phase 3

2078-54-8

4943

Analgesics

Phase 3

Anti-Inflammatory Agents

Phase 3

Antibodies, Monoclonal

Phase 3

Psyllium

Phase 2, Phase 3

Juzentaihoto

Phase 2, Phase 3

Mitogens

Phase 2, Phase 3

Analgesics, Opioid

Phase 3

Narcotics

Phase 3

Immunoglobulins

Phase 3

Antibodies

Phase 3

Docetaxel

Approved, Investigational

Phase 2

114977-28-5

148124

Flecainide

Approved, Withdrawn

Phase 2

54143-55-4

3356

Imipramine

Approved

Phase 2

50-49-7

3696

Moricizine

Approved, Investigational, Withdrawn

Phase 2

31883-05-3

34633

Encainide

Approved, Investigational, Withdrawn

Phase 2

66778-36-7

48041

Tacrolimus

Approved, Investigational

Phase 2

104987-11-3

6473866 445643

Histamine

Approved, Investigational

Phase 2

51-45-6

774

Tranilast

Investigational

Phase 2

53902-12-8

5282230

Adrenergic Agents

Phase 2

Anti-Arrhythmia Agents

Phase 2

Sodium Channel Blockers

Phase 2

Psychotropic Drugs

Phase 2

Antidepressive Agents, Tricyclic

Phase 2

Antidepressive Agents

Phase 2

Calcineurin Inhibitors

Phase 2

Immunosuppressive Agents

Phase 2

Immunologic Factors

Phase 2

Neurotransmitter Agents

Phase 2

Anti-Allergic Agents

Phase 2

Calcium, Dietary

Phase 2

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

Sources

Genetic Tests for Cryopyrin-Associated Periodic Syndrome

Sources

Anatomical Context for Cryopyrin-Associated Periodic Syndrome

Organs/tissues related to Cryopyrin-Associated Periodic Syndrome:

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

Sources

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	Kim BJ...Choi BY	33020839	2021
2	Novel evidences of atypical manifestations in cryopyrin-associated periodic syndromes. ⁶² ⁵	Bujan-Rivas S...Arostegui JI	28079503	2017
3	Clinical and Molecular Phenotypes of Low-Penetrance Variants of NLRP3: Diagnostic and Therapeutic Challenges. ⁶² ⁵	Kuemmerle-Deschner JB...Benseler SM	28692792	2017
4	A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry. ⁶² ⁵	Papa R...Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever Project	29047407	2017
5	Neurology of the cryopyrin-associated periodic fever syndrome. ⁶² ⁵	Parker T...Ginsberg L	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	Sobolewska B...Zierhut M	27134254	2016
7	Musculoskeletal symptoms in patients with cryopyrin-associated periodic syndromes: a large database study. ⁶² ⁵	Houx L...Devauchelle-Pensec V	26245507	2015
8	A functional inflammasome activation assay differentiates patients with pathogenic NLRP3 mutations and symptomatic patients with low penetrance variants. ⁶² ⁵	Rieber N...Kuemmerle-Deschner J	25596455	2015
9	Cell stress increases ATP release in NLRP3 inflammasome-mediated autoinflammatory diseases, resulting in cytokine imbalance. ⁶² ⁵	Carta S...Rubartelli A	25730877	2015
10	Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes. ⁶² ⁵	Nakagawa K...Arostegui JI	24326009	2015
11	Impaired cytokine responses in patients with cryopyrin-associated periodic syndrome (CAPS). ⁶² ⁵	Haverkamp MH...Holland SM	24773462	2014
12	NLRP3 activation induces ASC-dependent programmed necrotic cell death, which leads to neutrophilic inflammation. ⁶² ⁵	Satoh T...Matsue H	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	Caorsi R...Gattorno M	23442610	2013
14	Hereditary autoinflammatory syndromes: a Brazilian multicenter study. ⁶² ⁵	Jesus AA...Oliveira JB	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	Cuisset L...French CAPS study group	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	Kuemmerle-Deschner JB...Rordorf C	21356079	2011
17	Analysis of cryopyrin-associated periodic syndromes (CAPS) in German children: epidemiological, clinical and genetic characteristics. ⁶² ⁵	Lainka E...Niehues T	21058222	2010
18	Follow-up and quality of life of patients with cryopyrin-associated periodic syndromes treated with Anakinra. ⁶² ⁵	Lepore L...Gattorno M	20472245	2010
19	Inflammasome-mediated disease animal models reveal roles for innate but not adaptive immunity. ⁶² ⁵	Brydges SD...Hoffman HM	19501000	2009
20	A cryopyrin-associated periodic syndrome with joint destruction. ⁶² ⁵	Lequerre T...Le Loet X	17178739	2007
21	The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. ⁶² ⁵	Aksentijevich I...Kastner DL	17393462	2007
22	Early detection of sensorineural hearing loss in Muckle-Wells-syndrome. ⁵	Kuemmerle-Deschner JB...Benseler SM	26531310	2015
23	Muckle-Wells syndrome and male hypofertility: a case series. ⁵	Tran TA...Meinzer U	22512814	2012
24	Guidelines for the genetic diagnosis of hereditary recurrent fevers. ⁵	Shinar Y...European Molecular Genetics Quality Network	22661645	2012
25	The T348M mutated form of cryopyrin is associated with defective lipopolysaccharide-induced interleukin 10 production in CINCA syndrome. ⁵	Bihl T...Simon HU	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	Stack JH...Hoffman HM	16081838	2005
27	Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome. ⁵	Hentgen V...Grateau G	15801036	2005
28	Cryopyrin-induced interleukin 1beta secretion in monocytic cells: enhanced activity of disease-associated mutants and requirement for ASC. ⁵	Dowds TA...Nunez G	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	Neven B...de Saint Basile G	14630794	2004
30	Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P. ⁵	Hoffman HM...Kolodner RD	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	Dode C...Grateau G	11992256	2002
32	Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. ⁵	Hoffman HM...Kolodner RD	11687797	2001
33	Building the Toolbox of Devices to Optimize a Practice in Submucosal Endoscopy. ⁶²	Shah RH...Amin S	36375879	2023
34	Injectable bone cements: What benefits the combination of calcium phosphates and bioactive glasses could bring? ⁶²	Demir-Oguz O...Loca D	35510175	2023
35	Retinoic acid control of pax8 during renal specification of Xenopus pronephros involves hox and meis3. ⁶²	Durant-Vesga J...Riou JF	36279927	2023
36	Decoupling the role of chemistry and microstructure in hMSCs response to an osteoinductive calcium phosphate ceramic. ⁶²	Galvan-Chacon VP...Habibovic P	35475029	2023
37	The effect of ethanol on fibrillar hydrogels formed by glycyrrhizic acid monoammonium salt. ⁶²	Denk P...Kunz W	36356444	2023
38	Health impact assessments of shipping and port-sourced air pollution on a global scale: A scoping literature review. ⁶²	Mueller N...Nieuwenhuijsen M	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	Tretarre B...Iborra F	36344379	2022
40	Dataset on modelling a synthetic oil rim reservoirs for optimizing oil production during gas cap blow down strategy. ⁶²	Olabode O...Uzodinma O	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	Bini K...Uthup TK	35296963	2022
42	Inbreeding effects on telomeres in hatchling sand lizards (Lacerta agilis): An optimal family affair? ⁶²	Olsson M...Wapstra E	36208022	2022
43	Microplastics in Malaysian bottled water brands: Occurrence and potential human exposure. ⁶²	Praveena SM...Nafisyah AL	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	Gemicioglu B...Uydes Dogan BS	36332164	2022
45	Two Cases of Severe Amanita Muscaria Poisoning Including a Fatality. ⁶²	Meisel EM...Sahin A	36210279	2022
46	Carotid plaque components and other carotid artery features associated with risk of stroke: A systematic review and meta-analysis. ⁶²	Zhang Y...Xu F	36334373	2022
47	Neurodegenerative diseases-Caps: a capsule network based early screening system for the classification of neurodegenerative diseases. ⁶²	Bhatele KR...Tiwari D	36397832	2022
48	In-vitro NLRP3 functional test assists the diagnosis of cryopyrin-associated periodic syndrome (CAPS) patients: A Brazilian cooperation. ⁶²	Mendonca LO...Pontillo A	36244670	2022
49	Vagal control moderates the association between endothelial function and PTSD symptoms in women with T2DM. ⁶²	Seligowski AV...Gillespie CF	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	Gielkens EMJ...van Alphen SPJ	36455886	2022

Sources

Genes for Cryopyrin-Associated Periodic Syndrome

Genes related to Cryopyrin-Associated Periodic Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NLRP3	NLR Family Pyrin Domain Containing 3	Protein Coding	433.74	Pathogenic ⁵ Likely pathogenic ⁵ GeneCards inferred via : Publications (show sections)	11687797 11992256 12522564 (more) 14630794 15020601 15801036 16081838 16100350 17178739 17393462 19501000 20472245 21058222 21109514 21356079 22512814 22566169 22661645 23442610 23703389 24773462 25596455 25730877 26245507 26531310 26931528 27134254 28079503 28692792 33020839 24326009 29047407
2	IL1R1	Interleukin 1 Receptor Type 1	Protein Coding	7.5	GeneCards inferred via : Publications (show sections)

Sources

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

Sources

Expression for Cryopyrin-Associated Periodic Syndrome

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

Sources

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	Toll-Like receptor Signaling Pathways ⁶⁵ Show member pathways Inflammasome Activation Pathways ⁶⁵ Nanomaterial-induced inflammasome activation ⁷⁴ NOD-like Receptor Signaling Pathways ⁶⁵ TLR4 signaling and tolerance ⁷⁴ Toll-Like Receptors Pathway ⁶⁴	11.45	NLRP3 IL1R1
2	IL1 and megakaryocytes in obesity ⁷⁴	10	NLRP3 IL1R1