MWS
MCID: MCK007
MIFTS: 65

Muckle-Wells Syndrome (MWS)

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

Aliases & Classifications for Muckle-Wells Syndrome

MalaCards integrated aliases for Muckle-Wells Syndrome:

Name: Muckle-Wells Syndrome 56 12 74 52 25 58 73 13 54 15 39 71
Urticaria-Deafness-Amyloidosis Syndrome 56 52 25 73
Uda Syndrome 56 52 25 73
Mws 56 12 25 73
Familial Amyloid Nephropathy with Urticaria and Deafness 25 29 6
Neutrophilic Urticaria 12 58 71
Cryopyrin-Associated Periodic Syndrome 2; Caps2 56
Cryopyrin-Associated Periodic Syndrome 2 56
Cryopyrin-Associated Periodic Syndromes 43
Urticaria, Deafness and Amyloidosis 52
Urticaria-Deafness-Amyloidosis 74
Muckle Wells Syndrome 52
Caps2 56

Characteristics:

Orphanet epidemiological data:

58
muckle-wells syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy,Neonatal; Age of death: adult,elderly;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or early childhood
episodes last 1 to 2 days
see also familial cold autoinflammatory syndrome , an allelic disorder with overlapping features


HPO:

31
muckle-wells syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

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


Summaries for Muckle-Wells Syndrome

Genetics Home Reference : 25 Muckle-Wells syndrome is a disorder characterized by periodic episodes of skin rash, fever, and joint pain. Progressive hearing loss and kidney damage also occur in this disorder. People with Muckle-Wells syndrome have recurrent "flare-ups" that begin during infancy or early childhood. These episodes may appear to arise spontaneously or be triggered by cold, heat, fatigue, or other stresses. Affected individuals typically develop a non-itchy rash, mild to moderate fever, painful and swollen joints, and in some cases redness in the whites of the eyes (conjunctivitis). Hearing loss caused by progressive nerve damage (sensorineural deafness) typically becomes apparent during the teenage years. Abnormal deposits of a protein called amyloid (amyloidosis) cause progressive kidney damage in about one-third of people with Muckle-Wells syndrome; these deposits may also damage other organs. In addition, pigmented skin lesions may occur in affected individuals.

MalaCards based summary : Muckle-Wells Syndrome, also known as urticaria-deafness-amyloidosis syndrome, is related to familial cold autoinflammatory syndrome 1 and cryopyrin-associated periodic syndrome, and has symptoms including lower extremity pain An important gene associated with Muckle-Wells Syndrome is NLRP3 (NLR Family Pyrin Domain Containing 3), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Ginseng and Rilonacept have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and eye, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has material basis in heterozygous mutation in NLRP3 on chromosome 1q44.

NIH Rare Diseases : 52 Muckle-Wells syndrome is an autoinflammatory disease , and the intermediate form of cryopyrin-associated periodic syndrome (CAPS). Signs and symptoms may include recurrent episodes of fever, skin rash, joint pain, abdominal pain, and pinkeye ; progressive sensorineural deafness ; and amyloidosis . It is caused by mutations in the NLRP3 gene and is inherited in an autosomal dominant manner. Treatment includes medications such as canakinumab and rilonacept.

OMIM : 56 Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis (Dode et al., 2002). See also familial cold-induced autoinflammatory syndrome-1 (FCAS1, CAPS1; 120100), an allelic disorder with overlapping clinical features. (191900)

UniProtKB/Swiss-Prot : 73 Muckle-Wells syndrome: A hereditary periodic fever syndrome characterized by fever, chronic recurrent urticaria, arthralgias, progressive sensorineural deafness, and reactive renal amyloidosis. The disease may be severe if generalized reactive amyloidosis occurs.

Wikipedia : 74 Muckle-Wells syndrome (MWS), is a rare autosomal dominant disease which causes sensorineural deafness... more...

Related Diseases for Muckle-Wells Syndrome

Diseases related to Muckle-Wells Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 465)
# Related Disease Score Top Affiliating Genes
1 familial cold autoinflammatory syndrome 1 33.4 NLRP3 MEFV IL1R1 CASP1
2 cryopyrin-associated periodic syndrome 33.4 NLRP3 IL1RN IL1R1 CRP
3 amyloidosis 31.8 TNFRSF1A NLRP3 MEFV IL1RN IL1B CRP
4 wells syndrome 31.7 TNFRSF1A PYCARD NLRP3 MEFV IL1RAPL2 IL1R1
5 autoinflammatory syndrome 31.7 NLRP3 NLRP12 NLRC4
6 cold urticaria 31.6 NLRP3 IL1RAPL2 IL1R1
7 amyloidosis aa 31.6 MEFV CRP
8 conjunctivitis 31.6 TNFRSF1A NLRP3 NLRP12 NLRC4 CXCL8
9 juvenile arthritis 31.5 IL1RAPL2 IL1R1 CXCL8 CRP
10 hereditary periodic fever syndrome 31.5 TNFRSF1A NLRP3 MEFV
11 systemic onset juvenile idiopathic arthritis 31.3 IL1RN IL1RAPL2 IL1B IL18
12 uveitis 31.2 TNFRSF1A IL1R1 IL1B CXCL8
13 arthropathy 31.2 NLRP3 IL1RN IL1RAPL2 IL1B CRP
14 papilledema 31.1 NLRP3 IL1RN IL1R1 CRP
15 leprosy 3 31.1 IL1B CXCL8 CCR6
16 juvenile rheumatoid arthritis 31.0 TNFRSF1A IL1RN IL1R1 IL1B IL18 CXCL8
17 enthesopathy 30.9 MEFV CRP CCR6
18 brucellosis 30.9 MEFV IL1RN IL18 CXCL8 CRP
19 macrophage activation syndrome 30.9 TNFRSF1A NLRC4 IL18
20 exanthem 30.9 NLRP3 MVK MEFV IL1RN IL1B H2AC18
21 visceral leishmaniasis 30.9 IL1B IL18 CXCL8 CRP
22 aseptic meningitis 30.9 NLRP3 IL1RN IL1R1 IL1B CXCL8 CRP
23 relapsing fever 30.9 TNFRSF1A MVK MEFV CRP
24 osteoarthritis 30.8 IL1RN IL1R1 IL1B CXCL8 CRP
25 otitis media 30.8 IL1RN IL1B CXCL8 CRP
26 chronic meningitis 30.8 NLRP3 MEFV IL1RN IL1B CRP
27 mumps 30.8 TNFRSF1A IL1B CXCL8
28 retinal vascular disease 30.8 IL1B H2AC18 CXCL8 CRP
29 scleritis 30.7 IL1RN IL1RAPL2 CRP CCR6
30 leishmaniasis 30.7 TNFRSF1A IL1B IL18 CXCL8 CRP
31 keratitis, hereditary 30.7 NLRP3 IL1B CCR6
32 rosacea 30.7 IL18 CXCL8 CRP CCR6
33 gout 30.6 PYCARD NLRP3 MEFV IL1R1 IL1B IL18
34 pericarditis 30.6 TNFRSF1A MEFV IL1RN IL1B CXCL8 CRP
35 gastritis 30.6 IL1RN IL1B CXCL8 CCR6
36 eye disease 30.5 IL1RN IL1R1 IL1B H2AC18 CXCL8 CRP
37 synovitis 30.5 TNFRSF1A IL1RN IL1B IL18 CXCL8 CRP
38 gastroenteritis 30.5 IL1RN IL1B CXCL8 CRP
39 sarcoidosis 1 30.5 IL1RN IL1B IL18 CRP CCR6
40 hyper-igd syndrome 30.5 TNFRSF1A MVK IL1RN CRP
41 optic papillitis 30.4 NLRP3 CRP
42 pharyngitis 30.4 NLRP3 MVK MEFV IL1RN IL1B CXCL8
43 demyelinating disease 30.3 TNFRSF1A IL1B H2AC18 CCR6
44 peritonitis 30.3 NLRP3 MEFV IL1B IL18 CXCL8 CRP
45 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 30.3 NLRP3 NLRP12 MVK MEFV IL1RN IL1B
46 dermatitis 30.2 IL1B IL18 CXCL8 CCR6
47 pyoderma gangrenosum 30.2 NLRP3 MVK MEFV IL1RN IL1R1 CXCL8
48 sleep apnea 30.2 IL1B CXCL8 CRP
49 proteasome-associated autoinflammatory syndrome 1 30.1 NLRP3 MVK MEFV IL1RN IL1RAPL2 IL1R1
50 multiple sclerosis 30.1 TNFRSF1A IL1RN IL1R1 IL1B IL18 CXCL8

Graphical network of the top 20 diseases related to Muckle-Wells Syndrome:



Diseases related to Muckle-Wells Syndrome

Symptoms & Phenotypes for Muckle-Wells Syndrome

Human phenotypes related to Muckle-Wells Syndrome:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
2 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
3 arthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001369
4 cranial nerve paralysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0006824
5 skin rash 58 31 hallmark (90%) Very frequent (99-80%) HP:0000988
6 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
7 uveitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000554
8 conjunctivitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000509
9 broad foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001769
10 episcleritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100534
11 progressive sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000408
12 nephropathy 58 31 frequent (33%) Frequent (79-30%) HP:0000112
13 urticaria 58 31 frequent (33%) Frequent (79-30%) HP:0001025
14 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
15 nephrotic syndrome 58 31 frequent (33%) Frequent (79-30%) HP:0000100
16 elevated erythrocyte sedimentation rate 58 31 frequent (33%) Frequent (79-30%) HP:0003565
17 renal amyloidosis 58 31 frequent (33%) Frequent (79-30%) HP:0001917
18 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
19 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
20 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
21 ichthyosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008064
22 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
23 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
24 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
25 restrictive ventilatory defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0002091
26 myalgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003326
27 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
28 abnormality of the voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001608
29 abnormality of the genital system 58 31 occasional (7.5%) Occasional (29-5%) HP:0000078
30 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
31 vasculitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002633
32 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
33 abnormality of the nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000366
34 abnormal palate morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000174
35 recurrent aphthous stomatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0011107
36 hernia of the abdominal wall 58 31 occasional (7.5%) Occasional (29-5%) HP:0004299
37 hearing impairment 31 HP:0000365
38 renal insufficiency 31 HP:0000083
39 abnormality of metabolism/homeostasis 58 Frequent (79-30%)
40 abnormality of the mouth 31 HP:0000153
41 abnormality of the skin 31 HP:0000951
42 leukocytosis 31 HP:0001974
43 recurrent fever 31 HP:0001954

Symptoms via clinical synopsis from OMIM:

56
Skeletal Limbs:
lower extremity pain

Skeletal:
arthralgia, episodic

Muscle Soft Tissue:
myalgia, episodic

Immunology:
polymorphonuclear leukocytosis, episodic
increased il6, episodic

Head And Neck Ears:
sensorineural deafness, progressive, late-onset

Head And Neck Mouth:
aphthous ulcers

Genitourinary Kidneys:
renal failure
renal amyloidosis, late-onset

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

Metabolic Features:
fever, episodic

Laboratory Abnormalities:
polymorphonuclear leukocytosis, episodic
increased il6, episodic
increased erythrocyte sedimentation rate, episodic

Head And Neck Eyes:
conjunctivitis, episodic

Clinical features from OMIM:

191900

UMLS symptoms related to Muckle-Wells Syndrome:


lower extremity pain

GenomeRNAi Phenotypes related to Muckle-Wells Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 9.61 CASP1
2 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 9.61 CASP1 IL18 IL1B NLRC4 NLRP1 NLRP3
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.5 CXCL8 IL18 IL1B NLRP1 NLRP3 PYCARD
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.5 CASP1 CXCL8 IL18 IL1B NLRP1 NLRP3

MGI Mouse Phenotypes related to Muckle-Wells Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.97 CASP1 CCR6 IL18 IL1B IL1R1 IL1RN
2 homeostasis/metabolism MP:0005376 9.8 CASP1 CCR6 CDIPT CRP IL18 IL1B
3 immune system MP:0005387 9.47 CASP1 CCR6 CRP IL18 IL1B IL1R1

Drugs & Therapeutics for Muckle-Wells Syndrome

Drugs for Muckle-Wells Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ginseng Approved, Investigational, Nutraceutical Phase 4 50647-08-0
2
Rilonacept Approved, Investigational Phase 3 501081-76-1 104924
3 Cinnamon Approved Phase 2, Phase 3
4
Calcium polycarbophil Approved Phase 2, Phase 3 126040-58-2
5 Vaccines Phase 3
6 Antibodies, Monoclonal Phase 3
7 Mitogens Phase 2, Phase 3
8 Juzentaihoto Phase 2, Phase 3
9 Psyllium Phase 2, Phase 3
10 Immunoglobulins Phase 3
11 Antibodies Phase 3
12
Histamine Approved, Investigational Phase 2 51-45-6 774
13
Tranilast Investigational Phase 2 53902-12-8 93543
14 Anti-Inflammatory Agents Phase 2
15 Analgesics, Non-Narcotic Phase 2
16 Hormones Phase 2
17 Anti-Allergic Agents Phase 2
18 Analgesics Phase 2
19 Histamine H1 Antagonists Phase 2
20 Histamine Antagonists Phase 2
21 Platelet Aggregation Inhibitors Phase 2
22
Histamine Phosphate Phase 2 51-74-1 65513
23 Neurotransmitter Agents Phase 2
24 Calcium, Dietary Phase 2
25 Anti-Inflammatory Agents, Non-Steroidal Phase 2
26 calcium channel blockers Phase 2
27 Interleukin 1 Receptor Antagonist Protein Phase 2
28 Antirheumatic Agents Phase 1, Phase 2
29
Calcium Nutraceutical Phase 2 7440-70-2 271

Interventional clinical trials:

(show all 37)
# 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 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
4 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
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 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
7 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
8 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)
9 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;rilonacept 160 mg
10 A French Open-label Extension Study of Canakinumab in Patients Who Participated in International Phase III Studies CACZ885G2301E1 or CACZ885G2306 in Systemic Juvenile Idiopathic Arthritis and CACZ885N2301 in Hereditary Periodic Fevers (TRAPS, HIDS, or crFMF) Completed NCT02334748 Phase 3 canakinumab
11 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
12 Efficacy and Safety of Sipjeondaebo-tang on Korean Patients With Cold Hypersensitivity in the Hands and Feet (SDT) Recruiting NCT03374345 Phase 2, Phase 3 Sipjeondaebo-tang Granule;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 Recruiting NCT03790033 Phase 2, Phase 3 Ucha-Shinki-Hwan;Placebo
14 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
15 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
16 An Open-Label, Phase II Dose Titration Study of ACZ885 (Human Anti-IL-1β Monoclonal Antibody) to Assess the Clinical Efficacy, Safety, Pharmacokinetics and Pharmacodynamics in Patients With NALP3 Mutations Completed NCT00487708 Phase 2 canakinumab
17 A Pilot Open-Label Study of Rilonacept (Arcalyst) in the Deficiency of the Interleukin-1 Receptor Antagonist (DIRA) Completed NCT01801449 Phase 2 Rilonacept
18 Continuation of a Pilot Open-Label Study of IL 1 Trap in Adult Subjects With Autoinflammatory Diseases: A Therapeutic Approach to Study Pathogenesis Completed NCT00094900 Phase 2 IL-1 Trap
19 A Pilot Study of Anakinra in Behcet's Disease (BD) Completed NCT01441076 Phase 1, Phase 2 Anakinra
20 Efficacy and Safety of Tranilast in Patients With Cryopyrin-Associated Periodic Syndrome (CAPS): A Single-Arm Prospective Cohort Study Recruiting NCT03923140 Phase 2 Tranilast
21 Early Phase Administration of Anakinra as a Rescue Treatment for Inhaled Allergen Challenge-Induced Airway Inflammation Enrolling by invitation NCT03513471 Phase 1, Phase 2 Dermatophagoides Farinae
22 Late Phase Administration Anakinra as a Rescue Treatment for Inhaled Allergen Challenge-Induced Airway Inflammation Enrolling by invitation NCT03513458 Phase 1, Phase 2 Dermatophagoides Farinae
23 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
24 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
25 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
26 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
27 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
28 The Use of Kineret (Anakinra) in the Treatment of Familial Cold Urticaria Completed NCT00214851 Phase 1 Kineret (anakinra)
29 Creation of a Tool to Assess Quality of Life in Patient With Auto-inflammatory Diseases Unknown status NCT03569644
30 An Open-label, Long-term, Prospective, Observational Study to Monitor the Safety and Effectiveness of Ilaris in CAPS Patients Completed NCT01213641
31 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Completed NCT00933296
32 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)
33 Genetics and Pathophysiology of Autoinflammatory Disorders. Recruiting NCT00001373
34 Clinical and Multi-omics Cross-phenotyping of Patients With Autoimmune and Auto-inflammatory Diseases Recruiting NCT02466217
35 Studies of Natural History, Pathogenesis, and Outcomes in Autoimmune and Inflammatory Diseases Including Juvenile Dermatomyositis Recruiting NCT00059748
36 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
37 Pathogenesis and Genetic Basis of Physical Induced Urticarial Syndromes Recruiting NCT00887939

Search NIH Clinical Center for Muckle-Wells Syndrome

Cochrane evidence based reviews: cryopyrin-associated periodic syndromes

Genetic Tests for Muckle-Wells Syndrome

Genetic tests related to Muckle-Wells Syndrome:

# Genetic test Affiliating Genes
1 Familial Amyloid Nephropathy with Urticaria and Deafness 29 NLRP3

Anatomical Context for Muckle-Wells Syndrome

MalaCards organs/tissues related to Muckle-Wells Syndrome:

40
Skin, Kidney, Eye, Neutrophil, Bone, Monocytes, Brain

Publications for Muckle-Wells Syndrome

Articles related to Muckle-Wells Syndrome:

(show top 50) (show all 262)
# Title Authors PMID Year
1
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. 61 6 56
11992256 2002
2
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. 56 6 61
11687797 2001
3
A mutation in the Nlrp3 gene causing inflammasome hyperactivation potentiates Th17 cell-dominant immune responses. 61 56
19501001 2009
4
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. 6 61
12032915 2002
5
Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44. 56 61
10486324 1999
6
Muckle-Wells syndrome: case report and review of cutaneous pathology. 56 61
9704852 1998
7
Circadian elevation of IL-6 levels in Muckle-Wells syndrome: a disorder of the neuro-immune axis? 61 56
9797932 1998
8
Urticaria, arthralgia, and nephropathy without amyloidosis: another variant of the Muckle-Wells syndrome? 56 61
8737977 1996
9
Autosomal dominant Muckle-Wells syndrome associated with cystinuria, ichthyosis, and aphthosis in a four-generation family. 56 61
7802040 1994
10
Identification of amyloid A protein in a sporadic Muckle-Wells syndrome. N-terminal amino acid sequence after isolation from formalin-fixed tissue. 56 61
6406764 1983
11
[Intermittent rheumatism revealing a familial syndrome. Arthritis--urticarian eruptions--deafness: Muckle-Wells syndrome without kidney amylosis]. 56 61
1083554 1976
12
Amyloidosis, deafness, urticaria, and limb pains: a hereditary syndrome. 56
5769632 1969
13
Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome. 56
14476827 1962
14
The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity. 54 61
19180500 2009
15
[Exacerbation of skin lesions during fever in a patient with chronic infantile neurologic cutaneous articular (CINCA) syndrome]. 54 61
18558058 2008
16
Anakinra improves sensory deafness in a Japanese patient with Muckle-Wells syndrome, possibly by inhibiting the cryopyrin inflammasome. 54 61
18311804 2008
17
Cryopyrin-associated periodic syndromes and autoinflammation. 61 54
17927785 2008
18
Primer: inflammasomes and interleukin 1beta in inflammatory disorders. 54 61
18172447 2008
19
Pattern of interleukin-1beta secretion in response to lipopolysaccharide and ATP before and after interleukin-1 blockade in patients with CIAS1 mutations. 61 54
17763411 2007
20
A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra. 61 54
17486372 2007
21
The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing. 54 61
17431422 2007
22
[The molecular mechanism of autoinflammatory disease--lessons from the function of NOD protein families]. 54 61
17473508 2007
23
[Biological and clinical aspects of Muckle-Wells syndrome]. 61 54
17473514 2007
24
A case of Muckle-Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin). 54 61
18084703 2007
25
Response to IL-1-receptor antagonist in a child with familial cold autoinflammatory syndrome. 61 54
17300660 2007
26
[Muckle-Wells syndrome: a rare periodic fever syndrome]. 61 54
16901068 2006
27
[The "self-inflammatory syndrome"]. 61 54
16019157 2006
28
Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonism. 61 54
16531551 2006
29
Bacterial RNA and small antiviral compounds activate caspase-1 through cryopyrin/Nalp3. 54 61
16407888 2006
30
Neutrophil chemotaxis in a patient with neonatal-onset multisystem inflammatory disease and Muckle-Wells syndrome. 61 54
16279571 2005
31
IL-converting enzyme/caspase-1 inhibitor VX-765 blocks the hypersensitive response to an inflammatory stimulus in monocytes from familial cold autoinflammatory syndrome patients. 61 54
16081838 2005
32
Successful treatment of acute visual loss in Muckle-Wells syndrome with interleukin 1 receptor antagonist. 61 54
16014694 2005
33
Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome. 61 54
15801036 2005
34
Identification of bacterial muramyl dipeptide as activator of the NALP3/cryopyrin inflammasome. 61 54
15530394 2004
35
Structural, expression, and evolutionary analysis of mouse CIAS1. 54 61
15302403 2004
36
Muckle-Wells syndrome: clinical and histological skin findings compatible with cold air urticaria in a large kindred. 61 54
15270877 2004
37
Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis. 54 61
15071491 2004
38
Two German CINCA (NOMID) patients with different clinical severity and response to anti-inflammatory treatment. 54 61
12930324 2003
39
Interleukin-1-receptor antagonist in the Muckle-Wells syndrome. 61 54
12815153 2003
40
Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product. 54 61
12615073 2003
41
INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations. 54 61
12520003 2003
42
The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations. 54 61
12496512 2003
43
De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. 61 54
12483741 2002
44
PYPAF1, a PYRIN-containing Apaf1-like protein that assembles with ASC and regulates activation of NF-kappa B. 61 54
11786556 2002
45
Mutation in the SLC29A3 Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature. 61
32341814 2020
46
Muckle-Wells syndrome: manifestations and diagnosis in four generations of a Portuguese family. 61
32246440 2020
47
Off-Label studies on anakinra in dermatology: a review. 61
32279586 2020
48
Cryopyrin-associated periodic fever syndrome in children: A case-based review. 61
31858722 2020
49
Erratum: Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation. 61
31929316 2020
50
Ocular Involvement in Muckle-Wells Syndrome. 61
30556770 2020

Variations for Muckle-Wells Syndrome

ClinVar genetic disease variations for Muckle-Wells Syndrome:

6 (show top 50) (show all 104) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NLRP3 NM_001243133.1(NLRP3):c.1055C>T (p.Ala352Val)SNV Pathogenic 4373 rs121908149 1:247587806-247587806 1:247424504-247424504
2 NLRP3 NM_004895.4(NLRP3):c.784C>T (p.Arg262Trp)SNV Pathogenic 4374 rs121908150 1:247587529-247587529 1:247424227-247424227
3 NLRP3 NM_001243133.1(NLRP3):c.1705G>C (p.Gly569Arg)SNV Pathogenic 4375 rs121908151 1:247588456-247588456 1:247425154-247425154
4 NLRP3 NM_004895.4(NLRP3):c.913G>A (p.Asp305Asn)SNV Pathogenic 4377 rs121908153 1:247587658-247587658 1:247424356-247424356
5 NLRP3 NM_004895.4(NLRP3):c.1064T>C (p.Leu355Pro)SNV Pathogenic 4379 rs28937896 1:247587809-247587809 1:247424507-247424507
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.598G>A (p.Val200Met)SNV Conflicting interpretations of pathogenicity 4371 rs121908147 1:247587343-247587343 1:247424041-247424041
8 NLRP3 NM_004895.4(NLRP3):c.943A>G (p.Ile315Val)SNV Conflicting interpretations of pathogenicity 97989 rs180177501 1:247587688-247587688 1:247424386-247424386
9 NLRP3 NM_004895.4(NLRP3):c.950C>T (p.Pro317Leu)SNV Conflicting interpretations of pathogenicity 97990 rs180177462 1:247587695-247587695 1:247424393-247424393
10 NLRP3 NM_004895.4(NLRP3):c.2182A>G (p.Ser728Gly)SNV Conflicting interpretations of pathogenicity 234290 rs147946775 1:247592912-247592912 1:247429610-247429610
11 NLRP3 NM_004895.4(NLRP3):c.2431G>A (p.Gly811Ser)SNV Conflicting interpretations of pathogenicity 234291 rs141389711 1:247597508-247597508 1:247434206-247434206
12 NLRP3 NM_004895.4(NLRP3):c.2861C>T (p.Thr954Met)SNV Conflicting interpretations of pathogenicity 234293 rs139814109 1:247607973-247607973 1:247444671-247444671
13 NLRP3 NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys)SNV Conflicting interpretations of pathogenicity 259561 rs35829419 1:247588858-247588858 1:247425556-247425556
14 NLRP3 NM_004895.4(NLRP3):c.214G>A (p.Val72Met)SNV Conflicting interpretations of pathogenicity 245593 rs117287351 1:247582310-247582310 1:247419008-247419008
15 NLRP3 NM_004895.4(NLRP3):c.2511C>T (p.Cys837=)SNV Conflicting interpretations of pathogenicity 706519 1:247599284-247599284 1:247435982-247435982
16 NLRP3 NM_004895.4(NLRP3):c.1645A>T (p.Ser549Cys)SNV Conflicting interpretations of pathogenicity 536887 rs139833874 1:247588390-247588390 1:247425088-247425088
17 NLRP3 NM_004895.4(NLRP3):c.2191C>A (p.Arg731=)SNV Conflicting interpretations of pathogenicity 296949 rs148590318 1:247592921-247592921 1:247429619-247429619
18 NLRP3 NM_004895.4(NLRP3):c.200C>G (p.Ala67Gly)SNV Conflicting interpretations of pathogenicity 296939 rs763252989 1:247582296-247582296 1:247418994-247418994
19 NLRP3 NM_004895.4(NLRP3):c.2638A>G (p.Lys880Glu)SNV Uncertain significance 296953 rs1057515488 1:247599411-247599411 1:247436109-247436109
20 NLRP3 NM_004895.4(NLRP3):c.*324_*327deldeletion Uncertain significance 296957 rs886506882 1:247612127-247612130 1:247448825-247448828
21 NLRP3 NM_004895.4(NLRP3):c.-476dupduplication Uncertain significance 296930 rs144128307 1:247581609-247581610 1:247418307-247418308
22 NLRP3 NM_004895.4(NLRP3):c.-116T>CSNV Uncertain significance 296934 rs202234129 1:247581981-247581981 1:247418679-247418679
23 NLRP3 NM_004895.4(NLRP3):c.-679G>ASNV Uncertain significance 296924 rs768557674 1:247581418-247581418 1:247418116-247418116
24 NLRP3 NM_004895.4(NLRP3):c.749A>G (p.Gln250Arg)SNV Uncertain significance 234298 rs876660971 1:247587494-247587494 1:247424192-247424192
25 NLRP3 NM_004895.4(NLRP3):c.*328_*331deldeletion Uncertain significance 296958 rs1057515460 1:247612132-247612135 1:247448830-247448833
26 NLRP3 NM_004895.4(NLRP3):c.34A>C (p.Arg12=)SNV Uncertain significance 296938 rs1057515531 1:247582130-247582130 1:247418828-247418828
27 NLRP3 NM_004895.4(NLRP3):c.*604A>CSNV Uncertain significance 296962 rs1057515532 1:247612410-247612410 1:247449108-247449108
28 NLRP3 NM_004895.4(NLRP3):c.2126C>A (p.Pro709Gln)SNV Uncertain significance 583341 rs200378519 1:247588871-247588871 1:247425569-247425569
29 NLRP3 NM_004895.4(NLRP3):c.1820A>T (p.Glu607Val)SNV Uncertain significance 570991 rs745564372 1:247588565-247588565 1:247425263-247425263
30 NLRP3 NM_004895.4(NLRP3):c.2104G>A (p.Asp702Asn)SNV Uncertain significance 625986 rs781561828 1:247588849-247588849 1:247425547-247425547
31 NLRP3 NM_001243133.2(NLRP3):c.565G>A (p.Gly189Ser)SNV Uncertain significance 873944 1:247587316-247587316 1:247424014-247424014
32 NLRP3 NM_001243133.2(NLRP3):c.964A>G (p.Lys322Glu)SNV Uncertain significance 876817 1:247587715-247587715 1:247424413-247424413
33 NLRP3 NM_001243133.2(NLRP3):c.1780T>C (p.Leu594=)SNV Uncertain significance 874999 1:247588531-247588531 1:247425229-247425229
34 NLRP3 NM_001243133.2(NLRP3):c.2255G>A (p.Gly752Glu)SNV Uncertain significance 874123 1:247592991-247592991 1:247429689-247429689
35 NLRP3 NM_001243133.2(NLRP3):c.2834+1G>ASNV Uncertain significance 827985 1:247607445-247607445 1:247444143-247444143
36 NLRP3 NM_001243133.2(NLRP3):c.-686C>TSNV Uncertain significance 876633 1:247581417-247581417 1:247418115-247418115
37 NLRP3 NM_001243133.2(NLRP3):c.-523G>ASNV Uncertain significance 874739 1:247581580-247581580 1:247418278-247418278
38 NLRP3 NM_001243133.2(NLRP3):c.-407C>TSNV Uncertain significance 875680 1:247581696-247581696 1:247418394-247418394
39 NLRP3 NM_001243133.2(NLRP3):c.-369G>ASNV Uncertain significance 876674 1:247581734-247581734 1:247418432-247418432
40 NLRP3 NM_001243133.2(NLRP3):c.-339C>TSNV Uncertain significance 876675 1:247581764-247581764 1:247418462-247418462
41 NLRP3 NM_001243133.2(NLRP3):c.-219G>ASNV Uncertain significance 873837 1:247581884-247581884 1:247418582-247418582
42 NLRP3 NM_001243133.2(NLRP3):c.122G>A (p.Arg41Lys)SNV Uncertain significance 875720 1:247582224-247582224 1:247418922-247418922
43 NLRP3 NM_001243133.2(NLRP3):c.234G>A (p.Arg78=)SNV Uncertain significance 873888 1:247582336-247582336 1:247419034-247419034
44 NLRP3 NM_001243133.2(NLRP3):c.292C>G (p.Arg98Gly)SNV Uncertain significance 874838 1:247586546-247586546 1:247423244-247423244
45 NLRP3 NM_001243133.2(NLRP3):c.*2A>GSNV Uncertain significance 874174 1:247611808-247611808 1:247448506-247448506
46 NLRP3 NM_001243133.2(NLRP3):c.*139T>GSNV Uncertain significance 875106 1:247611945-247611945 1:247448643-247448643
47 NLRP3 NC_000001.11:g.247448882A>CSNV Uncertain significance 876055 1:247612184-247612184 1:247448882-247448882
48 NLRP3 NC_000001.11:g.247448935G>ASNV Uncertain significance 877015 1:247612237-247612237 1:247448935-247448935
49 NLRP3 NM_004895.4(NLRP3):c.-704C>TSNV Uncertain significance 296923 rs199723383 1:247581393-247581393 1:247418091-247418091
50 NLRP3 NM_004895.4(NLRP3):c.-623C>TSNV Uncertain significance 296925 rs200090360 1:247581474-247581474 1:247418172-247418172

UniProtKB/Swiss-Prot genetic disease variations for Muckle-Wells Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 NLRP3 p.Val200Met VAR_013227 rs121908147
2 NLRP3 p.Ala354Val VAR_013228 rs121908149
3 NLRP3 p.Arg262Trp VAR_014104 rs121908150
4 NLRP3 p.Asp305Asn VAR_014105 rs121908153
5 NLRP3 p.Gly571Arg VAR_014107 rs121908151
6 NLRP3 p.Leu307Pro VAR_014124 rs180177431
7 NLRP3 p.Thr350Met VAR_014366 rs151344629
8 NLRP3 p.Ala441Thr VAR_014369 rs180177430

Expression for Muckle-Wells Syndrome

Search GEO for disease gene expression data for Muckle-Wells Syndrome.

Pathways for Muckle-Wells Syndrome

Pathways related to Muckle-Wells Syndrome according to GeneCards Suite gene sharing:

(show all 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14 TNFRSF1A PYCARD NLRP3 NLRP1 NLRC4 MEFV
2
Show member pathways
13.28 TNFRSF1A IL1RN IL1R1 IL1B IL18 CXCL8
3
Show member pathways
13.22 TNFRSF1A IL1R1 IL1B IL18 CXCL8 CCR6
4
Show member pathways
12.82 TNFRSF1A PYCARD NLRP3 IL1B IL18 CXCL8
5
Show member pathways
12.53 PYCARD NLRP3 NLRP12 NLRP1 NLRC4 IL1RN
6 12.32 TNFRSF1A PYCARD NLRP3 NLRC4 IL1B IL18
7 12.29 TNFRSF1A PYCARD NLRP3 NLRC4 IL1R1 IL1B
8
Show member pathways
12.26 TNFRSF1A IL18 CXCL8 CCR6
9
Show member pathways
12.23 IL1RN IL1R1 IL1B CASP1
10
Show member pathways
12.22 TNFRSF1A PYCARD NLRP3 IL1B H2AC18 CASP1
11 12.21 TNFRSF1A PYCARD NLRP3 IL1R1 IL1B IL18
12
Show member pathways
12.14 PYCARD NLRP3 IL1B CASP1
13 12.06 PYCARD NLRP3 MEFV IL1B IL18 CXCL8
14
Show member pathways
12.01 PYCARD NLRP3 NLRP1 NLRC4 MEFV CASP1
15 11.9 TNFRSF1A IL1R1 IL1B CXCL8
16 11.8 PYCARD NLRP3 IL1B CXCL8 CASP1
17 11.78 IL1B IL18 CXCL8
18 11.78 IL1R1 IL1B IL18 CCR6
19 11.69 PYCARD NLRC4 IL1B IL18 CXCL8 CASP1
20
Show member pathways
11.58 TNFRSF1A IL1B CXCL8
21 11.58 PYCARD NLRP3 NLRP12 NLRP1 NLRC4 MEFV
22 11.54 TNFRSF1A IL1RN IL1R1 IL1B IL18 CXCL8
23 11.47 IL1B IL18 CXCL8
24 11.24 NLRP3 IL1R1 IL1B IL18
25 11.22 PYCARD NLRP3 NLRP12 NLRP1 NLRC4 MEFV
26 11.14 NLRP1 IL1B IL18 CASP1
27 10.57 IL1B IL18 CASP1

GO Terms for Muckle-Wells Syndrome

Cellular components related to Muckle-Wells Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.02 TNFRSF1A PYCARD NLRP3 IL1RN IL1R1 IL1B
2 inflammasome complex GO:0061702 9.32 NLRP3 NLRP1
3 AIM2 inflammasome complex GO:0097169 9.26 PYCARD CASP1
4 IPAF inflammasome complex GO:0072557 9.16 NLRC4 CASP1
5 NLRP3 inflammasome complex GO:0072559 9.13 PYCARD NLRP3 CASP1
6 NLRP1 inflammasome complex GO:0072558 8.8 PYCARD NLRP1 CASP1

Biological processes related to Muckle-Wells Syndrome according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.15 TNFRSF1A PYCARD NLRP3 NLRP12 IL1RN IL1RAPL2
2 apoptotic process GO:0006915 10.1 TNFRSF1A PYCARD NLRP3 NLRP1 NLRC4 IL1B
3 innate immune response GO:0045087 10.06 PYCARD NLRP3 NLRP1 NLRC4 MEFV CRP
4 immune response GO:0006955 10.05 IL1RN IL1R1 IL1B IL18 CXCL8 CCR6
5 regulation of apoptotic process GO:0042981 9.95 PYCARD NLRP1 NLRC4 CASP1
6 cellular response to lipopolysaccharide GO:0071222 9.93 PYCARD NLRP3 IL1B CXCL8 CASP1
7 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.91 PYCARD NLRP3 NLRC4 IL1B IL18
8 negative regulation of inflammatory response GO:0050728 9.88 TNFRSF1A NLRP3 NLRP12 MVK MEFV
9 positive regulation of inflammatory response GO:0050729 9.87 TNFRSF1A NLRP12 IL1B IL18
10 regulation of inflammatory response GO:0050727 9.83 PYCARD NLRP3 NLRP1 IL1R1 CASP1
11 negative regulation of NF-kappaB transcription factor activity GO:0032088 9.82 PYCARD NLRP3 NLRP12
12 cellular response to mechanical stimulus GO:0071260 9.8 TNFRSF1A IL1B CASP1
13 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.8 PYCARD NLRP3 NLRP1 CASP1
14 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.77 NLRP12 IL1B IL18
15 positive regulation of interferon-gamma production GO:0032729 9.76 PYCARD IL1R1 IL1B IL18
16 cytokine-mediated signaling pathway GO:0019221 9.76 TNFRSF1A IL1RN IL1RAPL2 IL1R1 IL1B IL18
17 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.73 PYCARD NLRP3 NLRP12 NLRP1 NLRC4 CASP1
18 positive regulation of interleukin-1 beta production GO:0032731 9.72 PYCARD NLRC4 CASP1
19 positive regulation of interleukin-1 beta secretion GO:0050718 9.72 PYCARD NLRP3 NLRP12 NLRP1 CASP1
20 regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043281 9.7 PYCARD NLRP12 NLRC4
21 positive regulation of neuroinflammatory response GO:0150078 9.64 IL1B IL18
22 neutrophil activation GO:0042119 9.63 IL18 CXCL8
23 positive regulation of granulocyte macrophage colony-stimulating factor production GO:0032725 9.63 IL1B IL18
24 positive regulation of cysteine-type endopeptidase activity GO:2001056 9.62 PYCARD MEFV
25 interleukin-6 production GO:0032635 9.61 IL1B IL18
26 regulation of establishment of endothelial barrier GO:1903140 9.61 TNFRSF1A IL1B
27 positive regulation of T-helper 2 cell differentiation GO:0045630 9.59 NLRP3 IL18
28 positive regulation of T-helper 1 cell cytokine production GO:2000556 9.58 IL1R1 IL1B IL18
29 inflammatory response GO:0006954 9.4 TNFRSF1A PYCARD NLRP3 NLRP1 NLRC4 MEFV
30 interleukin-1 beta production GO:0032611 9.26 PYCARD NLRP3 IL1B CASP1

Molecular functions related to Muckle-Wells Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.11 TNFRSF1A PYCARD NLRP3 NLRP12 NLRP1 NLRC4
2 identical protein binding GO:0042802 9.87 PYCARD NLRP3 NLRC4 MVK MEFV CRP
3 cytokine activity GO:0005125 9.56 IL1RN IL1B IL18 CXCL8
4 interleukin-1 receptor activity GO:0004908 8.96 IL1RAPL2 IL1R1
5 cysteine-type endopeptidase activator activity involved in apoptotic process GO:0008656 8.92 PYCARD NLRP12 NLRP1 CASP1

Sources for Muckle-Wells Syndrome

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
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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
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72 UMLS via Orphanet
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