MWS
MCID: MCK007
MIFTS: 62

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 57 12 53 25 59 75 13 55 15 40 73
Urticaria-Deafness-Amyloidosis Syndrome 57 53 25 75
Uda Syndrome 57 53 25 75
Familial Amyloid Nephropathy with Urticaria and Deafness 25 29 6
Mws 57 25 75
Neutrophilic Urticaria 59 73
Cryopyrin-Associated Periodic Syndrome 2; Caps2 57
Cryopyrin-Associated Periodic Syndrome 2 57
Urticaria, Deafness and Amyloidosis 53
Urticaria-Deafness-Amyloidosis 76
Muckle Wells Syndrome 53
Mucklewells Syndrome 76
Caps2 57

Characteristics:

Orphanet epidemiological data:

59
muckle-wells syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy,Neonatal; Age of death: adult,elderly;

OMIM:

57
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:

32
muckle-wells syndrome:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Muckle-Wells Syndrome

NIH Rare Diseases : 53 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 a medication called Anakinra during acute episodes.

MalaCards based summary : Muckle-Wells Syndrome, also known as urticaria-deafness-amyloidosis syndrome, is related to cryopyrin-associated periodic syndrome and familial cold autoinflammatory syndrome 1, 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 PAK Pathway. The drugs Paroxetine and Topiramate have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and neutrophil, and related phenotypes are macrocephaly and arthritis

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.

OMIM : 57 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 : 75 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 : 76 Muckle�??Wells syndrome (MWS), also known as urticaria-deafness-amyloidosis syndrome (UDA), is a rare... 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 150)
# Related Disease Score Top Affiliating Genes
1 cryopyrin-associated periodic syndrome 32.1 NLRP3 IL1R1 CRP
2 familial cold autoinflammatory syndrome 1 31.0 TNFRSF1A NLRP3 MEFV IL1R1 IL1B CASP1
3 amyloidosis 30.7 TNFRSF1A NLRP3 MEFV
4 wells syndrome 30.5 TNFRSF1A NLRP3 MEFV IL1R1 IL1B CRP
5 familial cold autoinflammatory syndrome 30.4 NLRP3 IL1B CASP1
6 cold urticaria 30.3 NLRP3 IL1R1
7 periodic fever, familial, autosomal dominant 29.7 TNFRSF1A NLRP3 MEFV
8 adult-onset still's disease 28.8 TNFRSF1A MEFV IL1R1 IL1B CRP
9 familial mediterranean fever 28.8 TNFRSF1A NLRP3 MEFV IL1B CRP CASP1
10 marden-walker syndrome 12.2
11 mowat-wilson syndrome 12.0
12 fetal and neonatal alloimmune thrombocytopenia 11.0
13 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
14 sensorineural hearing loss 10.3
15 urticaria 10.3
16 frasier syndrome 10.2
17 psoriatic juvenile idiopathic arthritis 10.2 NLRP3 MEFV
18 stomatitis 10.2 MEFV IL1B
19 hydrarthrosis 10.1 MEFV IL1B
20 erysipeloid 10.1 NLRP3 MEFV
21 keratoconus 10.1
22 tinea favosa 10.1 NLRP3 CASP1
23 alcoholic gastritis 10.1 IL1B CASP1
24 short-rib thoracic dysplasia 5 with or without polydactyly 10.1 TNFRSF1A NLRP3
25 silicosis 10.1 NLRP3 IL1B
26 conjunctival disease 10.1 TNFRSF1A NLRP3
27 intermittent hydrarthrosis 10.1 TNFRSF1A MEFV
28 inflammatory myopathy with abundant macrophages 10.1 TNFRSF1A MEFV
29 pneumoconiosis 10.1 NLRP3 IL1B
30 idiopathic recurrent pericarditis 10.1 TNFRSF1A MEFV
31 basal cell nevus syndrome 10.1
32 multiple sclerosis 10.1
33 autism 10.1
34 cystinuria 10.1
35 histiocytosis-lymphadenopathy plus syndrome 10.1
36 autism spectrum disorder 10.1
37 goiter 10.1
38 uveitis 10.1
39 ichthyosis 10.1
40 endometriosis 10.1
41 arthropathy 10.1
42 anterior uveitis 10.1
43 pyoderma 10.1 MEFV IL1R1
44 legionellosis 10.1 IL1B CASP1
45 joint disorders 10.1 IL1R1 IL1B
46 salmonellosis 10.0 IL1B CASP1
47 amyloidosis, familial visceral 10.0 TNFRSF1A MEFV
48 cervical adenitis 10.0 NLRP3 MEFV IL1B
49 post-transplant lymphoproliferative disease 10.0 TNFRSF1A IL1R1
50 blau syndrome 10.0 NLRP3 MEFV IL1B

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



Diseases related to Muckle-Wells Syndrome

Symptoms & Phenotypes for Muckle-Wells Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

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


Clinical features from OMIM:

191900

Human phenotypes related to Muckle-Wells Syndrome:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 arthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001369
3 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
4 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
5 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
6 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
7 ichthyosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008064
8 nephropathy 59 32 frequent (33%) Frequent (79-30%) HP:0000112
9 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
10 fever 59 32 occasional (7.5%) Occasional (29-5%) HP:0001945
11 cranial nerve paralysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0006824
12 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
13 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
14 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
15 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
16 nephrotic syndrome 59 32 frequent (33%) Frequent (79-30%) HP:0000100
17 myalgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003326
18 hernia of the abdominal wall 59 32 occasional (7.5%) Occasional (29-5%) HP:0004299
19 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
20 abnormality of the voice 59 32 occasional (7.5%) Occasional (29-5%) HP:0001608
21 conjunctivitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000509
22 skin rash 59 32 hallmark (90%) Very frequent (99-80%) HP:0000988
23 urticaria 59 32 frequent (33%) Frequent (79-30%) HP:0001025
24 vasculitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002633
25 abnormality of the genital system 59 32 occasional (7.5%) Occasional (29-5%) HP:0000078
26 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
27 abnormality of the nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0000366
28 uveitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000554
29 broad foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001769
30 recurrent aphthous stomatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0011107
31 episcleritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100534
32 restrictive ventilatory defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0002091
33 elevated erythrocyte sedimentation rate 59 32 frequent (33%) Frequent (79-30%) HP:0003565
34 progressive sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000408
35 renal amyloidosis 59 32 frequent (33%) Frequent (79-30%) HP:0001917
36 hearing impairment 32 HP:0000365
37 renal insufficiency 32 HP:0000083
38 abnormality of metabolism/homeostasis 59 Frequent (79-30%)
39 abnormality of the mouth 32 HP:0000153
40 leukocytosis 32 HP:0001974
41 abnormality of the palate 59 Occasional (29-5%)
42 abnormality of the skin 32 HP:0000951
43 episodic fever 32 HP:0001954
44 abnormal palate morphology 32 occasional (7.5%) HP:0000174

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 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.53 CASP1 IL1B NLRP3 TNFRSF1A
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.53 CASP1 IL1B NLRP3 TNFRSF1A

MGI Mouse Phenotypes related to Muckle-Wells Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.87 CASP1 CRP IL1B IL1R1 MEFV NLRP3
2 hematopoietic system MP:0005397 9.85 CASP1 IL1B IL1R1 MEFV NLRP3 TNFRSF1A
3 immune system MP:0005387 9.8 CASP1 CRP IL1B IL1R1 MEFV NLRP3
4 integument MP:0010771 9.63 CASP1 IL1B IL1R1 MEFV NLRP3 TNFRSF1A
5 neoplasm MP:0002006 9.26 CASP1 IL1B IL1R1 TNFRSF1A
6 skeleton MP:0005390 9.02 IL1B IL1R1 MEFV NLRP3 TNFRSF1A

Drugs & Therapeutics for Muckle-Wells Syndrome

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

(show top 50) (show all 137)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Paroxetine Approved, Investigational Phase 4,Phase 3 61869-08-7 43815
2
Topiramate Approved Phase 4 97240-79-4 5284627
3 Cytochrome P-450 CYP2D6 Inhibitors Phase 4,Phase 3,Phase 1
4 Serotonin Agents Phase 4,Phase 3
5 Antidepressive Agents Phase 4,Phase 3,Phase 1
6 Psychotropic Drugs Phase 4,Phase 3,Phase 1
7 Antidepressive Agents, Second-Generation Phase 4,Phase 3,Phase 1
8 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3,Phase 1
9 Neurotransmitter Agents Phase 4,Phase 3,Phase 1
10 Serotonin Uptake Inhibitors Phase 4,Phase 3
11 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3,Phase 1
12 Protective Agents Phase 4
13 Anticonvulsants Phase 4
14 Anti-Obesity Agents Phase 4
15 Neuroprotective Agents Phase 4
16
Serotonin Investigational, Nutraceutical Phase 4,Phase 3 50-67-9 5202
17
Dopamine Approved Phase 3,Phase 1 51-61-6, 62-31-7 681
18
Sertraline Approved Phase 3 79617-96-2 68617
19 Brexpiprazole Approved, Investigational Phase 3 913611-97-9
20 Antibodies, Monoclonal Phase 3,Phase 2
21 Antibodies Phase 3,Phase 2
22 Immunologic Factors Phase 3,Phase 2
23 Immunoglobulins Phase 3,Phase 2
24 Vaccines Phase 3
25 Quetiapine Fumarate Phase 3 111974-72-2
26 Tranquilizing Agents Phase 3,Phase 1
27 Antipsychotic Agents Phase 3
28 Central Nervous System Depressants Phase 3,Phase 1
29 Dopamine Agents Phase 3,Phase 1
30 Dopamine agonists Phase 3
31
Coal tar Approved Phase 2 8007-45-2
32
Mifepristone Approved, Investigational Phase 2 84371-65-3 55245
33
Budesonide Approved Phase 2 51333-22-3 63006 5281004
34
Cytarabine Approved, Investigational Phase 2 147-94-4 6253
35
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
36
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
37
leucovorin Approved Phase 2 58-05-9 6006 143
38
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
39
Cyclophosphamide Approved, Investigational Phase 2 6055-19-2, 50-18-0 2907
40
Pegaspargase Approved, Investigational Phase 2 130167-69-0
41
Daunorubicin Approved Phase 2 20830-81-3 30323
42
Vincristine Approved, Investigational Phase 2 57-22-7, 2068-78-2 5978
43
rituximab Approved Phase 2 174722-31-7 10201696
44
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
45
Etoposide Approved Phase 2 33419-42-0 36462
46
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
47
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
48 Contraceptives, Oral Phase 2
49 Contraceptive Agents Phase 2
50 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 Paroxetine Treatment in Outpatients With Comorbid PTSD and Substance Dependence Completed NCT00330239 Phase 4 Paroxetine CR
2 Placebo Controled Clinical Trial Using Topiramate To Treat Posttraumatic Stress Disorder (PTSD) Patients. Completed NCT00725920 Phase 4 Topiramate;placebo control group
3 Efficacy, Safety, and Tolerability of ACZ885 in Patients With Muckle-Wells Syndrome Completed NCT00465985 Phase 3 ACZ885;Placebo
4 Efficacy and Safety of ACZ885 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)
5 Efficacy and Safety Study of Canakinumab Administered for 6 Months (24 Weeks) in Japanese Patients With Cryopyrin-associated Periodic Syndromes Followed by an Extension Phase Completed NCT00991146 Phase 3 canakinumab
6 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT01576367 Phase 3
7 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT01302860 Phase 3 ACZ885
8 Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS) Completed NCT00288704 Phase 3 rilonacept 160 mg;Placebo;rilonacept 160 mg
9 Use of Quetiapine as an Add on Therapy in the Treatment of Post Traumatic Stress Disorder Completed NCT00306540 Phase 3 Quetiapine Fumarate;quetiapine fumarate placebo
10 A Study of Canakinumab in Patients With Systemic Juvenile Idiopathic Arthritis or Hereditary Periodic Fevers Who Participated in the CACZ885G2301E1, CACZ885G2306 or CACZ885N2301 Studies Completed NCT02334748 Phase 3 canakinumab
11 The Safety and Efficacy of Canakinumab in Patients Aged 4 Years or Older Diagnosed With Cryopyrin-associated Periodic Syndromes (CAPS) in Canada Completed NCT01105507 Phase 3 canakinumab (company code: ACZ885D)
12 Brexpiprazole as an Adjunctive Treatment to Paroxetine or Sertraline in Adult Patients Suffering From Post-traumatic Stress Disorder (PTSD) Terminated NCT01987960 Phase 3 Placebo;Brexpiprazole
13 Trial of Mifepristone in Combat Veterans With Posttraumatic Stress Disorder Unknown status NCT00833339 Phase 2 mifepristone;placebo
14 Safety and Tolerability of Rilonacept in Muckle-Wells Syndrome (MWS) or Schnitzler Syndrome (SchS) Completed NCT01045772 Phase 2 rilonacept
15 Interleukin-1 Trap to Treat Autoinflammatory Diseases Completed NCT00094900 Phase 2 IL-1 Trap
16 Safety, Efficacy, Pharmacokinetics, Pharmacodynamics of ACZ885 in Patients With NALP3 Mutations and Clinical Symptoms Completed NCT00487708 Phase 2 canakinumab
17 Safety, Tolerability and PD Activity of Inhaled TPI 1020 Versus Inhaled Budesonide in COPD Patients Completed NCT00483743 Phase 2 TPI 1020;Budesonide;Placebo
18 Chemotherapy With Liposomal Cytarabine CNS Prophylaxis for Adult Acute Lymphoblastic Leukemia & Lymphoblastic Lymphoma Active, not recruiting NCT02043587 Phase 2 DNR;VCR;PEG-asp;CTX;Prednisone;Liposomal AraC;MTX;LCV;AraC;Etoposide;Dasatinib;Rituximab;Hydrocortisone
19 Exercise: A Novel Treatment for Combat Post Traumatic Stress Disorder Terminated NCT01626131 Phase 2
20 HL2351 CAPS Phase II Study Terminated NCT02853084 Phase 2 HL2351
21 A Pilot Study of XOMA 052 in Familial Cold Autoinflammatory Syndrome / Muckle-Wells Syndrome and Behcet's Disease Withdrawn NCT01211977 Phase 1, Phase 2 XOMA 052
22 Evaluation of the Potential Pharmacokinetic Interactions Between Probe Drugs in the Geneva Phenotyping Cocktail Completed NCT02391688 Phase 1 Caffeine, omeprazole, flurbiprofen, dextromethorphan, midazolam;Bupropion;Fexofenadine
23 Cocktail Approach for Cytochrome P450 and P-glycoprotein Activity Assessment Using Dried Blood Spot Completed NCT01731067 Phase 1 Cocktail probe drugs
24 Study of Eye Movement Desensitization and Reprocessing (EMDR) Working Mechanism Unknown status NCT01209377 Not Applicable
25 The CAP-2 Trial: Effect of Direct Pulp Capping Versus Partial Pulpotomy Completed NCT00187850 Not Applicable
26 Novel Treatment of Emotional Dysfunction in Post Traumatic Stress Disorder (PTSD) Completed NCT01391832 Not Applicable
27 Carbohydrate Restriction and Prostate Cancer Growth Completed NCT01763944 Not Applicable
28 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Factors Completed NCT00933296
29 A Study of Nutritional Supplementation in Altering Ecchymosis, Erythema and Health Outcomes Associated With Aesthetic Procedures Completed NCT01919359 Not Applicable
30 Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) Patients Completed NCT01213641
31 Does the Cap Increase the Finding of Polyps When Water Exchange Colonoscopy is Used Recruiting NCT03566615 Not Applicable
32 Comparing Postoperative Pain Following COX-2 and Prostanoids Expression Recruiting NCT03391570 Not Applicable COX-2 inhibitor;Placebo Oral Tablet
33 Continued Access to PREVAIL (CAP2) - WATCHMAN Left Atrial Appendage (LAA) Closure Technology Active, not recruiting NCT01760291 Not Applicable
34 Bright Light: An Adjunct Treatment for Combat Posttraumatic Stress Disorder (PTSD) Active, not recruiting NCT00701064 Not Applicable

Search NIH Clinical Center for Muckle-Wells Syndrome

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:

41
Skin, Kidney, Neutrophil, Bone, Brain, Lymph Node, B Cells

Publications for Muckle-Wells Syndrome

Articles related to Muckle-Wells Syndrome:

(show top 50) (show all 79)
# Title Authors Year
1
<i>De novo ATP1A3</i> and compound heterozygous <i>NLRP3</i> mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. ( 29922587 )
2018
2
Resolution of unilateral sensorineural hearing loss in a pediatric patient with a severe phenotype of Muckle-Wells syndrome treated with Anakinra: a case report and review of the literature. ( 29382382 )
2018
3
A Case of Muckle-Wells Syndrome due to novel NLRP3 mutation. ( 30157308 )
2018
4
Early canakinumab therapy for the sensorineural deafness in a family with Muckle-Wells syndrome due to a novel mutation of NLRP3 gene. ( 30338413 )
2018
5
Ocular Involvement in Muckle-Wells Syndrome. ( 30556770 )
2018
6
Muckle-Wells syndrome: clinical perspectives. ( 28744167 )
2017
7
A Novel Mutation in the Pyrin Domain of the NOD-like Receptor Family Pyrin Domain Containing Protein 3 in Muckle-Wells Syndrome. ( 28229991 )
2017
8
Muckle-Wells syndrome in the setting of basal cell nevus syndrome. ( 28686751 )
2017
9
Periodic fever: From Still's disease to Muckle-Wells syndrome. ( 28583784 )
2017
10
A Case of Amyloidosis Caused by Sporadic Muckle-Wells Syndrome: Response to Treatment With Anakinra. ( 29239931 )
2017
11
Placental Transfer of Canakinumab in a Patient with Muckle-Wells Syndrome. ( 28386702 )
2017
12
Endometriosis in the setting of Muckle-Wells syndrome treated with an IL-1I^ antagonist. ( 28508753 )
2017
13
Muckle-Wells syndrome in Chinese patients: a single center case series. ( 28028683 )
2017
14
Muckle-Wells Syndrome: A Case Report with an NLRP3 T348M Mutation. ( 27435956 )
2016
15
Budget Impact Analysis of Canacinumab In The Treatment of Patients With Muckle-Wells Syndrome In The Russian Federation. ( 26533715 )
2015
16
Early detection of sensorineural hearing loss in Muckle-Wells-syndrome. ( 26531310 )
2015
17
Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation. ( 25766347 )
2015
18
Muckle-Wells syndrome: a rare hereditary cryopyrin-associated periodic syndrome. ( 26218404 )
2015
19
Renal involvement in secondary amyloidosis of Muckle-Wells syndrome: marked improvement of renal function and reduction of proteinuria after therapy with human anti-interleukin-1I^ monoclonal antibody canakinumab. ( 24510061 )
2014
20
Muckle wells syndrome associated with multifocal clinically isolated syndrome. ( 24618190 )
2014
21
Challenges in diagnosing Muckle-Wells syndrome: identifying two distinct phenotypes. ( 24127202 )
2014
22
Hearing loss in Muckle-Wells syndrome. ( 23440695 )
2013
23
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes. ( 24326009 )
2013
24
Chronic keratitis with intrastromal epithelioid histiocytes: a new finding in Muckle-Wells syndrome. ( 23187166 )
2013
25
Treatment of Muckle-Wells syndrome: analysis of two IL-1-blocking regimens. ( 23718630 )
2013
26
Muckle-Wells syndrome without mutation in exon 3 of the NLRP3 gene, identified by evidence of excessive monocyte production of functional interleukin 1I^ and rapid response to anakinra. ( 23889084 )
2013
27
Muckle-Wells syndrome: individualized, reflare-guided dosing of the orphan drug canakinumab. ( 23745225 )
2013
28
Muckle-Wells syndrome: a treatable cause of congenital sensorineural hearing loss. ( 23909124 )
2013
29
Renal and thyroid amyloidosis secondary tocryopyrin-associated periodic syndrome(Muckle-Wells syndrome) (NLRP3 mutation). ( 23511763 )
2013
30
Muckle-Wells syndrome and male hypofertility: a case series. ( 22512814 )
2012
31
Progressive familial hearing loss in Muckle-Wells syndrome. ( 22497426 )
2012
32
Successful renal transplantation in Muckle-Wells syndrome treated with anti-IL-1I^-monoclonal antibody. ( 25984207 )
2011
33
Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome. ( 21360513 )
2011
34
NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment. ( 22146561 )
2011
35
An unusual phenotype in Muckle-Wells syndrome associated with NLRP3 E311K. ( 20819795 )
2011
36
Muckle-Wells syndrome effectively treated with canakinumab: is the recommended dosing schedule mandatory? ( 21967869 )
2011
37
Audiometric characteristics of a Dutch family with Muckle-Wells syndrome. ( 21810457 )
2011
38
Risk factors for severe Muckle-Wells syndrome. ( 20722029 )
2010
39
Muckle-Wells syndrome/neonatal-onset multisystem inflammatory disease overlap associated with myelodysplasia and cerebrovascular accident. ( 20456407 )
2010
40
[Improvement of sensoneurinal hearing loss in a patient with Muckle-Wells syndrome treated with anakinra]. ( 20135584 )
2010
41
Four cases of Muckle-Wells syndrome within the same family. ( 21308320 )
2010
42
Brain multiple sclerosis-like lesions in a patient with Muckle-Wells syndrome. ( 19828598 )
2009
43
H syndrome and Muckle-Wells syndrome. ( 19615552 )
2009
44
Hyperpigmented, hypertrichotic, and sclerodermoid plaques: an unusual variant of Muckle-Wells syndrome. ( 19664849 )
2009
45
Quiz page. Muckle Wells syndrome. ( 18971008 )
2008
46
Anakinra improves sensory deafness in a Japanese patient with Muckle-Wells syndrome, possibly by inhibiting the cryopyrin inflammasome. ( 18311804 )
2008
47
Muckle-Wells syndrome: another cause of acute anterior uveitis. ( 17277755 )
2007
48
A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra. ( 17486372 )
2007
49
Diagnosis of Muckle-Wells syndrome - 33 years later. ( 18061973 )
2007
50
Lasting remission of a Muckle-Wells syndrome with CIAS-1 mutation using half-dose anakinra. ( 17892965 )
2007

Variations for Muckle-Wells Syndrome

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

75
# 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
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

ClinVar genetic disease variations for Muckle-Wells Syndrome:

6 (show top 50) (show all 136)
# Gene Variation Type Significance SNP ID Assembly Location
1 NLRP3 NM_001243133.1(NLRP3): c.592G> A (p.Val198Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121908147 GRCh37 Chromosome 1, 247587343: 247587343
2 NLRP3 NM_001243133.1(NLRP3): c.592G> A (p.Val198Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121908147 GRCh38 Chromosome 1, 247424041: 247424041
3 NLRP3 NM_001243133.1(NLRP3): c.1055C> T (p.Ala352Val) single nucleotide variant Pathogenic rs121908149 GRCh37 Chromosome 1, 247587806: 247587806
4 NLRP3 NM_001243133.1(NLRP3): c.1055C> T (p.Ala352Val) single nucleotide variant Pathogenic rs121908149 GRCh38 Chromosome 1, 247424504: 247424504
5 NLRP3 NM_001243133.1(NLRP3): c.778C> T (p.Arg260Trp) single nucleotide variant Pathogenic rs121908150 GRCh37 Chromosome 1, 247587529: 247587529
6 NLRP3 NM_001243133.1(NLRP3): c.778C> T (p.Arg260Trp) single nucleotide variant Pathogenic rs121908150 GRCh38 Chromosome 1, 247424227: 247424227
7 NLRP3 NM_001243133.1(NLRP3): c.1705G> C (p.Gly569Arg) single nucleotide variant Pathogenic rs121908151 GRCh37 Chromosome 1, 247588456: 247588456
8 NLRP3 NM_001243133.1(NLRP3): c.1705G> C (p.Gly569Arg) single nucleotide variant Pathogenic rs121908151 GRCh38 Chromosome 1, 247425154: 247425154
9 NLRP3 NM_001243133.1(NLRP3): c.907G> A (p.Asp303Asn) single nucleotide variant Pathogenic rs121908153 GRCh37 Chromosome 1, 247587658: 247587658
10 NLRP3 NM_001243133.1(NLRP3): c.907G> A (p.Asp303Asn) single nucleotide variant Pathogenic rs121908153 GRCh38 Chromosome 1, 247424356: 247424356
11 NLRP3 NM_001243133.1(NLRP3): c.1032G> A (p.Leu344=) single nucleotide variant Benign/Likely benign rs180177471 GRCh37 Chromosome 1, 247587783: 247587783
12 NLRP3 NM_001243133.1(NLRP3): c.1032G> A (p.Leu344=) single nucleotide variant Benign/Likely benign rs180177471 GRCh38 Chromosome 1, 247424481: 247424481
13 NLRP3 NM_001243133.1(NLRP3): c.1043C> T (p.Thr348Met) single nucleotide variant Pathogenic rs151344629 GRCh37 Chromosome 1, 247587794: 247587794
14 NLRP3 NM_001243133.1(NLRP3): c.1043C> T (p.Thr348Met) single nucleotide variant Pathogenic rs151344629 GRCh38 Chromosome 1, 247424492: 247424492
15 NLRP3 NM_001243133.1(NLRP3): c.1231C> T (p.Leu411=) single nucleotide variant Benign/Likely benign rs148478875 GRCh37 Chromosome 1, 247587982: 247587982
16 NLRP3 NM_001243133.1(NLRP3): c.1231C> T (p.Leu411=) single nucleotide variant Benign/Likely benign rs148478875 GRCh38 Chromosome 1, 247424680: 247424680
17 NLRP3 NM_001243133.1(NLRP3): c.1374C> T (p.His458=) single nucleotide variant Likely benign rs180177481 GRCh37 Chromosome 1, 247588125: 247588125
18 NLRP3 NM_001243133.1(NLRP3): c.1374C> T (p.His458=) single nucleotide variant Likely benign rs180177481 GRCh38 Chromosome 1, 247424823: 247424823
19 NLRP3 NM_001243133.1(NLRP3): c.1389C> T (p.His463=) single nucleotide variant Benign/Likely benign rs111400208 GRCh37 Chromosome 1, 247588140: 247588140
20 NLRP3 NM_001243133.1(NLRP3): c.1389C> T (p.His463=) single nucleotide variant Benign/Likely benign rs111400208 GRCh38 Chromosome 1, 247424838: 247424838
21 NLRP3 NM_001243133.1(NLRP3): c.1600C> T (p.Leu534=) single nucleotide variant Benign/Likely benign rs116054301 GRCh37 Chromosome 1, 247588351: 247588351
22 NLRP3 NM_001243133.1(NLRP3): c.1600C> T (p.Leu534=) single nucleotide variant Benign/Likely benign rs116054301 GRCh38 Chromosome 1, 247425049: 247425049
23 NLRP3 NM_001243133.1(NLRP3): c.587G> A (p.Ser196Asn) single nucleotide variant Likely benign rs180177459 GRCh37 Chromosome 1, 247587338: 247587338
24 NLRP3 NM_001243133.1(NLRP3): c.587G> A (p.Ser196Asn) single nucleotide variant Likely benign rs180177459 GRCh38 Chromosome 1, 247424036: 247424036
25 NLRP3 NM_001243133.1(NLRP3): c.944C> T (p.Pro315Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs180177462 GRCh37 Chromosome 1, 247587695: 247587695
26 NLRP3 NM_001243133.1(NLRP3): c.944C> T (p.Pro315Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs180177462 GRCh38 Chromosome 1, 247424393: 247424393
27 NLRP3 NM_001079821.2(NLRP3): c.-39+51G> A single nucleotide variant Likely benign rs199475727 GRCh37 Chromosome 1, 247581643: 247581643
28 NLRP3 NM_001079821.2(NLRP3): c.-39+51G> A single nucleotide variant Likely benign rs199475727 GRCh38 Chromosome 1, 247418341: 247418341
29 NLRP3 NM_004895.4(NLRP3): c.213C> T (p.Ala71=) single nucleotide variant Benign/Likely benign rs200082602 GRCh37 Chromosome 1, 247582309: 247582309
30 NLRP3 NM_004895.4(NLRP3): c.213C> T (p.Ala71=) single nucleotide variant Benign/Likely benign rs200082602 GRCh38 Chromosome 1, 247419007: 247419007
31 NLRP3 NM_004895.4(NLRP3): c.732G> A (p.Ala244=) single nucleotide variant Benign rs3806268 GRCh37 Chromosome 1, 247587477: 247587477
32 NLRP3 NM_004895.4(NLRP3): c.732G> A (p.Ala244=) single nucleotide variant Benign rs3806268 GRCh38 Chromosome 1, 247424175: 247424175
33 NLRP3 NM_004895.4(NLRP3): c.1050G> A (p.Thr350=) single nucleotide variant Benign/Likely benign rs143140947 GRCh37 Chromosome 1, 247587795: 247587795
34 NLRP3 NM_004895.4(NLRP3): c.1050G> A (p.Thr350=) single nucleotide variant Benign/Likely benign rs143140947 GRCh38 Chromosome 1, 247424493: 247424493
35 NLRP3 NM_004895.4(NLRP3): c.1590C> T (p.Ala530=) single nucleotide variant Conflicting interpretations of pathogenicity rs201644343 GRCh37 Chromosome 1, 247588335: 247588335
36 NLRP3 NM_004895.4(NLRP3): c.1590C> T (p.Ala530=) single nucleotide variant Conflicting interpretations of pathogenicity rs201644343 GRCh38 Chromosome 1, 247425033: 247425033
37 NLRP3 NM_004895.4(NLRP3): c.1926C> T (p.Phe642=) single nucleotide variant Benign/Likely benign rs34698071 GRCh37 Chromosome 1, 247588671: 247588671
38 NLRP3 NM_004895.4(NLRP3): c.1926C> T (p.Phe642=) single nucleotide variant Benign/Likely benign rs34698071 GRCh38 Chromosome 1, 247425369: 247425369
39 NLRP3 NM_004895.4(NLRP3): c.2124C> T (p.Leu708=) single nucleotide variant Conflicting interpretations of pathogenicity rs149493236 GRCh37 Chromosome 1, 247588869: 247588869
40 NLRP3 NM_004895.4(NLRP3): c.2124C> T (p.Leu708=) single nucleotide variant Conflicting interpretations of pathogenicity rs149493236 GRCh38 Chromosome 1, 247425567: 247425567
41 NLRP3 NM_004895.4(NLRP3): c.749A> G (p.Gln250Arg) single nucleotide variant Uncertain significance rs876660971 GRCh38 Chromosome 1, 247424192: 247424192
42 NLRP3 NM_004895.4(NLRP3): c.749A> G (p.Gln250Arg) single nucleotide variant Uncertain significance rs876660971 GRCh37 Chromosome 1, 247587494: 247587494
43 NLRP3 NM_004895.4(NLRP3): c.2182A> G (p.Ser728Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs147946775 GRCh37 Chromosome 1, 247592912: 247592912
44 NLRP3 NM_004895.4(NLRP3): c.2182A> G (p.Ser728Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs147946775 GRCh38 Chromosome 1, 247429610: 247429610
45 NLRP3 NM_004895.4(NLRP3): c.2767A> G (p.Thr923Ala) single nucleotide variant Uncertain significance rs200089542 GRCh38 Chromosome 1, 247444069: 247444069
46 NLRP3 NM_004895.4(NLRP3): c.2767A> G (p.Thr923Ala) single nucleotide variant Uncertain significance rs200089542 GRCh37 Chromosome 1, 247607371: 247607371
47 NLRP3 NM_004895.4(NLRP3): c.2861C> T (p.Thr954Met) single nucleotide variant Conflicting interpretations of pathogenicity rs139814109 GRCh37 Chromosome 1, 247607973: 247607973
48 NLRP3 NM_004895.4(NLRP3): c.2861C> T (p.Thr954Met) single nucleotide variant Conflicting interpretations of pathogenicity rs139814109 GRCh38 Chromosome 1, 247444671: 247444671
49 NLRP3 NM_004895.4(NLRP3): c.214G> A (p.Val72Met) single nucleotide variant Benign/Likely benign rs117287351 GRCh38 Chromosome 1, 247419008: 247419008
50 NLRP3 NM_004895.4(NLRP3): c.214G> A (p.Val72Met) single nucleotide variant Benign/Likely benign rs117287351 GRCh37 Chromosome 1, 247582310: 247582310

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 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.62 CASP1 CRP IL1B IL1R1 MEFV NLRP3
2
Show member pathways
12.98 CASP1 IL1B IL1R1 TNFRSF1A
3
Show member pathways
12.57 CASP1 IL1B MEFV NLRP3 TNFRSF1A
4
Show member pathways
12.54 CASP1 IL1B NLRP3 TNFRSF1A
5 12.49 CASP1 IL1B IL1R1 TNFRSF1A
6
Show member pathways
12.42 IL1B IL1R1 TNFRSF1A
7
Show member pathways
12.4 IL1B IL1R1 TNFRSF1A
8
Show member pathways
12.33 CASP1 IL1B IL1R1 TNFRSF1A
9
Show member pathways
12.07 CASP1 IL1B IL1R1
10
Show member pathways
11.98 CASP1 IL1B NLRP3
11 11.88 IL1B IL1R1 TNFRSF1A
12 11.82 IL1B IL1R1 TNFRSF1A
13
Show member pathways
11.75 CASP1 MEFV NLRP3
14
Show member pathways
11.72 CASP1 IL1B IL1R1 TNFRSF1A
15
Show member pathways
11.69 CASP1 IL1B NLRP3 TNFRSF1A
16 11.61 IL1B IL1R1 TNFRSF1A
17 11.43 CASP1 IL1B NLRP3
18
Show member pathways
11.41 IL1B TNFRSF1A
19 11.35 CASP1 IL1B
20 11.33 IL1R1 TNFRSF1A
21
Show member pathways
11.22 IL1B IL1R1
22 11.12 IL1B IL1R1 TNFRSF1A
23 10.92 CASP1 IL1B
24 10.54 CASP1 IL1B MEFV NLRP3
25 10.53 IL1B IL1R1 NLRP3
26 10.28 CASP1 IL1B

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 9.35 CRP IL1B IL1R1 NLRP3 TNFRSF1A
2 autophagosome GO:0005776 9.16 IL1B MEFV
3 NLRP3 inflammasome complex GO:0072559 8.62 CASP1 NLRP3

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.91 CASP1 IL1B IL1R1 NLRP3 TNFRSF1A
2 apoptotic process GO:0006915 9.78 CASP1 IL1B NLRP3 TNFRSF1A
3 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.63 CASP1 IL1B TNFRSF1A
4 cellular response to lipopolysaccharide GO:0071222 9.61 CASP1 IL1B NLRP3
5 negative regulation of inflammatory response GO:0050728 9.58 MEFV NLRP3 TNFRSF1A
6 regulation of inflammatory response GO:0050727 9.57 IL1R1 NLRP3
7 interleukin-1-mediated signaling pathway GO:0070498 9.56 IL1B IL1R1
8 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.55 CASP1 NLRP3
9 positive regulation of interferon-gamma production GO:0032729 9.54 IL1B IL1R1
10 cellular response to organic substance GO:0071310 9.52 CASP1 IL1B
11 cellular response to mechanical stimulus GO:0071260 9.5 CASP1 IL1B TNFRSF1A
12 positive regulation of interleukin-1 beta secretion GO:0050718 9.49 CASP1 NLRP3
13 regulation of establishment of endothelial barrier GO:1903140 9.37 IL1B TNFRSF1A
14 interleukin-1 beta production GO:0032611 9.26 IL1B NLRP3
15 cytokine-mediated signaling pathway GO:0019221 9.26 CASP1 IL1B IL1R1 TNFRSF1A
16 positive regulation of T-helper 1 cell cytokine production GO:2000556 9.16 IL1B IL1R1
17 inflammatory response GO:0006954 9.1 CRP IL1B IL1R1 MEFV NLRP3 TNFRSF1A

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.92 CASP1 CRP MEFV NLRP3

Sources for Muckle-Wells Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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