MCID: MCK007
MIFTS: 64

Muckle-Wells Syndrome

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

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.

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.

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 111)
# Related Disease Score Top Affiliating Genes
1 cryopyrin-associated periodic syndrome 31.2 CRP IL1R1 NLRP3
2 cold urticaria 30.3 IL1R1 NLRP3
3 amyloidosis 30.3 MEFV NLRP3 TNFRSF1A
4 familial cold autoinflammatory syndrome 29.9 CASP1 IL1B NLRP3
5 familial cold autoinflammatory syndrome 1 29.3 CASP1 IL1B IL1R1 MEFV NLRP3 TNFRSF1A
6 wells syndrome 28.0 CRP IL1B IL1R1 MEFV NLRP3 TNFRSF1A
7 mowat-wilson syndrome 11.9
8 marden-walker syndrome 11.8
9 psoriatic juvenile idiopathic arthritis 10.5 MEFV NLRP3
10 erysipeloid 10.5 MEFV NLRP3
11 systemic onset juvenile idiopathic arthritis 10.5 IL1B MEFV
12 pyoderma gangrenosum 10.4 MEFV NLRP3
13 tinea favosa 10.4 CASP1 NLRP3
14 hydrarthrosis 10.4 IL1B MEFV
15 short-rib thoracic dysplasia 5 with or without polydactyly 10.4 NLRP3 TNFRSF1A
16 inflammatory myopathy with abundant macrophages 10.4 MEFV TNFRSF1A
17 intermittent hydrarthrosis 10.3 MEFV TNFRSF1A
18 conjunctival disease 10.3 NLRP3 TNFRSF1A
19 silicosis 10.3 IL1B NLRP3
20 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
21 idiopathic recurrent pericarditis 10.3 MEFV TNFRSF1A
22 pneumoconiosis 10.3 IL1B NLRP3
23 sensorineural hearing loss 10.2
24 urticaria 10.2
25 salmonellosis 10.2 CASP1 IL1B
26 joint disorders 10.2 IL1B IL1R1
27 amyloidosis, familial visceral 10.2 MEFV TNFRSF1A
28 pyoderma 10.1 IL1R1 MEFV
29 post-transplant lymphoproliferative disease 10.1 IL1R1 TNFRSF1A
30 cervical adenitis 10.1 IL1B MEFV NLRP3
31 familial cold autoinflammatory syndrome 2 10.1 CRP NLRP3
32 blau syndrome 10.1 IL1B MEFV NLRP3
33 aphthous stomatitis 10.1 IL1B MEFV NLRP3
34 chronic meningitis 10.1 CRP NLRP3
35 osteomyelitis 10.0 CASP1 IL1B
36 uremic pruritus 10.0 CRP IL1B
37 suppurative otitis media 10.0 CRP IL1B
38 hypersensitivity reaction disease 10.0 IL1B MEFV
39 chronic recurrent multifocal osteomyelitis 10.0 CASP1 IL1B NLRP3
40 central nervous system vasculitis 10.0 CRP IL1B
41 scrub typhus 10.0 CRP IL1B
42 skeletal tuberculosis 9.9 CRP NLRP3
43 basal cell nevus syndrome 9.9
44 multiple sclerosis 9.9
45 autism 9.9
46 cystinuria 9.9
47 histiocytosis-lymphadenopathy plus syndrome 9.9
48 autism spectrum disorder 9.9
49 goiter 9.9
50 uveitis 9.9

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 32 59 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 TNFRSF1A CASP1 IL1B NLRP3

MGI Mouse Phenotypes related to Muckle-Wells Syndrome:

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

Drugs & Therapeutics for Muckle-Wells Syndrome

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

(show top 50) (show all 141)
# 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 Antidepressive Agents Phase 4,Phase 3,Phase 1
4 Antidepressive Agents, Second-Generation Phase 4,Phase 3,Phase 1
5 Cytochrome P-450 CYP2D6 Inhibitors Phase 4,Phase 3,Phase 1
6 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3,Phase 1
7 Neurotransmitter Agents Phase 4,Phase 3,Phase 1
8 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3,Phase 1
9 Psychotropic Drugs Phase 4,Phase 3,Phase 1
10 Serotonin Agents Phase 4,Phase 3
11 Serotonin Uptake Inhibitors Phase 4,Phase 3
12 Anticonvulsants Phase 4
13 Anti-Obesity Agents Phase 4
14 Neuroprotective Agents Phase 4
15 Protective Agents Phase 4
16
Serotonin Investigational, Nutraceutical Phase 4,Phase 3 50-67-9 5202
17
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
18
Warfarin Approved Phase 3 81-81-2 6691 54678486
19
Dopamine Approved Phase 3,Phase 1 51-61-6, 62-31-7 681
20 Brexpiprazole Approved, Investigational Phase 3 913611-97-9 11978813
21
Sertraline Approved Phase 3 79617-96-2 68617
22 tannic acid Approved, Nutraceutical Phase 3
23 Anticoagulants Phase 3
24 Antibodies Phase 3,Phase 2
25 Antibodies, Monoclonal Phase 3,Phase 2
26 Immunoglobulins Phase 3,Phase 2
27 Vaccines Phase 3
28 Antipsychotic Agents Phase 3
29 Central Nervous System Depressants Phase 3,Phase 1
30 Quetiapine Fumarate Phase 3 111974-72-2
31 Tranquilizing Agents Phase 3,Phase 1
32 Dopamine Agents Phase 3,Phase 1
33 Dopamine agonists Phase 3
34
Coal tar Approved Phase 2 8007-45-2
35
Mifepristone Approved, Investigational Phase 2 84371-65-3 55245
36
Budesonide Approved Phase 2 51333-22-3 63006 5281004
37
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
38
Cytarabine Approved, Investigational Phase 2 147-94-4 6253
39
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
40
Daunorubicin Approved Phase 2 20830-81-3 30323
41
Etoposide Approved Phase 2 33419-42-0 36462
42
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
43
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
44
Pegaspargase Approved, Investigational Phase 2 130167-69-0
45
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
46
rituximab Approved Phase 2 174722-31-7 10201696
47
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
48
Menthol Approved Phase 2 2216-51-5 16666
49
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
50
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006

Interventional clinical trials:

(show all 35)
# 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 Evaluation of the WATCHMAN LAA Closure Device in Patients With Atrial Fibrillation Versus Long Term Warfarin Therapy Unknown status NCT01182441 Phase 3 Warfarin
4 Efficacy, Safety, and Tolerability of ACZ885 in Patients With Muckle-Wells Syndrome Completed NCT00465985 Phase 3 ACZ885;Placebo
5 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)
6 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
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 NCT01576367 Phase 3
8 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
9 Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS) Completed NCT00288704 Phase 3 rilonacept 160 mg;Placebo;rilonacept 160 mg
10 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
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 A Study of Canakinumab in Patients With Systemic Juvenile Idiopathic Arthritis or Hereditary Periodic Fevers Who Participated in the CACZ885G2301E1, CACZ885G2306 or CACZ885N2301 Studies Active, not recruiting NCT02334748 Phase 3 canakinumab
13 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
14 Trial of Mifepristone in Combat Veterans With Posttraumatic Stress Disorder Unknown status NCT00833339 Phase 2 mifepristone;placebo
15 Safety and Tolerability of Rilonacept in Muckle-Wells Syndrome (MWS) or Schnitzler Syndrome (SchS) Completed NCT01045772 Phase 2 rilonacept
16 Interleukin-1 Trap to Treat Autoinflammatory Diseases Completed NCT00094900 Phase 2 IL-1 Trap
17 Safety, Efficacy, Pharmacokinetics, Pharmacodynamics of ACZ885 in Patients With NALP3 Mutations and Clinical Symptoms Completed NCT00487708 Phase 2 canakinumab
18 Safety, Tolerability and PD Activity of Inhaled TPI 1020 Versus Inhaled Budesonide in COPD Patients Completed NCT00483743 Phase 2 TPI 1020;Budesonide;Placebo
19 Chemotherapy With Liposomal Cytarabine CNS Prophylaxis for Adult Acute Lymphoblastic Leukemia & Lymphoblastic Lymphoma Recruiting NCT02043587 Phase 2 DNR;VCR;PEG-asp;CTX;Prednisone;Liposomal AraC;MTX;LCV;AraC;Etoposide;Dasatinib;Rituximab;Hydrocortisone
20 Exercise: A Novel Treatment for Combat Post Traumatic Stress Disorder Terminated NCT01626131 Phase 2
21 HL2351 CAPS Phase II Study Terminated NCT02853084 Phase 2 HL2351
22 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
23 Bright Light: An Adjunct Treatment for Combat Posttraumatic Stress Disorder (PTSD) Unknown status NCT00701064 Phase 1
24 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
25 Cocktail Approach for Cytochrome P450 and P-glycoprotein Activity Assessment Using Dried Blood Spot Completed NCT01731067 Phase 1 Cocktail probe drugs
26 Study of Eye Movement Desensitization and Reprocessing (EMDR) Working Mechanism Unknown status NCT01209377 Not Applicable
27 The CAP-2 Trial: Effect of Direct Pulp Capping Versus Partial Pulpotomy Completed NCT00187850 Not Applicable
28 Novel Treatment of Emotional Dysfunction in Post Traumatic Stress Disorder (PTSD) Completed NCT01391832 Not Applicable
29 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Factors Completed NCT00933296
30 A Study of Nutritional Supplementation in Altering Ecchymosis, Erythema and Health Outcomes Associated With Aesthetic Procedures Completed NCT01919359 Not Applicable
31 Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) Patients Completed NCT01213641
32 Carbohydrate Restriction and Prostate Cancer Growth Recruiting NCT01763944 Not Applicable
33 Comparing Postoperative Pain Following COX-2 and Prostanoids Expression Recruiting NCT03391570 Not Applicable COX-2 inhibitor;Placebo Oral Tablet
34 Continued Access to PREVAIL (CAP2) - WATCHMAN Left Atrial Appendage (LAA) Closure Technology Active, not recruiting NCT01760291 Not Applicable
35 Does the Cap Increase the Finding of Polyps When Water Exchange Colonoscopy is Used Not yet recruiting NCT03566615 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, Eye, Prostate, Monocytes

Publications for Muckle-Wells Syndrome

Articles related to Muckle-Wells Syndrome:

(show top 50) (show all 76)
# 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
Muckle-Wells syndrome: clinical perspectives. ( 28744167 )
2017
4
A Novel Mutation in the Pyrin Domain of the NOD-like Receptor Family Pyrin Domain Containing Protein 3 in Muckle-Wells Syndrome. ( 28229991 )
2017
5
Muckle-Wells syndrome in the setting of basal cell nevus syndrome. ( 28686751 )
2017
6
Periodic fever: From Still's disease to Muckle-Wells syndrome. ( 28583784 )
2017
7
A Case of Amyloidosis Caused by Sporadic Muckle-Wells Syndrome: Response to Treatment With Anakinra. ( 29239931 )
2017
8
Placental Transfer of Canakinumab in a Patient with Muckle-Wells Syndrome. ( 28386702 )
2017
9
Endometriosis in the setting of Muckle-Wells syndrome treated with an IL-1I^ antagonist. ( 28508753 )
2017
10
Muckle-Wells Syndrome: A Case Report with an NLRP3 T348M Mutation. ( 27435956 )
2016
11
Muckle-Wells syndrome in Chinese patients: a single center case series. ( 28028683 )
2016
12
Budget Impact Analysis of Canacinumab In The Treatment of Patients With Muckle-Wells Syndrome In The Russian Federation. ( 26533715 )
2015
13
Early detection of sensorineural hearing loss in Muckle-Wells-syndrome. ( 26531310 )
2015
14
Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation. ( 25766347 )
2015
15
Muckle-Wells syndrome: a rare hereditary cryopyrin-associated periodic syndrome. ( 26218404 )
2015
16
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
17
Muckle wells syndrome associated with multifocal clinically isolated syndrome. ( 24618190 )
2014
18
Hearing loss in Muckle-Wells syndrome. ( 23440695 )
2013
19
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes. ( 24326009 )
2013
20
Chronic keratitis with intrastromal epithelioid histiocytes: a new finding in Muckle-Wells syndrome. ( 23187166 )
2013
21
Treatment of Muckle-Wells syndrome: analysis of two IL-1-blocking regimens. ( 23718630 )
2013
22
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
23
Muckle-Wells syndrome: individualized, reflare-guided dosing of the orphan drug canakinumab. ( 23745225 )
2013
24
Muckle-Wells syndrome: a treatable cause of congenital sensorineural hearing loss. ( 23909124 )
2013
25
Renal and thyroid amyloidosis secondary tocryopyrin-associated periodic syndrome(Muckle-Wells syndrome) (NLRP3 mutation). ( 23511763 )
2013
26
Challenges in diagnosing Muckle-Wells syndrome: Identifying two distinct phenotypes. ( 24127202 )
2013
27
Muckle-Wells syndrome and male hypofertility: a case series. ( 22512814 )
2012
28
Progressive familial hearing loss in Muckle-Wells syndrome. ( 22497426 )
2012
29
Successful renal transplantation in Muckle-Wells syndrome treated with anti-IL-1I^-monoclonal antibody. ( 25984207 )
2011
30
Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome. ( 21360513 )
2011
31
NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment. ( 22146561 )
2011
32
An unusual phenotype in Muckle-Wells syndrome associated with NLRP3 E311K. ( 20819795 )
2011
33
Muckle-Wells syndrome effectively treated with canakinumab: is the recommended dosing schedule mandatory? ( 21967869 )
2011
34
Audiometric characteristics of a Dutch family with Muckle-Wells syndrome. ( 21810457 )
2011
35
Risk factors for severe Muckle-Wells syndrome. ( 20722029 )
2010
36
Muckle-Wells syndrome/neonatal-onset multisystem inflammatory disease overlap associated with myelodysplasia and cerebrovascular accident. ( 20456407 )
2010
37
[Improvement of sensoneurinal hearing loss in a patient with Muckle-Wells syndrome treated with anakinra]. ( 20135584 )
2010
38
Four cases of Muckle-Wells syndrome within the same family. ( 21308320 )
2010
39
Brain multiple sclerosis-like lesions in a patient with Muckle-Wells syndrome. ( 19828598 )
2009
40
H syndrome and Muckle-Wells syndrome. ( 19615552 )
2009
41
Hyperpigmented, hypertrichotic, and sclerodermoid plaques: an unusual variant of Muckle-Wells syndrome. ( 19664849 )
2009
42
Quiz page. Muckle Wells syndrome. ( 18971008 )
2008
43
Anakinra improves sensory deafness in a Japanese patient with Muckle-Wells syndrome, possibly by inhibiting the cryopyrin inflammasome. ( 18311804 )
2008
44
Muckle-Wells syndrome: another cause of acute anterior uveitis. ( 17277755 )
2007
45
A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra. ( 17486372 )
2007
46
Diagnosis of Muckle-Wells syndrome - 33 years later. ( 18061973 )
2007
47
Lasting remission of a Muckle-Wells syndrome with CIAS-1 mutation using half-dose anakinra. ( 17892965 )
2007
48
[Biological and clinical aspects of Muckle-Wells syndrome]. ( 17473514 )
2007
49
A case of Muckle-Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin). ( 18084703 )
2007
50
Recovery from deafness in a patient with Muckle-Wells syndrome treated with anakinra. ( 16646042 )
2006

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 106)
# Gene Variation Type Significance SNP ID Assembly Location
1 NLRP3 NM_001243133.1(NLRP3): c.1055C> T (p.Ala352Val) single nucleotide variant Pathogenic rs121908149 GRCh37 Chromosome 1, 247587806: 247587806
2 NLRP3 NM_001243133.1(NLRP3): c.1055C> T (p.Ala352Val) single nucleotide variant Pathogenic rs121908149 GRCh38 Chromosome 1, 247424504: 247424504
3 NLRP3 NM_001243133.1(NLRP3): c.778C> T (p.Arg260Trp) single nucleotide variant Pathogenic rs121908150 GRCh37 Chromosome 1, 247587529: 247587529
4 NLRP3 NM_001243133.1(NLRP3): c.778C> T (p.Arg260Trp) single nucleotide variant Pathogenic rs121908150 GRCh38 Chromosome 1, 247424227: 247424227
5 NLRP3 NM_001243133.1(NLRP3): c.1705G> C (p.Gly569Arg) single nucleotide variant Pathogenic rs121908151 GRCh37 Chromosome 1, 247588456: 247588456
6 NLRP3 NM_001243133.1(NLRP3): c.1705G> C (p.Gly569Arg) single nucleotide variant Pathogenic rs121908151 GRCh38 Chromosome 1, 247425154: 247425154
7 NLRP3 NM_001243133.1(NLRP3): c.907G> A (p.Asp303Asn) single nucleotide variant Pathogenic rs121908153 GRCh37 Chromosome 1, 247587658: 247587658
8 NLRP3 NM_001243133.1(NLRP3): c.907G> A (p.Asp303Asn) single nucleotide variant Pathogenic rs121908153 GRCh38 Chromosome 1, 247424356: 247424356
9 NLRP3 NM_001243133.1(NLRP3): c.1043C> T (p.Thr348Met) single nucleotide variant Pathogenic rs151344629 GRCh37 Chromosome 1, 247587794: 247587794
10 NLRP3 NM_001243133.1(NLRP3): c.1043C> T (p.Thr348Met) single nucleotide variant Pathogenic rs151344629 GRCh38 Chromosome 1, 247424492: 247424492
11 NLRP3 NM_004895.4(NLRP3): c.749A> G (p.Gln250Arg) single nucleotide variant Uncertain significance rs876660971 GRCh38 Chromosome 1, 247424192: 247424192
12 NLRP3 NM_004895.4(NLRP3): c.749A> G (p.Gln250Arg) single nucleotide variant Uncertain significance rs876660971 GRCh37 Chromosome 1, 247587494: 247587494
13 NLRP3 NM_004895.4(NLRP3): c.2182A> G (p.Ser728Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs147946775 GRCh37 Chromosome 1, 247592912: 247592912
14 NLRP3 NM_004895.4(NLRP3): c.2182A> G (p.Ser728Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs147946775 GRCh38 Chromosome 1, 247429610: 247429610
15 NLRP3 NM_004895.4(NLRP3): c.2767A> G (p.Thr923Ala) single nucleotide variant Uncertain significance rs200089542 GRCh38 Chromosome 1, 247444069: 247444069
16 NLRP3 NM_004895.4(NLRP3): c.2767A> G (p.Thr923Ala) single nucleotide variant Uncertain significance rs200089542 GRCh37 Chromosome 1, 247607371: 247607371
17 NLRP3 NM_004895.4(NLRP3): c.2861C> T (p.Thr954Met) single nucleotide variant Conflicting interpretations of pathogenicity rs139814109 GRCh37 Chromosome 1, 247607973: 247607973
18 NLRP3 NM_004895.4(NLRP3): c.2861C> T (p.Thr954Met) single nucleotide variant Conflicting interpretations of pathogenicity rs139814109 GRCh38 Chromosome 1, 247444671: 247444671
19 NLRP3 NM_004895.4(NLRP3): c.214G> A (p.Val72Met) single nucleotide variant Benign/Likely benign rs117287351 GRCh38 Chromosome 1, 247419008: 247419008
20 NLRP3 NM_004895.4(NLRP3): c.214G> A (p.Val72Met) single nucleotide variant Benign/Likely benign rs117287351 GRCh37 Chromosome 1, 247582310: 247582310
21 NLRP3 NM_004895.4(NLRP3): c.663C> T (p.Thr221=) single nucleotide variant Benign rs7525979 GRCh37 Chromosome 1, 247587408: 247587408
22 NLRP3 NM_004895.4(NLRP3): c.663C> T (p.Thr221=) single nucleotide variant Benign rs7525979 GRCh38 Chromosome 1, 247424106: 247424106
23 NLRP3 NM_004895.4(NLRP3): c.1308C> T (p.Ser436=) single nucleotide variant Benign rs34298354 GRCh37 Chromosome 1, 247588053: 247588053
24 NLRP3 NM_004895.4(NLRP3): c.1308C> T (p.Ser436=) single nucleotide variant Benign rs34298354 GRCh38 Chromosome 1, 247424751: 247424751
25 NLRP3 NM_004895.4(NLRP3): c.2113C> A (p.Gln705Lys) single nucleotide variant Benign rs35829419 GRCh37 Chromosome 1, 247588858: 247588858
26 NLRP3 NM_004895.4(NLRP3): c.2113C> A (p.Gln705Lys) single nucleotide variant Benign rs35829419 GRCh38 Chromosome 1, 247425556: 247425556
27 NLRP3 NM_004895.4(NLRP3): c.-704C> T single nucleotide variant Likely benign rs199723383 GRCh38 Chromosome 1, 247418091: 247418091
28 NLRP3 NM_004895.4(NLRP3): c.-704C> T single nucleotide variant Likely benign rs199723383 GRCh37 Chromosome 1, 247581393: 247581393
29 NLRP3 NM_004895.4(NLRP3): c.-623C> T single nucleotide variant Uncertain significance rs200090360 GRCh37 Chromosome 1, 247581474: 247581474
30 NLRP3 NM_004895.4(NLRP3): c.-623C> T single nucleotide variant Uncertain significance rs200090360 GRCh38 Chromosome 1, 247418172: 247418172
31 NLRP3 NM_004895.4(NLRP3): c.-62C> T single nucleotide variant Uncertain significance rs201758466 GRCh38 Chromosome 1, 247418733: 247418733
32 NLRP3 NM_004895.4(NLRP3): c.-62C> T single nucleotide variant Uncertain significance rs201758466 GRCh37 Chromosome 1, 247582035: 247582035
33 NLRP3 NM_004895.4(NLRP3): c.-34G> T single nucleotide variant Benign rs73136263 GRCh38 Chromosome 1, 247418761: 247418761
34 NLRP3 NM_004895.4(NLRP3): c.-34G> T single nucleotide variant Benign rs73136263 GRCh37 Chromosome 1, 247582063: 247582063
35 NLRP3 NM_004895.4(NLRP3): c.1251C> T (p.Ile417=) single nucleotide variant Likely benign rs139852370 GRCh38 Chromosome 1, 247424694: 247424694
36 NLRP3 NM_004895.4(NLRP3): c.1251C> T (p.Ile417=) single nucleotide variant Likely benign rs139852370 GRCh37 Chromosome 1, 247587996: 247587996
37 NLRP3 NM_004895.4(NLRP3): c.2220C> T (p.Ser740=) single nucleotide variant Likely benign rs183128734 GRCh38 Chromosome 1, 247429648: 247429648
38 NLRP3 NM_004895.4(NLRP3): c.2220C> T (p.Ser740=) single nucleotide variant Likely benign rs183128734 GRCh37 Chromosome 1, 247592950: 247592950
39 NLRP3 NM_004895.4(NLRP3): c.2307C> G (p.Gly769=) single nucleotide variant Likely benign rs150229101 GRCh38 Chromosome 1, 247429735: 247429735
40 NLRP3 NM_004895.4(NLRP3): c.2307C> G (p.Gly769=) single nucleotide variant Likely benign rs150229101 GRCh37 Chromosome 1, 247593037: 247593037
41 NLRP3 NM_004895.4(NLRP3): c.2430C> T (p.Leu810=) single nucleotide variant Likely benign rs147154764 GRCh38 Chromosome 1, 247434205: 247434205
42 NLRP3 NM_004895.4(NLRP3): c.2430C> T (p.Leu810=) single nucleotide variant Likely benign rs147154764 GRCh37 Chromosome 1, 247597507: 247597507
43 NLRP3 NM_004895.4(NLRP3): c.*230G> C single nucleotide variant Benign rs10754558 GRCh38 Chromosome 1, 247448734: 247448734
44 NLRP3 NM_004895.4(NLRP3): c.*230G> C single nucleotide variant Benign rs10754558 GRCh37 Chromosome 1, 247612036: 247612036
45 NLRP3 NM_004895.4(NLRP3): c.-527C> G single nucleotide variant Uncertain significance rs141994679 GRCh37 Chromosome 1, 247581570: 247581570
46 NLRP3 NM_004895.4(NLRP3): c.-527C> G single nucleotide variant Uncertain significance rs141994679 GRCh38 Chromosome 1, 247418268: 247418268
47 NLRP3 NM_004895.4(NLRP3): c.-527C> T single nucleotide variant Likely benign rs141994679 GRCh37 Chromosome 1, 247581570: 247581570
48 NLRP3 NM_004895.4(NLRP3): c.-527C> T single nucleotide variant Likely benign rs141994679 GRCh38 Chromosome 1, 247418268: 247418268
49 NLRP3 NM_004895.4(NLRP3): c.-405T> C single nucleotide variant Benign rs7523422 GRCh37 Chromosome 1, 247581692: 247581692
50 NLRP3 NM_004895.4(NLRP3): c.-405T> C single nucleotide variant Benign rs7523422 GRCh38 Chromosome 1, 247418390: 247418390

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
13.63 CASP1 CRP IL1B IL1R1 MEFV NLRP3
2
Show member pathways
12.99 CASP1 IL1B IL1R1 TNFRSF1A
3
Show member pathways
12.62 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
12.38 IL1B IL1R1 TNFRSF1A
8
Show member pathways
12.07 CASP1 IL1B IL1R1
9
Show member pathways
11.99 CASP1 IL1B IL1R1 TNFRSF1A
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
11.8 CASP1 IL1B NLRP3 TNFRSF1A
14
Show member pathways
11.77 CASP1 IL1B IL1R1 TNFRSF1A
15
Show member pathways
11.75 CASP1 MEFV NLRP3
16 11.63 IL1B IL1R1 TNFRSF1A
17 11.46 CASP1 IL1B NLRP3
18
Show member pathways
11.42 IL1B TNFRSF1A
19 11.35 CASP1 IL1B
20 11.33 IL1R1 TNFRSF1A
21
Show member pathways
11.22 IL1B IL1R1
22 11.19 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 9.43 CASP1 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 9.97 CASP1 IL1B IL1R1 NLRP3 TNFRSF1A
2 apoptotic process GO:0006915 9.8 CASP1 IL1B NLRP3 TNFRSF1A
3 response to lipopolysaccharide GO:0032496 9.65 CASP1 IL1B TNFRSF1A
4 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.61 CASP1 IL1B TNFRSF1A
5 negative regulation of inflammatory response GO:0050728 9.58 MEFV NLRP3 TNFRSF1A
6 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.56 CASP1 NLRP3
7 cellular response to organic substance GO:0071310 9.55 CASP1 IL1B
8 response to bacterium GO:0009617 9.54 CASP1 NLRP3
9 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.52 IL1B NLRP3
10 positive regulation of interleukin-1 beta secretion GO:0050718 9.51 CASP1 NLRP3
11 regulation of inflammatory response GO:0050727 9.5 CASP1 IL1R1 NLRP3
12 response to ATP GO:0033198 9.46 CASP1 IL1B
13 cytokine-mediated signaling pathway GO:0019221 9.46 CASP1 IL1B IL1R1 TNFRSF1A
14 cellular response to mechanical stimulus GO:0071260 9.43 CASP1 IL1B TNFRSF1A
15 regulation of establishment of endothelial barrier GO:1903140 9.37 IL1B TNFRSF1A
16 inflammatory response GO:0006954 9.35 CRP IL1B MEFV NLRP3 TNFRSF1A
17 interleukin-1 beta production GO:0032611 8.8 CASP1 IL1B NLRP3

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 9.02 CASP1 CRP MEFV NLRP3 TNFRSF1A

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
46 MGI
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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