MCID: MCK007
MIFTS: 64

Muckle-Wells Syndrome

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

Aliases & Classifications for Muckle-Wells Syndrome

MalaCards integrated aliases for Muckle-Wells Syndrome:

Name: Muckle-Wells Syndrome 53 12 49 24 55 71 13 51 14 69
Urticaria-Deafness-Amyloidosis Syndrome 53 49 24 71
Uda Syndrome 53 49 24 71
Mws 53 24 71
Familial Amyloid Nephropathy with Urticaria and Deafness 24 28
Neutrophilic Urticaria 55 69
Cryopyrin-Associated Periodic Syndrome 2; Caps2 53
Cryopyrin-Associated Periodic Syndrome 2 53
Urticaria, Deafness and Amyloidosis 49
Urticaria-Deafness-Amyloidosis 72
Muckle Wells Syndrome 49
Caps2 53

Characteristics:

Orphanet epidemiological data:

55
muckle-wells syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy,Neonatal; Age of death: adult,elderly;

OMIM:

53
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:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Muckle-Wells Syndrome

NIH Rare Diseases : 49 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. Last updated: 4/7/2014

MalaCards based summary : Muckle-Wells Syndrome, also known as urticaria-deafness-amyloidosis syndrome, is related to cryopyrin-associated periodic syndrome and amyloidosis, and has symptoms including arthralgia, myalgia and fever. 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 Antidepressive Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and neutrophil, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

OMIM : 53 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 : 71 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 : 24 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 : 72 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 110)
# Related Disease Score Top Affiliating Genes
1 cryopyrin-associated periodic syndrome 31.6 CRP IL1R1 NLRP3
2 amyloidosis 30.4 MEFV NLRP3 TNFRSF1A
3 cold urticaria 30.2 IL1R1 NLRP3
4 familial cold autoinflammatory syndrome 1 29.9 CASP1 IL1B IL1R1 MEFV NLRP3 TNFRSF1A
5 familial cold autoinflammatory syndrome 29.2 CASP1 IL1B IL1R1 NLRP3
6 wells syndrome 29.2 CRP IL1B IL1R1 MEFV NLRP3 TNFRSF1A
7 mowat-wilson syndrome 11.9
8 marden-walker syndrome 11.8
9 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
10 mevalonic aciduria 10.3 IL1B NLRP3
11 psoriatic juvenile idiopathic arthritis 10.3 MEFV NLRP3
12 erysipeloid 10.3 MEFV NLRP3
13 systemic onset juvenile idiopathic arthritis 10.3 IL1B MEFV
14 pyoderma gangrenosum 10.3 MEFV NLRP3
15 hydrarthrosis 10.2 IL1B MEFV
16 short-rib thoracic dysplasia 5 with or without polydactyly 10.2 NLRP3 TNFRSF1A
17 inflammatory myopathy with abundant macrophages 10.2 MEFV TNFRSF1A
18 intermittent hydrarthrosis 10.2 MEFV TNFRSF1A
19 silicosis 10.2 IL1B NLRP3
20 idiopathic recurrent pericarditis 10.2 MEFV TNFRSF1A
21 sensorineural hearing loss 10.2
22 urticaria 10.2
23 pneumoconiosis 10.2 IL1B NLRP3
24 papilledema 10.2 IL1R1 NLRP3
25 salmonellosis 10.1 CASP1 IL1B
26 branchiootic syndrome 1 10.1
27 joint disorders 10.1 IL1B IL1R1
28 amyloidosis, familial visceral 10.1 MEFV TNFRSF1A
29 pyoderma 10.1 IL1R1 MEFV
30 cervical adenitis 10.0 IL1B MEFV NLRP3
31 post-transplant lymphoproliferative disease 10.0 IL1R1 TNFRSF1A
32 blau syndrome 10.0 IL1B MEFV NLRP3
33 aphthous stomatitis 10.0 IL1B MEFV NLRP3
34 chronic meningitis 10.0 CRP NLRP3
35 osteomyelitis 10.0 CASP1 IL1B
36 uremic pruritus 10.0 CRP IL1B
37 suppurative otitis media 10.0 CRP IL1B
38 tinea favosa 10.0 CASP1 IL1B NLRP3
39 central nervous system vasculitis 10.0 CRP IL1B
40 chronic recurrent multifocal osteomyelitis 10.0 CASP1 IL1B NLRP3
41 skeletal tuberculosis 10.0 CRP NLRP3
42 scrub typhus 10.0 CRP IL1B
43 basal cell nevus syndrome 10.0
44 multiple sclerosis 10.0
45 keratitis, hereditary 10.0
46 cystinuria 10.0
47 goiter 10.0
48 uveitis 10.0
49 ichthyosis 10.0
50 endometriosis 10.0

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:

53
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

Human phenotypes related to Muckle-Wells Syndrome:

55 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002829
2 myalgia 55 31 occasional (7.5%) Occasional (29-5%) HP:0003326
3 fever 55 31 occasional (7.5%) Occasional (29-5%) HP:0001945
4 abdominal pain 55 31 frequent (33%) Frequent (79-30%) HP:0002027
5 macrocephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000256
6 arthritis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001369
7 splenomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001744
8 hepatomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0002240
9 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
10 short stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0004322
11 ichthyosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0008064
12 nephropathy 55 31 frequent (33%) Frequent (79-30%) HP:0000112
13 delayed puberty 55 31 occasional (7.5%) Occasional (29-5%) HP:0000823
14 cranial nerve paralysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0006824
15 anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001903
16 pes cavus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001761
17 nephrotic syndrome 55 31 frequent (33%) Frequent (79-30%) HP:0000100
18 hernia of the abdominal wall 55 31 occasional (7.5%) Occasional (29-5%) HP:0004299
19 glaucoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000501
20 abnormality of the voice 55 31 occasional (7.5%) Occasional (29-5%) HP:0001608
21 conjunctivitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000509
22 skin rash 55 31 hallmark (90%) Very frequent (99-80%) HP:0000988
23 urticaria 55 31 frequent (33%) Frequent (79-30%) HP:0001025
24 vasculitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002633
25 abnormality of the palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000174
26 abnormality of the genital system 55 31 occasional (7.5%) Occasional (29-5%) HP:0000078
27 camptodactyly of finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0100490
28 abnormality of the nose 55 31 occasional (7.5%) Occasional (29-5%) HP:0000366
29 uveitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000554
30 broad foot 55 31 hallmark (90%) Very frequent (99-80%) HP:0001769
31 recurrent aphthous stomatitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0011107
32 episcleritis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100534
33 elevated erythrocyte sedimentation rate 55 31 frequent (33%) Frequent (79-30%) HP:0003565
34 progressive sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000408
35 renal amyloidosis 55 31 frequent (33%) Frequent (79-30%) HP:0001917
36 hearing impairment 31 HP:0000365
37 renal insufficiency 31 HP:0000083
38 abnormality of metabolism/homeostasis 55 Frequent (79-30%)
39 leukocytosis 31 HP:0001974
40 abnormality of the skin 31 HP:0000951
41 restrictive lung disease 55 Occasional (29-5%)
42 episodic fever 31 HP:0001954
43 restrictive ventilatory defect 31 occasional (7.5%) HP:0002091

UMLS symptoms related to Muckle-Wells Syndrome:


lower extremity pain

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.23 CASP1 IL1B NLRP3 TNFRSF1A
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.23 CASP1 IL1B NLRP3 TNFRSF1A

MGI Mouse Phenotypes related to Muckle-Wells Syndrome:

43
# 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 IL1R1 MEFV NLRP3 CASP1 TNFRSF1A IL1B
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 134)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Paroxetine Approved, Investigational Phase 4,Phase 3 61869-08-7 43815
2 Antidepressive Agents Phase 4,Phase 3,Phase 1
3 Antidepressive Agents, Second-Generation Phase 4,Phase 3,Phase 1
4 Cytochrome P-450 CYP2D6 Inhibitors Phase 4,Phase 3,Phase 1
5 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3,Phase 1
6 Neurotransmitter Agents Phase 4,Phase 3,Phase 1
7 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3,Phase 1
8 Psychotropic Drugs Phase 4,Phase 3,Phase 1
9
Serotonin Phase 4,Phase 3 50-67-9 5202
10 Serotonin Agents Phase 4,Phase 3
11 Serotonin Uptake Inhibitors Phase 4,Phase 3
12
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
13
Warfarin Approved Phase 3 81-81-2 54678486 6691
14
Dopamine Approved Phase 3,Phase 1 51-61-6, 62-31-7 681
15 Brexpiprazole Approved, Investigational Phase 3 913611-97-9 11978813
16
Sertraline Approved Phase 3 79617-96-2 68617
17 tannic acid Approved, Nutraceutical Phase 3
18 Anticoagulants Phase 3
19 Antibodies Phase 3,Phase 2
20 Antibodies, Monoclonal Phase 3,Phase 2
21 Immunoglobulins Phase 3,Phase 2
22 Vaccines Phase 3
23 Antipsychotic Agents Phase 3
24 Central Nervous System Depressants Phase 3,Phase 1
25 Quetiapine Fumarate Phase 3 111974-72-2
26 Tranquilizing Agents Phase 3,Phase 1
27 Dopamine Agents Phase 3,Phase 1
28 Dopamine agonists Phase 3
29
Coal tar Approved Phase 2 8007-45-2
30
Mifepristone Approved, Investigational Phase 2 84371-65-3 55245
31
Budesonide Approved Phase 2 51333-22-3 5281004 63006
32
Asparaginase Approved, Investigational Phase 2 9015-68-3
33
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
34
Cytarabine Approved, Investigational Phase 2 147-94-4 6253
35
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
36
Daunorubicin Approved Phase 2 20830-81-3 30323
37
Etoposide Approved Phase 2 33419-42-0 36462
38
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 657311 5754
39
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
40
Pegaspargase Approved, Investigational Phase 2 130167-69-0
41
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
42
rituximab Approved Phase 2 174722-31-7 10201696
43
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
44
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
45
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
46
Butyric Acid Experimental, Investigational Phase 2 107-92-6 264
47 Contraceptive Agents Phase 2
48 Contraceptives, Oral Phase 2
49 Contraceptives, Postcoital Phase 2
50 Hormone Antagonists Phase 2

Interventional clinical trials:

(show all 32)

# Name Status NCT ID Phase Drugs
1 Paroxetine Treatment in Outpatients With Comorbid PTSD and Substance Dependence Completed NCT00330239 Phase 4 Paroxetine CR
2 Evaluation of the WATCHMAN LAA Closure Device in Patients With Atrial Fibrillation Versus Long Term Warfarin Therapy Unknown status NCT01182441 Phase 3 Warfarin
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 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)
11 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
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 Recruiting NCT02043587 Phase 2 DNR;VCR;PEG-asp;CTX;Prednisone;Liposomal AraC;MTX;LCV;AraC;Etoposide;Dasatinib;Rituximab;Hydrocortisone
19 HL2351 CAPS Phase II Study Terminated NCT02853084 Phase 2 HL2351
20 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
21 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
22 Cocktail Approach for Cytochrome P450 and P-glycoprotein Activity Assessment Using Dried Blood Spot Completed NCT01731067 Phase 1 Cocktail probe drugs
23 Bright Light: An Adjunct Treatment for Combat Posttraumatic Stress Disorder (PTSD) Active, not recruiting NCT00701064 Phase 1
24 Study of Eye Movement Desensitization and Reprocessing (EMDR) Working Mechanism Unknown status NCT01209377
25 A Study of Nutritional Supplementation in Altering Ecchymosis, Erythema and Health Outcomes Associated With Aesthetic Procedures Unknown status NCT01919359
26 The CAP-2 Trial: Effect of Direct Pulp Capping Versus Partial Pulpotomy Completed NCT00187850
27 Novel Treatment of Emotional Dysfunction in Post Traumatic Stress Disorder (PTSD) Completed NCT01391832
28 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Factors Completed NCT00933296
29 Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) Patients Completed NCT01213641
30 Carbohydrate Restriction and Prostate Cancer Growth Recruiting NCT01763944
31 Comparing Postoperative Pain Following COX-2 and Prostanoids Expression Recruiting NCT03391570 COX-2 inhibitor;Placebo Oral Tablet
32 Continued Access to PREVAIL (CAP2) - WATCHMAN Left Atrial Appendage (LAA) Closure Technology Active, not recruiting NCT01760291

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 28 NLRP3

Anatomical Context for Muckle-Wells Syndrome

MalaCards organs/tissues related to Muckle-Wells Syndrome:

38
Skin, Kidney, Neutrophil, Lung, Bone, Eye, Prostate

Publications for Muckle-Wells Syndrome

Articles related to Muckle-Wells Syndrome:

(show top 50) (show all 75)
# Title Authors Year
1
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
2
A Novel Mutation in the Pyrin Domain of the NOD-like Receptor Family Pyrin Domain Containing Protein 3 in Muckle-Wells Syndrome. ( 28229991 )
2017
3
Periodic fever: From Still's disease to Muckle-Wells syndrome. ( 28583784 )
2017
4
Muckle-Wells syndrome: clinical perspectives. ( 28744167 )
2017
5
Placental Transfer of Canakinumab in a Patient with Muckle-Wells Syndrome. ( 28386702 )
2017
6
Muckle-Wells syndrome in the setting of basal cell nevus syndrome. ( 28686751 )
2017
7
A Case of Amyloidosis Caused by Sporadic Muckle-Wells Syndrome: Response to Treatment With Anakinra. ( 29239931 )
2017
8
Endometriosis in the setting of Muckle-Wells syndrome treated with an IL-1I^ antagonist. ( 28508753 )
2017
9
Muckle-Wells Syndrome: A Case Report with an NLRP3 T348M Mutation. ( 27435956 )
2016
10
Muckle-Wells syndrome in Chinese patients: a single center case series. ( 28028683 )
2016
11
Early detection of sensorineural hearing loss in Muckle-Wells-syndrome. ( 26531310 )
2015
12
Muckle-Wells syndrome: a rare hereditary cryopyrin-associated periodic syndrome. ( 26218404 )
2015
13
Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation. ( 25766347 )
2015
14
Budget Impact Analysis of Canacinumab In The Treatment of Patients With Muckle-Wells Syndrome In The Russian Federation. ( 26533715 )
2015
15
Muckle wells syndrome associated with multifocal clinically isolated syndrome. ( 24618190 )
2014
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
Hearing loss in Muckle-Wells syndrome. ( 23440695 )
2013
18
Renal and thyroid amyloidosis secondary tocryopyrin-associated periodic syndrome(Muckle-Wells syndrome) (NLRP3 mutation). ( 23511763 )
2013
19
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes. ( 24326009 )
2013
20
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
21
Treatment of Muckle-Wells syndrome: analysis of two IL-1-blocking regimens. ( 23718630 )
2013
22
Muckle-Wells syndrome: individualized, reflare-guided dosing of the orphan drug canakinumab. ( 23745225 )
2013
23
Muckle-Wells syndrome: a treatable cause of congenital sensorineural hearing loss. ( 23909124 )
2013
24
Challenges in diagnosing Muckle-Wells syndrome: Identifying two distinct phenotypes. ( 24127202 )
2013
25
Chronic keratitis with intrastromal epithelioid histiocytes: a new finding in Muckle-Wells syndrome. ( 23187166 )
2013
26
Muckle-Wells syndrome and male hypofertility: a case series. ( 22512814 )
2012
27
Progressive familial hearing loss in Muckle-Wells syndrome. ( 22497426 )
2012
28
Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome. ( 21360513 )
2011
29
NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment. ( 22146561 )
2011
30
Audiometric characteristics of a Dutch family with Muckle-Wells syndrome. ( 21810457 )
2011
31
Successful renal transplantation in Muckle-Wells syndrome treated with anti-IL-1I^-monoclonal antibody. ( 25984207 )
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
Four cases of Muckle-Wells syndrome within the same family. ( 21308320 )
2010
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
H syndrome and Muckle-Wells syndrome. ( 19615552 )
2009
39
Brain multiple sclerosis-like lesions in a patient with Muckle-Wells syndrome. ( 19828598 )
2009
40
Hyperpigmented, hypertrichotic, and sclerodermoid plaques: an unusual variant of Muckle-Wells syndrome. ( 19664849 )
2009
41
Quiz page. Muckle Wells syndrome. ( 18971008 )
2008
42
Anakinra improves sensory deafness in a Japanese patient with Muckle-Wells syndrome, possibly by inhibiting the cryopyrin inflammasome. ( 18311804 )
2008
43
Lasting remission of a Muckle-Wells syndrome with CIAS-1 mutation using half-dose anakinra. ( 17892965 )
2007
44
Diagnosis of Muckle-Wells syndrome - 33 years later. ( 18061973 )
2007
45
Muckle-Wells syndrome: another cause of acute anterior uveitis. ( 17277755 )
2007
46
A case of Muckle-Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin). ( 18084703 )
2007
47
A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra. ( 17486372 )
2007
48
[Biological and clinical aspects of Muckle-Wells syndrome]. ( 17473514 )
2007
49
Muckle-Wells syndrome: report of six cases with hyperpigmented sclerodermoid skin lesions. ( 16533222 )
2006
50
[Muckle-Wells syndrome: a rare periodic fever syndrome]. ( 16901068 )
2006

Variations for Muckle-Wells Syndrome

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

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 NLRP3 NM_001243133.1(NLRP3): c.1043C> T (p.Thr348Met) single nucleotide variant Pathogenic rs151344629 GRCh37 Chromosome 1, 247587794: 247587794
2 NLRP3 NM_001243133.1(NLRP3): c.1055C> T (p.Ala352Val) single nucleotide variant Pathogenic rs121908149 GRCh37 Chromosome 1, 247587806: 247587806
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.1705G> C (p.Gly569Arg) single nucleotide variant Pathogenic rs121908151 GRCh37 Chromosome 1, 247588456: 247588456
5 NLRP3 NM_001243133.1(NLRP3): c.907G> A (p.Asp303Asn) single nucleotide variant Pathogenic rs121908153 GRCh37 Chromosome 1, 247587658: 247587658

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 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 CASP1 CRP IL1B IL1R1 MEFV NLRP3
2
Show member pathways
12.99 CASP1 IL1B IL1R1 TNFRSF1A
3
Show member pathways
12.54 CASP1 IL1B IL1R1 MEFV NLRP3
4
Show member pathways
12.53 CASP1 IL1B NLRP3 TNFRSF1A
5 12.47 CASP1 IL1B IL1R1 TNFRSF1A
6
Show member pathways
12.41 IL1B IL1R1 TNFRSF1A
7
Show member pathways
12.38 IL1B IL1R1 TNFRSF1A
8
Show member pathways
12.33 CASP1 IL1B IL1R1 TNFRSF1A
9
Show member pathways
12.05 CASP1 IL1B IL1R1
10 11.87 IL1B IL1R1 TNFRSF1A
11 11.81 IL1B IL1R1 TNFRSF1A
12
Show member pathways
11.71 CASP1 MEFV NLRP3
13
Show member pathways
11.7 CASP1 IL1B NLRP3 TNFRSF1A
14
Show member pathways
11.59 CASP1 IL1B
15 11.59 IL1B IL1R1 TNFRSF1A
16 11.43 CASP1 IL1B NLRP3
17
Show member pathways
11.41 IL1B TNFRSF1A
18 11.34 CASP1 IL1B
19 11.32 IL1R1 TNFRSF1A
20
Show member pathways
11.22 IL1B IL1R1
21 11.12 IL1B IL1R1 TNFRSF1A
22 10.9 CASP1 IL1B
23 10.54 CASP1 IL1B MEFV NLRP3
24 10.53 IL1B IL1R1 NLRP3
25 10.25 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 15)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.95 CASP1 IL1B IL1R1 NLRP3 TNFRSF1A
2 apoptotic process GO:0006915 9.81 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 cytokine-mediated signaling pathway GO:0019221 9.58 IL1B IL1R1 TNFRSF1A
6 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.54 CASP1 NLRP3
7 negative regulation of inflammatory response GO:0050728 9.54 MEFV NLRP3 TNFRSF1A
8 cellular response to organic substance GO:0071310 9.52 CASP1 IL1B
9 positive regulation of interleukin-1 beta secretion GO:0050718 9.49 CASP1 NLRP3
10 response to ATP GO:0033198 9.46 CASP1 IL1B
11 cellular response to mechanical stimulus GO:0071260 9.43 CASP1 IL1B TNFRSF1A
12 inflammatory response GO:0006954 9.35 CRP IL1B MEFV NLRP3 TNFRSF1A
13 regulation of inflammatory response GO:0050727 9.33 CASP1 IL1R1 NLRP3
14 regulation of establishment of endothelial barrier GO:1903140 9.32 IL1B TNFRSF1A
15 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 8.92 CASP1 CRP MEFV NLRP3

Sources for Muckle-Wells Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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