MWS
MCID: MCK007
MIFTS: 61

Muckle-Wells Syndrome (MWS) malady

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

Aliases & Classifications for Muckle-Wells Syndrome

Aliases & Descriptions for Muckle-Wells Syndrome:

Name: Muckle-Wells Syndrome 54 12 50 24 25 56 66 13 52 14 69
Urticaria-Deafness-Amyloidosis Syndrome 50 24 25 66
Uda Syndrome 50 24 25 66
Familial Amyloid Nephropathy with Urticaria and Deafness 25 29
Neutrophilic Urticaria 56 69
Mws 25 66
Urticaria, Deafness and Amyloidosis 50
Muckle Wells Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
muckle-wells syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy,Neonatal; Age of death: adult,elderly;

HPO:

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


Classifications:



External Ids:

OMIM 54 191900
Disease Ontology 12 DOID:0050854
Orphanet 56 ORPHA575
UMLS via Orphanet 70 C0268390
ICD10 via Orphanet 34 E85.0
MedGen 40 C0268390
MeSH 42 D056587

Summaries for Muckle-Wells Syndrome

NIH Rare Diseases : 50 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 urticaria and marden-walker syndrome, 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, neutrophil and kidney, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and homeostasis/metabolism

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 : 54 Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset... (191900) more...

UniProtKB/Swiss-Prot : 66 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.

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 104)
id Related Disease Score Top Affiliating Genes
1 urticaria 30.2 CRP IL1B
2 marden-walker syndrome 11.6
3 mowat-wilson syndrome 11.6
4 familial cold-induced inflammatory syndrome 1 11.0
5 wells syndrome 10.8
6 amyloidosis 10.2
7 pulmonary artery coming from the aorta 10.2 MEFV NLRP3
8 porokeratosis 3, disseminated superficial actinic 10.2 IL1B NLRP3
9 invasive aspergillosis 10.2 MEFV NLRP3
10 tau syndrome 10.2 IL1B MEFV
11 chromosome 16p11.2 duplication syndrome autism, susceptibility to, 14b, included 10.2 CASP1 IL1B
12 deafness, autosomal recessive 25 10.2 NLRP3 TNFRSF1A
13 oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies 10.2 MEFV TNFRSF1A
14 spondylocostal dysostosis-hypospadias-intellectual disability syndrome 10.2 MEFV TNFRSF1A
15 candidiasis, familial, 4, autosomal recessive 10.2 MEFV TNFRSF1A
16 malignant perineurioma 10.2 MEFV TNFRSF1A
17 coloboma of optic papilla 10.1 IL1R1 NLRP3
18 kidney leiomyosarcoma 10.1 MEFV TNFRSF1A
19 prostatitis 10.1 IL1R1 NLRP3
20 isolated growth hormone deficiency 10.1 CASP1 IL1B
21 juvenile amyotrophic lateral sclerosis with dementia 10.1 CASP1 TNFRSF1A
22 skin conditions 10.1 IL1B NLRP3
23 keratoconus 10.1 IL1B IL1R1
24 histiocytoma 10.1 IL1R1 MEFV
25 natural killer cell leukemia 10.1 CRP NLRP3
26 meier-gorlin syndrome 3 10.1 IL1B MEFV NLRP3
27 gonococcal endophthalmia 10.1 IL1B MEFV NLRP3
28 senile cataract 10.1 IL1B MEFV NLRP3
29 primary ciliary dyskinesia 10.1 IL1R1 TNFRSF1A
30 cataract 10.0 CRP IL1B
31 laryngotracheoesophageal cleft type 2 10.0 CRP IL1B
32 amelanotic melanoma 10.0 CASP1 IL1B NLRP3
33 human immunodeficiency virus infectious disease 10.0 CRP IL1B
34 van maldergem syndrome 2 10.0 MEFV TNFRSF1A
35 megaloblastic anemia 10.0 CRP IL1B
36 cryopyrin-associated periodic syndrome 10.0
37 sensorineural hearing loss 10.0
38 anaplastic ganglioglioma 10.0 CRP MEFV
39 cyclotropia 10.0 CRP MEFV
40 baritosis 10.0 IL1B NLRP3
41 neuropathy 10.0 CRP IL1B
42 dermatomycosis 10.0 CRP MEFV
43 esotropia 10.0 CRP MEFV
44 immunodeficiency 9 10.0 CRP TNFRSF1A
45 generalized dystonia 10.0 CRP MEFV
46 spermatocele 10.0 CASP1 CRP
47 egg allergy 10.0 IL1B IL1R1 NLRP3
48 female breast upper-inner quadrant cancer 10.0 CRP NLRP3
49 warthin tumor 10.0 IL1B IL1R1 NLRP3
50 senile reticular retinal degeneration 10.0 IL1B IL1R1 NLRP3

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 by clinical synopsis from OMIM:

191900

Clinical features from OMIM:

191900

Human phenotypes related to Muckle-Wells Syndrome:

56 32 (show all 43)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 56 32 Very frequent (99-80%) HP:0002829
2 myalgia 56 32 Occasional (29-5%) HP:0003326
3 fever 56 32 Occasional (29-5%) HP:0001945
4 abdominal pain 56 32 Frequent (79-30%) HP:0002027
5 macrocephaly 56 32 Occasional (29-5%) HP:0000256
6 arthritis 56 32 Very frequent (99-80%) HP:0001369
7 splenomegaly 56 32 Very frequent (99-80%) HP:0001744
8 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
9 optic atrophy 56 32 Occasional (29-5%) HP:0000648
10 short stature 56 32 Occasional (29-5%) HP:0004322
11 ichthyosis 56 32 Occasional (29-5%) HP:0008064
12 nephropathy 56 32 Frequent (79-30%) HP:0000112
13 delayed puberty 56 32 Occasional (29-5%) HP:0000823
14 cranial nerve paralysis 56 32 Very frequent (99-80%) HP:0006824
15 anemia 56 32 Occasional (29-5%) HP:0001903
16 pes cavus 56 32 Occasional (29-5%) HP:0001761
17 nephrotic syndrome 56 32 Frequent (79-30%) HP:0000100
18 hernia of the abdominal wall 56 32 Occasional (29-5%) HP:0004299
19 glaucoma 56 32 Occasional (29-5%) HP:0000501
20 abnormality of the voice 56 32 Occasional (29-5%) HP:0001608
21 conjunctivitis 56 32 Very frequent (99-80%) HP:0000509
22 skin rash 56 32 Very frequent (99-80%) HP:0000988
23 urticaria 56 32 Frequent (79-30%) HP:0001025
24 vasculitis 56 32 Occasional (29-5%) HP:0002633
25 abnormality of the genital system 56 32 Occasional (29-5%) HP:0000078
26 camptodactyly of finger 56 32 Occasional (29-5%) HP:0100490
27 abnormality of the nose 56 32 Occasional (29-5%) HP:0000366
28 abnormality of the palate 56 32 Occasional (29-5%) HP:0000174
29 uveitis 56 32 Very frequent (99-80%) HP:0000554
30 broad foot 56 32 Very frequent (99-80%) HP:0001769
31 recurrent aphthous stomatitis 56 32 Occasional (29-5%) HP:0011107
32 episcleritis 56 32 Very frequent (99-80%) HP:0100534
33 elevated erythrocyte sedimentation rate 56 32 Frequent (79-30%) HP:0003565
34 progressive sensorineural hearing impairment 56 32 Very frequent (99-80%) HP:0000408
35 renal amyloidosis 56 32 Frequent (79-30%) HP:0001917
36 hearing impairment 32 HP:0000365
37 renal insufficiency 32 HP:0000083
38 abnormality of metabolism/homeostasis 56 Frequent (79-30%)
39 leukocytosis 32 HP:0001974
40 abnormality of the skin 32 HP:0000951
41 restrictive lung disease 56 Occasional (29-5%)
42 episodic fever 32 HP:0001954
43 restrictive ventilatory defect 32 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:

26
id 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:

44
id 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 IL1B IL1R1 MEFV NLRP3 TNFRSF1A CASP1
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 132)
id 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
Dopamine Approved Phase 3,Phase 1 51-61-6, 62-31-7 681
13
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
14
Warfarin Approved Phase 3 81-81-2 6691 54678486
15 Brexpiprazole Approved Phase 3 913611-97-9 11978813
16
Sertraline Approved Phase 3 79617-96-2 68617
17 tannic acid Approved, Nutraceutical Phase 3
18 Antibodies Phase 3,Phase 2
19 Antibodies, Monoclonal Phase 3,Phase 2
20 Immunoglobulins Phase 3,Phase 2
21 Vaccines Phase 3
22 Antipsychotic Agents Phase 3
23 Central Nervous System Depressants Phase 3,Phase 1
24 Quetiapine Fumarate Phase 3 111974-72-2
25 Tranquilizing Agents Phase 3,Phase 1
26 Dopamine Agents Phase 3,Phase 1
27 Anticoagulants Phase 3
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 63006 5281004
32
Asparaginase Approved 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 5754 657311
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 54575, 6560146 143
46
Butyric Acid Experimental 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 30)
id Name Status NCT ID Phase
1 Paroxetine Treatment in Outpatients With Comorbid PTSD and Substance Dependence Completed NCT00330239 Phase 4
2 Efficacy, Safety, and Tolerability of ACZ885 in Patients With Muckle-Wells Syndrome Completed NCT00465985 Phase 3
3 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
4 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
5 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
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 NCT01302860 Phase 3
7 Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS) Completed NCT00288704 Phase 3
8 Use of Quetiapine as an Add on Therapy in the Treatment of Post Traumatic Stress Disorder Completed NCT00306540 Phase 3
9 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
10 Evaluation of the WATCHMAN LAA Closure Device in Patients With Atrial Fibrillation Versus Long Term Warfarin Therapy Active, not recruiting NCT01182441 Phase 3
11 Brexpiprazole as an Adjunctive Treatment to Paroxetine or Sertraline in Adult Patients Suffering From Post-traumatic Stress Disorder (PTSD) Terminated NCT01987960 Phase 3
12 Trial of Mifepristone in Combat Veterans With Posttraumatic Stress Disorder Unknown status NCT00833339 Phase 2
13 Safety and Tolerability of Rilonacept in Muckle-Wells Syndrome (MWS) or Schnitzler Syndrome (SchS) Completed NCT01045772 Phase 2
14 Interleukin-1 Trap to Treat Autoinflammatory Diseases Completed NCT00094900 Phase 2
15 Safety, Efficacy, Pharmacokinetics, Pharmacodynamics of ACZ885 in Patients With NALP3 Mutations and Clinical Symptoms Completed NCT00487708 Phase 2
16 Safety, Tolerability and PD Activity of Inhaled TPI 1020 Versus Inhaled Budesonide in COPD Patients Completed NCT00483743 Phase 2
17 Chemotherapy With Liposomal Cytarabine CNS Prophylaxis for Adult Acute Lymphoblastic Leukemia & Lymphoblastic Lymphoma Recruiting NCT02043587 Phase 2
18 HL2351 CAPS Phase II Study Terminated NCT02853084 Phase 2
19 A Pilot Study of XOMA 052 in Familial Cold Autoinflammatory Syndrome / Muckle-Wells Syndrome and Behcet's Disease Withdrawn NCT01211977 Phase 1, Phase 2
20 Cocktail Approach for Cytochrome P450 and P-glycoprotein Activity Assessment Using Dried Blood Spot Completed NCT01731067 Phase 1
21 Evaluation of the Potential Pharmacokinetic Interactions Between Probe Drugs in the Geneva Phenotyping Cocktail Completed NCT02391688 Phase 1
22 Bright Light: An Adjunct Treatment for Combat Posttraumatic Stress Disorder (PTSD) Active, not recruiting NCT00701064 Phase 1
23 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Factors Unknown status NCT00933296
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 Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) Patients Completed NCT01213641
29 Carbohydrate Restriction and Prostate Cancer Growth Recruiting NCT01763944
30 Continued Access to PREVAIL (CAP2) 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:

id Genetic test Affiliating Genes
1 Familial Amyloid Nephropathy with Urticaria and Deafness 29
2 Muckle-Wells Syndrome 24 NLRP3

Anatomical Context for Muckle-Wells Syndrome

MalaCards organs/tissues related to Muckle-Wells Syndrome:

39
Skin, Neutrophil, Kidney, Lung, Bone, Monocytes, Brain

Publications for Muckle-Wells Syndrome

Articles related to Muckle-Wells Syndrome:

(show top 50) (show all 70)
id Title Authors Year
1
Placental Transfer of Canakinumab in a Patient with Muckle-Wells Syndrome. ( 28386702 )
2017
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
Endometriosis in the setting of Muckle-Wells syndrome treated with an IL-1I^ antagonist. ( 28508753 )
2017
4
Muckle-Wells syndrome in Chinese patients: a single center case series. ( 28028683 )
2016
5
Muckle-Wells Syndrome: A Case Report with an NLRP3 T348M Mutation. ( 27435956 )
2016
6
Budget Impact Analysis of Canacinumab In The Treatment of Patients With Muckle-Wells Syndrome In The Russian Federation. ( 26533715 )
2015
7
Muckle-Wells syndrome: a rare hereditary cryopyrin-associated periodic syndrome. ( 26218404 )
2015
8
Early detection of sensorineural hearing loss in Muckle-Wells-syndrome. ( 26531310 )
2015
9
Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation. ( 25766347 )
2015
10
Muckle wells syndrome associated with multifocal clinically isolated syndrome. ( 24618190 )
2014
11
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
12
Renal and thyroid amyloidosis secondary tocryopyrin-associated periodic syndrome(Muckle-Wells syndrome) (NLRP3 mutation). ( 23511763 )
2013
13
Muckle-Wells syndrome: a treatable cause of congenital sensorineural hearing loss. ( 23909124 )
2013
14
Hearing loss in Muckle-Wells syndrome. ( 23440695 )
2013
15
Challenges in diagnosing Muckle-Wells syndrome: Identifying two distinct phenotypes. ( 24127202 )
2013
16
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
17
Chronic keratitis with intrastromal epithelioid histiocytes: a new finding in Muckle-Wells syndrome. ( 23187166 )
2013
18
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes. ( 24326009 )
2013
19
Treatment of Muckle-Wells syndrome: analysis of two IL-1-blocking regimens. ( 23718630 )
2013
20
Muckle-Wells syndrome: individualized, reflare-guided dosing of the orphan drug canakinumab. ( 23745225 )
2013
21
Muckle-Wells syndrome and male hypofertility: a case series. ( 22512814 )
2012
22
Progressive familial hearing loss in Muckle-Wells syndrome. ( 22497426 )
2012
23
Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome. ( 21360513 )
2011
24
Muckle-Wells syndrome effectively treated with canakinumab: is the recommended dosing schedule mandatory? ( 21967869 )
2011
25
An unusual phenotype in Muckle-Wells syndrome associated with NLRP3 E311K. ( 20819795 )
2011
26
NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment. ( 22146561 )
2011
27
Audiometric characteristics of a Dutch family with Muckle-Wells syndrome. ( 21810457 )
2011
28
Successful renal transplantation in Muckle-Wells syndrome treated with anti-IL-1I^-monoclonal antibody. ( 25984207 )
2011
29
[Improvement of sensoneurinal hearing loss in a patient with Muckle-Wells syndrome treated with anakinra]. ( 20135584 )
2010
30
Muckle-Wells syndrome/neonatal-onset multisystem inflammatory disease overlap associated with myelodysplasia and cerebrovascular accident. ( 20456407 )
2010
31
Four cases of Muckle-Wells syndrome within the same family. ( 21308320 )
2010
32
Risk factors for severe Muckle-Wells syndrome. ( 20722029 )
2010
33
Brain multiple sclerosis-like lesions in a patient with Muckle-Wells syndrome. ( 19828598 )
2009
34
Hyperpigmented, hypertrichotic, and sclerodermoid plaques: an unusual variant of Muckle-Wells syndrome. ( 19664849 )
2009
35
H syndrome and Muckle-Wells syndrome. ( 19615552 )
2009
36
Anakinra improves sensory deafness in a Japanese patient with Muckle-Wells syndrome, possibly by inhibiting the cryopyrin inflammasome. ( 18311804 )
2008
37
Quiz page. Muckle Wells syndrome. ( 18971008 )
2008
38
Lasting remission of a Muckle-Wells syndrome with CIAS-1 mutation using half-dose anakinra. ( 17892965 )
2007
39
[Biological and clinical aspects of Muckle-Wells syndrome]. ( 17473514 )
2007
40
Diagnosis of Muckle-Wells syndrome - 33 years later. ( 18061973 )
2007
41
A case of Muckle-Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin). ( 18084703 )
2007
42
Muckle-Wells syndrome: another cause of acute anterior uveitis. ( 17277755 )
2007
43
A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra. ( 17486372 )
2007
44
Recovery from deafness in a patient with Muckle-Wells syndrome treated with anakinra. ( 16646042 )
2006
45
A probable case of Muckle-Wells syndrome. ( 16556280 )
2006
46
Muckle-Wells syndrome: report of six cases with hyperpigmented sclerodermoid skin lesions. ( 16533222 )
2006
47
Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonism. ( 16531551 )
2006
48
[Successful treatment of clinical manifestations of Muckle-Wells syndrome with anakinra]. ( 16915547 )
2006
49
[Muckle-Wells syndrome: a rare periodic fever syndrome]. ( 16901068 )
2006
50
Successful treatment of acute visual loss in Muckle-Wells syndrome with interleukin 1 receptor antagonist. ( 16014694 )
2005

Variations for Muckle-Wells Syndrome

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

66
id 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
id 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.778C> T (p.Arg260Trp) single nucleotide variant Pathogenic rs121908150 GRCh37 Chromosome 1, 247587529: 247587529
3 NLRP3 NM_001243133.1(NLRP3): c.1705G> C (p.Gly569Arg) single nucleotide variant Pathogenic rs121908151 GRCh37 Chromosome 1, 247588456: 247588456
4 NLRP3 NM_001243133.1(NLRP3): c.907G> A (p.Asp303Asn) single nucleotide variant Pathogenic rs121908153 GRCh37 Chromosome 1, 247587658: 247587658
5 NLRP3 NM_001243133.1(NLRP3): c.1043C> T (p.Thr348Met) single nucleotide variant Pathogenic rs151344629 GRCh37 Chromosome 1, 247587794: 247587794

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 24)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 CASP1 CRP IL1B IL1R1 MEFV NLRP3
2
Show member pathways
12.98 CASP1 IL1B IL1R1 TNFRSF1A
3
Show member pathways
12.52 CASP1 IL1B NLRP3 TNFRSF1A
4
Show member pathways
12.49 CASP1 IL1B IL1R1 MEFV NLRP3
5
Show member pathways
12.41 IL1B IL1R1 TNFRSF1A
6
Show member pathways
12.37 IL1B IL1R1 TNFRSF1A
7 12.36 CASP1 IL1B IL1R1 TNFRSF1A
8
Show member pathways
12.33 CASP1 IL1B IL1R1 TNFRSF1A
9
Show member pathways
12.04 CASP1 IL1B IL1R1
10 11.86 IL1B IL1R1 TNFRSF1A
11 11.79 IL1B IL1R1 TNFRSF1A
12
Show member pathways
11.71 CASP1 MEFV NLRP3
13
Show member pathways
11.58 CASP1 IL1B
14 11.56 IL1B IL1R1 TNFRSF1A
15
Show member pathways
11.4 IL1B TNFRSF1A
16 11.38 CASP1 IL1B NLRP3
17 11.33 CASP1 IL1B
18 11.32 IL1R1 TNFRSF1A
19
Show member pathways
11.21 IL1B IL1R1
20 11.02 IL1B IL1R1 TNFRSF1A
21 10.89 CASP1 IL1B
22 10.54 CASP1 IL1B MEFV NLRP3
23 10.53 IL1B IL1R1 NLRP3
24 10.21 CASP1 IL1B

GO Terms for Muckle-Wells Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.43 CASP1 CRP IL1B IL1R1 NLRP3 TNFRSF1A
2 NLRP3 inflammasome complex GO:0072559 8.62 CASP1 NLRP3

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.93 CASP1 IL1B IL1R1 NLRP3 TNFRSF1A
2 apoptotic process GO:0006915 9.81 CASP1 IL1B NLRP3 TNFRSF1A
3 response to lipopolysaccharide GO:0032496 9.67 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 cellular response to organic substance GO:0071310 9.52 CASP1 IL1B
7 negative regulation of inflammatory response GO:0050728 9.5 MEFV NLRP3 TNFRSF1A
8 positive regulation of interleukin-1 beta secretion GO:0050718 9.48 CASP1 NLRP3
9 response to ATP GO:0033198 9.46 CASP1 IL1B
10 cellular response to mechanical stimulus GO:0071260 9.43 CASP1 IL1B TNFRSF1A
11 regulation of establishment of endothelial barrier GO:1903140 9.37 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 interleukin-1 beta production GO:0032611 8.8 CASP1 IL1B NLRP3

Sources for Muckle-Wells Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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