MCID: MCK007
MIFTS: 63

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 54 12 50 24 25 56 71 13 52 14 69
Urticaria-Deafness-Amyloidosis Syndrome 50 24 25 71
Uda Syndrome 50 24 25 71
Familial Amyloid Nephropathy with Urticaria and Deafness 25 29
Neutrophilic Urticaria 56 69
Mws 25 71
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;

OMIM:

54
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 : 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 familial cold-induced inflammatory syndrome 1 and mowat-wilson syndrome, and has symptoms including short stature, optic atrophy and hepatomegaly. 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 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.

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)
id Related Disease Score Top Affiliating Genes
1 familial cold-induced inflammatory syndrome 1 29.2 CASP1 IL1B IL1R1 MEFV NLRP3 TNFRSF1A
2 mowat-wilson syndrome 11.8
3 marden-walker syndrome 11.6
4 cryopyrin-associated periodic syndrome 11.3
5 wells syndrome 10.8
6 ptosis coloboma mental retardation 10.5 MEFV NLRP3
7 adiaspiromycosis 10.5 MEFV NLRP3
8 tabatznik syndrome 10.5 IL1B MEFV
9 lip cancer 10.4 MEFV NLRP3
10 senior-loken syndrome 8 10.4 NLRP3 TNFRSF1A
11 acute neonatal citrullinemia type i 10.4 MEFV TNFRSF1A
12 acute megakaryoblastic leukemia without down syndrome 10.4 MEFV TNFRSF1A
13 sinusitis 10.3 IL1B NLRP3
14 leigh syndrome with leukodystrophy 10.3 MEFV TNFRSF1A
15 collagenous gastritis 10.3 IL1R1 NLRP3
16 prostatitis 10.3 IL1R1 NLRP3
17 asbestosis 10.3 IL1B NLRP3
18 amyloidosis 10.2
19 keloids 10.2 IL1B IL1R1
20 isolated growth hormone deficiency 10.2 CASP1 IL1B
21 afibrinogenemia, congenital 10.2 MEFV TNFRSF1A
22 myopathy 10.2 IL1R1 MEFV
23 primary biliary cirrhosis 10.1 IL1R1 TNFRSF1A
24 urticaria 10.1
25 yao syndrome 10.1 IL1B MEFV NLRP3
26 solitary cyst of breast 10.1 CRP NLRP3
27 noma 10.1 IL1B MEFV NLRP3
28 congenital nystagmus 10.1 IL1B MEFV NLRP3
29 pleomorphic lipoma 10.1 CASP1 IL1B
30 x-linked dominant intellectual disability-epilepsy syndrome 10.1 CRP IL1B
31 ciliary body cancer 10.1 CASP1 IL1B NLRP3
32 central nervous system leiomyosarcoma 10.1 CRP IL1B
33 dystonia 17, torsion, autosomal recessive 10.0 CASP1 IL1B NLRP3
34 female breast upper-inner quadrant cancer 10.0 CRP NLRP3
35 sensorineural hearing loss 10.0
36 megaloblastic anemia 10.0 CRP IL1B
37 arthus reaction 10.0 CRP IL1B
38 early congenital syphilis 10.0 CRP NLRP3
39 partial circumpapillary choroid dystrophy 10.0 CRP MEFV
40 amyloidosis nodular localized cutaneous 10.0 CRP MEFV
41 dermatomycosis 10.0 CRP MEFV
42 multiple sclerosis 5 10.0 MEFV NLRP3 TNFRSF1A
43 pyrimidine metabolic disorder 10.0 CRP MEFV
44 myeloid sarcoma 10.0 CRP IL1B
45 breast disease 10.0 CRP IL1B
46 atrophic muscular disease 10.0 MEFV NLRP3 TNFRSF1A
47 spermatic cord torsion 10.0 CASP1 CRP
48 porokeratosis 3, multiple types 10.0 CRP TNFRSF1A
49 atrophy of prostate 10.0 CRP IL1B
50 partial central choroid dystrophy 10.0 CRP MEFV

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:

54

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

Immunology:
polymorphonuclear leukocytosis, episodic
increased il6, episodic

Head And Neck- Eyes:
conjunctivitis, episodic

Skeletal- Limbs:
lower extremity pain

Skeletal:
arthralgia, episodic

Muscle Soft Tissue:
myalgia, episodic

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

56 32 (show all 43)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
2 optic atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000648
3 hepatomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0002240
4 splenomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001744
5 anemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001903
6 glaucoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000501
7 macrocephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000256
8 pes cavus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001761
9 delayed puberty 56 32 occasional (7.5%) Occasional (29-5%) HP:0000823
10 arthritis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001369
11 myalgia 56 32 occasional (7.5%) Occasional (29-5%) HP:0003326
12 ichthyosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0008064
13 fever 56 32 occasional (7.5%) Occasional (29-5%) HP:0001945
14 abdominal pain 56 32 frequent (33%) Frequent (79-30%) HP:0002027
15 nephrotic syndrome 56 32 frequent (33%) Frequent (79-30%) HP:0000100
16 conjunctivitis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000509
17 vasculitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002633
18 skin rash 56 32 hallmark (90%) Very frequent (99-80%) HP:0000988
19 arthralgia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002829
20 nephropathy 56 32 frequent (33%) Frequent (79-30%) HP:0000112
21 urticaria 56 32 frequent (33%) Frequent (79-30%) HP:0001025
22 uveitis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000554
23 recurrent aphthous stomatitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0011107
24 episcleritis 56 32 hallmark (90%) Very frequent (99-80%) HP:0100534
25 cranial nerve paralysis 56 32 hallmark (90%) Very frequent (99-80%) HP:0006824
26 renal amyloidosis 56 32 frequent (33%) Frequent (79-30%) HP:0001917
27 elevated erythrocyte sedimentation rate 56 32 frequent (33%) Frequent (79-30%) HP:0003565
28 hernia of the abdominal wall 56 32 occasional (7.5%) Occasional (29-5%) HP:0004299
29 abnormality of the voice 56 32 occasional (7.5%) Occasional (29-5%) HP:0001608
30 abnormality of the genital system 56 32 occasional (7.5%) Occasional (29-5%) HP:0000078
31 camptodactyly of finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0100490
32 abnormality of the nose 56 32 occasional (7.5%) Occasional (29-5%) HP:0000366
33 abnormality of the palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000174
34 broad foot 56 32 hallmark (90%) Very frequent (99-80%) HP:0001769
35 progressive sensorineural hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000408
36 renal insufficiency 32 HP:0000083
37 restrictive lung disease 56 Occasional (29-5%)
38 leukocytosis 32 HP:0001974
39 hearing impairment 32 HP:0000365
40 episodic fever 32 HP:0001954
41 restrictive ventilatory defect 32 occasional (7.5%) HP:0002091
42 abnormality of metabolism/homeostasis 56 Frequent (79-30%)
43 abnormality of the skin 32 HP:0000951

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 CASP1 IL1B IL1R1 MEFV NLRP3 TNFRSF1A
5 neoplasm MP:0002006 9.26 CASP1 IL1B IL1R1 TNFRSF1A
6 skeleton MP:0005390 9.02 IL1B IL1R1 MEFV NLRP3 TNFRSF1A

Drugs & Therapeutics for Muckle-Wells Syndrome

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

(show top 50) (show all 131)
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
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
13
Warfarin Approved Phase 3 81-81-2 6691 54678486
14
Dopamine Approved Phase 3,Phase 1 51-61-6, 62-31-7 681
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 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 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 58-05-9 143 6006
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 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 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
12 Trial of Mifepristone in Combat Veterans With Posttraumatic Stress Disorder Unknown status NCT00833339 Phase 2 mifepristone;placebo
13 Safety and Tolerability of Rilonacept in Muckle-Wells Syndrome (MWS) or Schnitzler Syndrome (SchS) Completed NCT01045772 Phase 2 rilonacept
14 Interleukin-1 Trap to Treat Autoinflammatory Diseases Completed NCT00094900 Phase 2 IL-1 Trap
15 Safety, Efficacy, Pharmacokinetics, Pharmacodynamics of ACZ885 in Patients With NALP3 Mutations and Clinical Symptoms Completed NCT00487708 Phase 2 canakinumab
16 Safety, Tolerability and PD Activity of Inhaled TPI 1020 Versus Inhaled Budesonide in COPD Patients Completed NCT00483743 Phase 2 TPI 1020;Budesonide;Placebo
17 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
18 HL2351 CAPS Phase II Study Terminated NCT02853084 Phase 2 HL2351
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 XOMA 052
20 Cocktail Approach for Cytochrome P450 and P-glycoprotein Activity Assessment Using Dried Blood Spot Completed NCT01731067 Phase 1 Cocktail probe drugs
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 Bright Light: An Adjunct Treatment for Combat Posttraumatic Stress Disorder (PTSD) Active, not recruiting NCT00701064 Phase 1
23 Study of Eye Movement Desensitization and Reprocessing (EMDR) Working Mechanism Unknown status NCT01209377
24 A Study of Nutritional Supplementation in Altering Ecchymosis, Erythema and Health Outcomes Associated With Aesthetic Procedures Unknown status NCT01919359
25 The CAP-2 Trial: Effect of Direct Pulp Capping Versus Partial Pulpotomy Completed NCT00187850
26 Novel Treatment of Emotional Dysfunction in Post Traumatic Stress Disorder (PTSD) Completed NCT01391832
27 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Factors Completed NCT00933296
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) - 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:

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, Prostate, Eye

Publications for Muckle-Wells Syndrome

Articles related to Muckle-Wells Syndrome:

(show top 50) (show all 73)
id Title Authors Year
1
Endometriosis in the setting of Muckle-Wells syndrome treated with an IL-1I^ antagonist. ( 28508753 )
2017
2
Muckle-Wells syndrome: clinical perspectives. ( 28744167 )
2017
3
Periodic fever: From Still's disease to Muckle-Wells syndrome. ( 28583784 )
2017
4
Muckle-Wells syndrome in the setting of basal cell nevus syndrome. ( 28686751 )
2017
5
Placental Transfer of Canakinumab in a Patient with Muckle-Wells Syndrome. ( 28386702 )
2017
6
A Novel Mutation in the Pyrin Domain of the NOD-like Receptor Family Pyrin Domain Containing Protein 3 in Muckle-Wells Syndrome. ( 28229991 )
2017
7
Muckle-Wells Syndrome: A Case Report with an NLRP3 T348M Mutation. ( 27435956 )
2016
8
Muckle-Wells syndrome in Chinese patients: a single center case series. ( 28028683 )
2016
9
Budget Impact Analysis of Canacinumab In The Treatment of Patients With Muckle-Wells Syndrome In The Russian Federation. ( 26533715 )
2015
10
Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation. ( 25766347 )
2015
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 associated with multifocal clinically isolated syndrome. ( 24618190 )
2014
14
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
15
Muckle-Wells syndrome: individualized, reflare-guided dosing of the orphan drug canakinumab. ( 23745225 )
2013
16
Renal and thyroid amyloidosis secondary tocryopyrin-associated periodic syndrome(Muckle-Wells syndrome) (NLRP3 mutation). ( 23511763 )
2013
17
Chronic keratitis with intrastromal epithelioid histiocytes: a new finding in Muckle-Wells syndrome. ( 23187166 )
2013
18
Hearing loss in Muckle-Wells syndrome. ( 23440695 )
2013
19
Challenges in diagnosing Muckle-Wells syndrome: Identifying two distinct phenotypes. ( 24127202 )
2013
20
Muckle-Wells syndrome: a treatable cause of congenital sensorineural hearing loss. ( 23909124 )
2013
21
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes. ( 24326009 )
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
Treatment of Muckle-Wells syndrome: analysis of two IL-1-blocking regimens. ( 23718630 )
2013
24
Muckle-Wells syndrome and male hypofertility: a case series. ( 22512814 )
2012
25
Progressive familial hearing loss in Muckle-Wells syndrome. ( 22497426 )
2012
26
Muckle-Wells syndrome effectively treated with canakinumab: is the recommended dosing schedule mandatory? ( 21967869 )
2011
27
NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment. ( 22146561 )
2011
28
Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome. ( 21360513 )
2011
29
Successful renal transplantation in Muckle-Wells syndrome treated with anti-IL-1I^-monoclonal antibody. ( 25984207 )
2011
30
Audiometric characteristics of a Dutch family with Muckle-Wells syndrome. ( 21810457 )
2011
31
An unusual phenotype in Muckle-Wells syndrome associated with NLRP3 E311K. ( 20819795 )
2011
32
Muckle-Wells syndrome/neonatal-onset multisystem inflammatory disease overlap associated with myelodysplasia and cerebrovascular accident. ( 20456407 )
2010
33
Risk factors for severe Muckle-Wells syndrome. ( 20722029 )
2010
34
[Improvement of sensoneurinal hearing loss in a patient with Muckle-Wells syndrome treated with anakinra]. ( 20135584 )
2010
35
Four cases of Muckle-Wells syndrome within the same family. ( 21308320 )
2010
36
H syndrome and Muckle-Wells syndrome. ( 19615552 )
2009
37
Brain multiple sclerosis-like lesions in a patient with Muckle-Wells syndrome. ( 19828598 )
2009
38
Hyperpigmented, hypertrichotic, and sclerodermoid plaques: an unusual variant of Muckle-Wells syndrome. ( 19664849 )
2009
39
Quiz page. Muckle Wells syndrome. ( 18971008 )
2008
40
Anakinra improves sensory deafness in a Japanese patient with Muckle-Wells syndrome, possibly by inhibiting the cryopyrin inflammasome. ( 18311804 )
2008
41
[Biological and clinical aspects of Muckle-Wells syndrome]. ( 17473514 )
2007
42
A case of Muckle-Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin). ( 18084703 )
2007
43
Muckle-Wells syndrome: another cause of acute anterior uveitis. ( 17277755 )
2007
44
A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra. ( 17486372 )
2007
45
Diagnosis of Muckle-Wells syndrome - 33 years later. ( 18061973 )
2007
46
Lasting remission of a Muckle-Wells syndrome with CIAS-1 mutation using half-dose anakinra. ( 17892965 )
2007
47
[Successful treatment of clinical manifestations of Muckle-Wells syndrome with anakinra]. ( 16915547 )
2006
48
A probable case of Muckle-Wells syndrome. ( 16556280 )
2006
49
[Muckle-Wells syndrome: a rare periodic fever syndrome]. ( 16901068 )
2006
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:

71
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 15)
id Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.95 CASP1 IL1B IL1R1 NLRP3 TNFRSF1A
2 apoptotic process GO:0006915 9.8 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 cytokine-mediated signaling pathway GO:0019221 9.58 IL1B IL1R1 TNFRSF1A
6 negative regulation of inflammatory response GO:0050728 9.54 MEFV NLRP3 TNFRSF1A
7 cellular response to organic substance GO:0071310 9.52 CASP1 IL1B
8 positive regulation of interleukin-1 beta secretion GO:0050718 9.51 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 inflammatory response GO:0006954 9.35 CRP IL1B MEFV NLRP3 TNFRSF1A
12 regulation of inflammatory response GO:0050727 9.33 CASP1 IL1R1 NLRP3
13 regulation of establishment of endothelial barrier GO:1903140 9.32 IL1B TNFRSF1A
14 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.24 NLRP3
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:

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.32 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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