Muckle-Wells syndrome

Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).



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Narrow down the case reports



Total: 57 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(44.7%)		 11204501
 The Schnitzler syndrome. Four new cases and review of the literature.
Lipsker D, Veran Y, Grunenberger F, Cribier B, Heid E, Grosshans E.
Medicine (Baltimore). 2001;80(1):37-44.
Skin rash Anemia Fever
Adult Adult-Onset Still Disease Differential Diagnosis Exanthema Females Fever Homo sapiens Immunoglobulin M Lymphoma Male Middle Aged Monoclonal Antibodies Musculoskeletal Diseases Schnitzler Syndrome Skin Urticaria
2
(39.6%)		 14711598
 Hepatitis B-assocciated adult-onset Still's disease presenting with neutrophilic urticaria.
Gambichler T, Paech V, Rotterdam S, Stucker M, Boms S, Altmeyer P.
Eur J Med Res. 2003;8(12):527-30.
Urticaria Fever Leukocytosis Hepatitis
Adult Adult-Onset Still Disease Anti-Inflammatory Agents Anti-Inflammatory Agents, Non-Steroidal Differential Diagnosis Fever of Unknown Origin Hepatitis B Homo sapiens Male Reverse Transcriptase Inhibitors Time Factors Urticaria
3
(38.2%)		 29797525
 Four cases of acute infectious urticaria showing significant elevation of plasma D-dimer level.
Takahashi T, Minami S, Teramura K, Tanaka T, Fujimoto N.
J Dermatol. 2018;45(8):1013-1016.
Urticaria Fever Disseminated intravascular coagulation
Acute Disease Adult Anti-Bacterial Agents Biological Markers Combination Drug Therapy Females Histamine Antagonists Homo sapiens Male Middle Aged Severity of Illness Index Urticaria Young Adult
4
(34.7%)		 16556280
 A probable case of Muckle-Wells syndrome.
Kagami S, Saeki H, Kuwano Y, Imakado S, Tamaki K.
J Dermatol. 2006;33(2):118-21.
Nephropathy Urticaria Hepatosplenomegaly Fever
NLRP3
c|SUB|C|778|T;RS#:121908150 c|SUB|G|1075|C c|SUB|G|1315|A;RS#:180177430 c|SUB|G|907|A;RS#:121908153|201504984 c|SUB|T|785|C;RS#:104895392
Adult Females Fever Follow-Up Studies Health Risk Assessment Homo sapiens Immunohistochemistry Periodicity Rare Diseases Syndrome Urticaria
5
(26.9%)		 25766347
(4943435)
 Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation.
Abdulla MC, Alungal J, Hawkins PN, Mohammed S.
J Postgrad Med. 2015;61(2):120-2.
Conjunctivitis Urticaria Fever
NLRP3
p|SUB|D|303|N;RS#:121908153
Adult Amplified Fragment Length Polymorphism Analysis Asians Base Sequence Carrier Proteins Cryopyrin-Associated Periodic Syndromes Fever Homo sapiens Male Mutation NLR Family, Pyrin Domain-Containing 3 Protein Phenotype
5
(26.9%)		 24510061
 Renal involvement in secondary amyloidosis of Muckle-Wells syndrome: marked improvement of renal function and reduction of proteinuria after therapy with human anti-interleukin-1beta monoclonal antibody canakinumab.
Scarpioni R, Rigante D, Cantarini L, Ricardi M, Albertazzi V, Melfa L, Lazzaro A.
Clin Rheumatol. 2015;34(7):1311-6.
Renal insufficiency Proteinuria Conjunctivitis Urticaria
IL1B NLRP3
p|SUB|R|260|W;RS#:121908150 p|SUB|V|198|M;RS#:121908147
Adult Amyloidosis Antibodies, Monoclonal, Humanized Antirheumatic Agents Cryopyrin-Associated Periodic Syndromes Glomerular Filtration Rate Heterozygote Homo sapiens Inflammation Kidney Diseases Male Middle Aged Monoclonal Antibodies Mutation Proteinuria Renal Insufficiency
5
(26.9%)		 24150829
 Muckle-Wells cryopyrinopathy: complex phenotyping and response to therapy in a new multiplex kindred.
Headley AP, Cordingley F, Hawkins PN, Riminton DS.
Inflammation. 2014;37(2):396-401.
Infertility Urticaria Fever
IL1A
Adult Anti-Inflammatory Agents Carrier Proteins Cryopyrin-Associated Periodic Syndromes DNA Mutational Analysis Females Fertility Genetic Predisposition to Disease Homo sapiens Inflammation Mediators Interleukin 1 Receptor Antagonist Protein Interleukin-1 Male Mutation NLR Family, Pyrin Domain-Containing 3 Protein Phenotype Polymerase Chain Reaction Time Factors Up-Regulation (Physiology)
5
(26.9%)		 23909124
 Muckle-Wells syndrome: a treatable cause of congenital sensorineural hearing loss.
Stew BT, Fishpool SJ, Owens D, Quine S.
B-ENT. 2013;9(2):161-3.
Urticaria Fever
NLRP3
Antirheumatic Agents Auditory Threshold Child Cryopyrin-Associated Periodic Syndromes Females Homo sapiens Interleukin 1 Receptor Antagonist Protein
5
(26.9%)		 23715523
 Neutrophilic urticaria with systemic inflammation: a case series.
Belani H, Gensler L, Bajpai U, Meinhardt E, Graf J, Pincus L, Leslie KS.
JAMA Dermatol. 2013;149(4):453-8.
Urticaria Fever
IL1A
Differential Diagnosis Females Homo sapiens Inflammation Interleukin-1 Middle Aged Urticaria Young Adult
5
(26.9%)		 22997920
 [Muckle-Wells syndrome caused by a new cryopyrin mutation: effective treatment with interleukin-1 antagonist].
Rameev VV, Kozlovskaia LV, Bogdanova MV.
Ter Arkh. 2012;84(6):53-9.
Fever Cold urticaria
NLRP3
Adult Carrier Proteins Cryopyrin-Associated Periodic Syndromes Females Homo sapiens Interleukin 1 Receptor Antagonist Protein Interleukin-1 Missense Mutation NLR Family, Pyrin Domain-Containing 3 Protein
        

Phenotype(s) retrieved from Orphanet

    Total: 37

HPO ID Term Frequency
HP:0000408 Progressive sensorineural hearing impairment Very frequent (99-80%)
HP:0000509 Conjunctivitis Very frequent (99-80%)
HP:0000554 Uveitis Very frequent (99-80%)
HP:0000988 Skin rash Very frequent (99-80%)
HP:0001369 Arthritis Very frequent (99-80%)
HP:0001744 Splenomegaly Very frequent (99-80%)
HP:0001769 Broad foot Very frequent (99-80%)
HP:0002240 Hepatomegaly Very frequent (99-80%)
HP:0002829 Arthralgia Very frequent (99-80%)
HP:0006824 Cranial nerve paralysis Very frequent (99-80%)
HP:0100534 Episcleritis Very frequent (99-80%)
HP:0000100 Nephrotic syndrome Frequent (79-30%)
HP:0000112 Nephropathy Frequent (79-30%)
HP:0001025 Urticaria Frequent (79-30%)
HP:0001917 Renal amyloidosis Frequent (79-30%)
HP:0001939 Abnormality of metabolism/homeostasis Frequent (79-30%)
HP:0002027 Abdominal pain Frequent (79-30%)
HP:0003565 Elevated erythrocyte sedimentation rate Frequent (79-30%)
HP:0000078 Abnormality of the genital system Occasional (29-5%)
HP:0000174 Abnormal palate morphology Occasional (29-5%)
HP:0000256 Macrocephaly Occasional (29-5%)
HP:0000366 Abnormality of the nose Occasional (29-5%)
HP:0000501 Glaucoma Occasional (29-5%)
HP:0000648 Optic atrophy Occasional (29-5%)
HP:0000823 Delayed puberty Occasional (29-5%)
HP:0001608 Abnormality of the voice Occasional (29-5%)
HP:0001761 Pes cavus Occasional (29-5%)
HP:0001903 Anemia Occasional (29-5%)
HP:0001945 Fever Occasional (29-5%)
HP:0002091 Restrictive ventilatory defect Occasional (29-5%)
HP:0002633 Vasculitis Occasional (29-5%)
HP:0003326 Myalgia Occasional (29-5%)
HP:0004299 Hernia of the abdominal wall Occasional (29-5%)
HP:0004322 Short stature Occasional (29-5%)
HP:0008064 Ichthyosis Occasional (29-5%)
HP:0011107 Recurrent aphthous stomatitis Occasional (29-5%)
HP:0100490 Camptodactyly of finger Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 21

HPO ID Term # of case reports
HP:0001025 Urticaria 10
HP:0001945 Fever 6
HP:0002829 Arthralgia 6
HP:0000112 Nephropathy 5
HP:0001369 Arthritis 2
HP:0000093 Proteinuria 1
HP:0000100 Nephrotic syndrome 1
HP:0000491 Keratitis 1
HP:0000509 Conjunctivitis 1
HP:0000717 Autism 1
HP:0000821 Hypothyroidism 1
HP:0000853 Goiter 1
HP:0000969 Edema 1
HP:0000988 Skin rash 1
HP:0003326 Myalgia 1
HP:0010783 Erythema 1
HP:0012431 Episodic fatigue 1
HP:0030223 Perseveration 1
HP:0032323 Periodic fever 1
HP:0100778 Cryoglobulinemia 1
HP:0410135 Cold urticaria 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
NLRP3 NLR family pyrin domain containing 3 114548