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
(42.4%)		 28028683
 Muckle-Wells syndrome in Chinese patients: a single center case series.
Wu D, Shen M.
Clin Rheumatol. 2017;36(4):965-969.
Oral ulcer Conjunctivitis Arthritis
NLRP3
p|SUB|D|29|V p|SUB|Q|703|K;RS#:35829419 p|SUB|T|348|M;RS#:151344629 p|SUB|V|70|M;RS#:117287351
Adult Arthritis Asians China Cryopyrin-Associated Periodic Syndromes Exanthema Heterozygote Homo sapiens Male Middle Aged Mutation NLR Family, Pyrin Domain-Containing 3 Protein Oral Ulcer Phenotype Young Adult
2
(40.9%)		 31057541
 Muckle-Wells Syndrome Across Four Generations in One Czech Family: Natural Course of the Disease.
Fingerhutova , Fraova J, Hlavakova E, Janova E, Prochazkova L, Berankova K, Tesaova M, Honsova E, Dolealova P.
Front Immunol. 2019;10:802.
Conjunctivitis Arthralgia/arthritis
IL1A
p|SUB|A|441|V
Adult Child, Preschool Cryopyrin-Associated Periodic Syndromes Czech Republic Disease Progression Family Characteristics Females Follow-Up Studies Homo sapiens Infant Interleukin-1 Male Middle Aged Mutation Phenotype Prospective Studies Retrospective Studies Young Adult
2
(40.9%)		 18311804
 Anakinra improves sensory deafness in a Japanese patient with Muckle-Wells syndrome, possibly by inhibiting the cryopyrin inflammasome.
Yamazaki T, Masumoto J, Agematsu K, Sawai N, Kobayashi S, Shigemura T, Yasui K, Koike K.
Arthritis Rheum. 2008;58(3):864-8.
Conjunctivitis Arthropathy
CRP IL1B NLRP3
c|SUB|C|778|T;RS#:121908150 p|SUB|R|260|W;RS#:121908150
Antirheumatic Agents Autoimmune Diseases Carrier Proteins Child Conjunctivitis Deafness Exanthema Females Homo sapiens Interleukin 1 Receptor Antagonist Protein Mutation NLR Family, Pyrin Domain-Containing 3 Protein Syndrome
2
(40.9%)		 17473514
 [Biological and clinical aspects of Muckle-Wells syndrome].
Kubota T, Koike R.
Nihon Rinsho Meneki Gakkai Kaishi. 2007;30(2):114-22.
Conjunctivitis Arthritis
CASP1 IL1B IL1RN NLRP3
Adult Arthropathy Females Homo sapiens Male Middle Aged Urticaria
5
(31.0%)		 12673085
 CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes.
Granel B, Philip N, Serratrice J, Ene N, Grateau G, Dode C, Cuisset L, Disdier P, Berbis P, Delpech M, Weiller PJ.
Dermatology. 2003;206(3):257-9.
Urticaria Clubbing
NLRP3
Adult Arthritis Blood Proteins Carrier Proteins Deafness Differential Diagnosis Face Fingers Homo sapiens Male Mutation NLR Family, Pyrin Domain-Containing 3 Protein Syndrome Urticaria
6
(29.4%)		 27435956
 Muckle-Wells Syndrome: A Case Report with an NLRP3 T348M Mutation.
Naz Villalba E, Gomez de la Fuente E, Caro Gutierrez D, Pinedo Moraleda F, Yanguela Rodilla J, Mazagatos Angulo D, Lopez Estebaranz JL.
Pediatr Dermatol. 2016;33(5):e311-4.
Conjunctivitis
NLRP3
p|SUB|T|348|M;RS#:151344629
Child, Preschool Cryopyrin-Associated Periodic Syndromes Females Homo sapiens Mutation NLR Family, Pyrin Domain-Containing 3 Protein
6
(29.4%)		 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
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
6
(29.4%)		 25614348
 [Papillary edema in Muckle-Wells syndrome].
Wirths G, Grenzebach U, Eter N.
Ophthalmologe. 2015;112(9):778-82.
Conjunctivitis
IL1B
Anti-Inflammatory Agents Child Cryopyrin-Associated Periodic Syndromes Differential Diagnosis Homo sapiens Male Papilledema Tomography, Optical Coherence
6
(29.4%)		 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 Conjunctivitis
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
6
(29.4%)		 21308320
 Four cases of Muckle-Wells syndrome within the same family.
Pereira AF, Pereira LB, Vale EC, Tanure LA.
An Bras Dermatol. 2010;85(6):907-11.
Conjunctivitis
IL1B NLRP3
Adult Biopsy Cryopyrin-Associated Periodic Syndromes Females Fluorescent Antibody Technique, Direct Homo sapiens Male Skin Young Adult
        

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