Details of Disease

General Information of Disease (ID: DISMT3TQ)

Disease Name Muckle-Wells syndrome
Synonyms
Muckle Wells syndrome; urticaria, deafness and amyloidosis; Cryopyrin-associated periodic syndrome 2; MUCKLE-Wells syndrome; MWS; Uda syndrome; urticaria-deafness-amyloidosis syndrome; neutrophilic urticaria; Muckle-Wells syndrome
Definition
An intermediate form of cryopyrin-associated periodic syndrome (CAPS) 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).
Disease Hierarchy
DIS3HIWD: Autosomal dominant disease
DISPXXOZ: Cryopyrin-associated periodic syndrome
DISMT3TQ: Muckle-Wells syndrome
Disease Identifiers
MONDO ID
MONDO_0008633
MESH ID
D056587
UMLS CUI
C0268390
OMIM ID
191900
MedGen ID
120634
Orphanet ID
575
SNOMED CT ID
15123008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NLRP3 TT4EN8X Supportive Autosomal dominant [1]
MME TT5TKPM Strong Biomarker [2]
ZEB2 TTT2WK4 Strong Genetic Variation [3]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MEFV OTRJ6S6K Limited Biomarker [4]
NLRP3 OTZM6MHU Supportive Autosomal dominant [1]
GEMIN2 OT4L6TLL moderate Genetic Variation [5]
SCAF11 OTX59D0X moderate Genetic Variation [5]
NLRP12 OTGR132Z Strong Genetic Variation [6]
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References

1 Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet. 2001 Nov;29(3):301-5. doi: 10.1038/ng756.
2 Chronic infantile neurological cutaneous articular syndrome: CD10 over-expression in neutrophils is a possible key to the pathogenesis of the disease.Eur J Pediatr. 2003 Oct;162(10):669-73. doi: 10.1007/s00431-003-1284-x. Epub 2003 Aug 20.
3 Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing.Am J Med Genet A. 2019 Oct;179(10):2152-2157. doi: 10.1002/ajmg.a.61295. Epub 2019 Jul 19.
4 A Novel Mutation in the Pyrin Domain of the NOD-like Receptor Family Pyrin Domain Containing Protein 3 in Muckle-Wells Syndrome.Chin Med J (Engl). 2017 Mar 5;130(5):586-593. doi: 10.4103/0366-6999.200537.
5 Clinical features and management issues in Mowat-Wilson syndrome.Am J Med Genet A. 2006 Dec 15;140(24):2730-41. doi: 10.1002/ajmg.a.31530.
6 C3 glomerulopathy in NLRP12-related autoinflammatory disorder: case-based review.Rheumatol Int. 2018 Aug;38(8):1571-1576. doi: 10.1007/s00296-018-4092-3. Epub 2018 Jun 27.