Muckle-wells syndrome

Preferred Label : Muckle-wells syndrome;

Symbol : MWS;

CISMeF acronym : CAPS2; MWS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Urticaria-deafness-amyloidosis syndrome; Uda syndrome; CAPS2; Cryopyrin-associated periodic syndrome 2;

Description : 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,;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the NLR family, pyrin-domain containing 3 gene (NLRP3, 606416.0004);

Laboratory abnormalities : Polymorphonuclear leukocytosis, episodic; Increased erythrocyte sedimentation rate, episodic; Increased IL6, episodic;

Prefixed ID : #191900;

Details

Origin ID

191900;

UMLS CUI

C0268390;

Automatic exact mappings (from CISMeF team)
- CADPS2 wt Allele [NCIt concept]
- Calcium-Dependent Secretion Activator 2 [NCIt concept]
- Milliwatt (qualifier value) [SNOMED CT concept]
- Molecular Mass [NCIt concept]
- NLR family pyrin domain containing 3 [ORDO Gene]
- NLR family pyrin domain containing 3 [HGNC gene]
- NLRP3 wt Allele [NCIt concept]
- cryopyrin-associated periodic syndromes [MeSH Descriptor]
Currated CISMeF NLP mapping
- Familial amyloid nephropathy with urticaria AND deafness (disorder) [SNOMED CT concept]
- Muckle-Wells Syndrome [NCIt concept]
- Muckle-Wells syndrome [PASCAL descriptor]
- Muckle-Wells syndrome [DO Concept]
- Muckle-Wells syndrome [Disease (Nov.)]
- Muckle-Wells syndrome [ICD-11 More detail]
- Muckle-Wells syndrome [MedDRA Preferred Term]
- Muckle-Wells syndrome [MeSH concept]
- Muckle-Wells syndrome [ORDO Disease]
- familial amyloid nephropathy with urticaria and deafness [SNOMED Notion]
DO Cross reference
- Muckle-Wells syndrome [DO Concept]
False automatic mappings
- Malawi [NCIt concept]
Genes related to phenotype
- Nlr family, pyrin domain-containing 3 [OMIM gene]
HPO term(s)
- Arthralgia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Chronic fatigue [HPO term]
- Clubbing of fingers [HPO term]
- Conjunctival hyperemia [HPO term]
- Conjunctivitis [HPO term]
- Deafness [HPO term]
- Elevated circulating C-reactive protein concentration [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Hearing impairment [HPO term]
- Juvenile onset [HPO term]
- Leukocytosis [HPO term]
- Maculopapular exanthema [HPO term]
- Myalgia [HPO term]
- Polyarticular arthritis [HPO term]
- Progressive sensorineural hearing impairment [HPO term]
- Recurrent aphthous stomatitis [HPO term]
- Recurrent fever [HPO term]
- Renal amyloidosis [HPO term]
- Renal insufficiency [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Muckle-Wells syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial amyloid nephropathy with urticaria AND deafness (disorder) [SNOMED CT concept]
- Muckle-Wells Syndrome [NCIt concept]
- Muckle-Wells syndrome [MedDRA Preferred Term]
- Muckle-Wells syndrome [ORDO Disease]
- Muckle-Wells syndrome [MeSH concept]
- Muckle-Wells syndrome [DO Concept]
- Muckle-Wells syndrome [PASCAL descriptor]
- Muckle-Wells syndrome [Disease (Nov.)]
- Muckle-Wells syndrome [ICD-11 More detail]
- familial amyloid nephropathy with urticaria and deafness [SNOMED Notion]

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