Familial amyloid nephropathy with urticaria AND deafness
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Sign InDescription
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.
Mode of Inheritance
- Autosomal dominant inheritance
VARIANTS
102