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Familial amyloid nephropathy with urticaria AND deafness

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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, CAPS1; 120100), an allelic disorder with overlapping clinical features.

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

102

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Genes

External Links

  • OMIM

    191900

  • Orphanet

    575

  • HPO
  • Medgen

    C0268390

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