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GTR Home > Conditions/Phenotypes > Familial amyloid nephropathy with urticaria AND deafness

Familial amyloid nephropathy with urticaria AND deafness

Synonyms
CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 2; MUCKLE-WELLS SYNDROME; UDA syndrome; Urticaria, deafness and amyloidosis; Urticaria-deafness-amyloidosis syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

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). [from OMIM]

Available tests

46 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (46 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AGTAVPRL, AII, AVP, C1orf7, CIAS1, CLR1.1, DFNA34, FCAS, FCAS1, FCU, KEFH, MWS, NALP3, PYPAF1, NLRP3
    Summary: NLR family pyrin domain containing 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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