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Diseases

Genetic and Rare Diseases Information Center (GARD)

Muckle-Wells syndrome


Other Names for this Disease
  • Urticaria, deafness and amyloidosis
  • Urticaria-deafness-amyloidosis syndrome
  • UDA syndrome
  • Muckle Wells syndrome
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Overview

Muckle-Wells syndrome is an autoinflammatory disease, and the intermediate form of cryopyrin-associated periodic syndrome (CAPS). Signs and symptoms may include recurrent episodes of fever, skin rash, joint pain, abdominal pain, and pinkeye; progressive sensorineural deafness; and amyloidosis. It is caused by mutations in the NLRP3 gene and is inherited in an autosomal dominant manner. Treatment includes a medication called Anakinra during acute episodes.[1]
Last updated: 4/7/2014

References

  1. Delwyn Dyall-Smith. Muckle-Wells syndrome. DermNet NZ. December 29, 2013; http://dermnetnz.org/systemic/muckle-wells.html. Accessed 4/7/2014.
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Basic Information

  • The Cleveland Clinic provides an overview of the different types of periodic fever syndromes.
  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on Muckle-Wells syndrome. This website is maintained by the National Library of Medicine.
  • The United States Food and Drug Administration approved a new drug for the treatment of rare inflammatory syndromes, including Muckle-Wells syndrome, in February of 2008. More information about Muckle-Wells syndrome and this treatment can be found by clicking on the above link.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Muckle-Wells syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Other Names for this Disease
  • Urticaria, deafness and amyloidosis
  • Urticaria-deafness-amyloidosis syndrome
  • UDA syndrome
  • Muckle Wells syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.