National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Muckle-Wells syndrome


Other Names:
Urticaria, deafness and amyloidosis; Urticaria-deafness-amyloidosis syndrome; UDA syndrome; Urticaria, deafness and amyloidosis; Urticaria-deafness-amyloidosis syndrome; UDA syndrome; Muckle Wells syndrome See More
Categories:
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 medications such as canakinumab and rilonacept.[1]
Last updated: 4/7/2014

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Arthralgia
Joint pain
0002829
Arthritis
Joint inflammation
0001369
Broad foot
Broad feet
Wide foot
[ more ] 		0001769
Conjunctivitis
Pink eye
0000509
Cranial nerve paralysis 0006824
Episcleritis
Inflammation of the thin layer on top of the white part of eye
0100534
Hepatomegaly
Enlarged liver
0002240
Progressive sensorineural hearing impairment 0000408
Skin rash 0000988
Splenomegaly
Increased spleen size
0001744
Uveitis 0000554
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain
[ more ] 		0002027
Elevated erythrocyte sedimentation rate
High ESR
0003565
Nephropathy 0000112
Nephrotic syndrome 0000100
Renal amyloidosis 0001917
Urticaria
Hives
0001025
5%-29% of people have these symptoms
Abnormal palate morphology
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ] 		0000174
Abnormality of the genital system
Genital abnormalities
Genital abnormality
Genital anomalies
Genital defects
[ more ] 		0000078
Abnormality of the nose
Nasal abnormality
0000366
Abnormality of the voice
Voice abnormality
0001608
Anemia
Low number of red blood cells or hemoglobin
0001903
Camptodactyly of finger
Permanent flexion of the finger
0100490
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] 		0000823
Fever 0001945
Glaucoma 0000501
Hernia of the abdominal wall 0004299
Ichthyosis 0008064
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ] 		0000256
Myalgia
Muscle ache
Muscle pain
[ more ] 		0003326
Optic atrophy 0000648
Pes cavus
High-arched foot
0001761
Recurrent aphthous stomatitis
Recurrent canker sores
0011107
Restrictive ventilatory defect
Stiff lung or chest wall causing decreased lung volume
0002091
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Vasculitis
Inflammation of blood vessel
0002633
Percent of people who have these symptoms is not available through HPO
Abnormality of the mouth
Abnormal mouth
0000153
Abnormality of the skin 0000951
Autosomal dominant inheritance 0000006
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Infantile onset
Onset in first year of life
Onset in infancy
[ more ] 		0003593
Leukocytosis
Elevated white blood count
High white blood count
Increased blood leukocyte number
[ more ] 		0001974
Recurrent fever
Episodic fever
Increased body temperature, episodic
Intermittent fever
[ more ] 		0001954
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
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Last updated: 7/1/2020

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

  • Rilonacept (Brand name: Arcalyst) - Manufactured by Regeneron Pharmaceuticals, Inc.
    FDA-approved indication: February 2008, rilonacept (Arcalyst) was approved for treatment of cryopyrin-assisted periodic syndromes (CAPS).
    National Library of Medicine Drug Information Portal
  • Canakinumab (Brand name: Ilaris) - Manufactured by Novartis Pharmaceuticals Corporation
    FDA-approved indication: June 2009, canakinumab (Ilaris) was approved for the treatment of cryopyrin-associated periodic syndromes (CAPS), in adults and children 4 years of age and older. In May 2013, it was also approved for the treatment of active Systemic Juvenile Idiopathic Arthritis (SJIA) in patients aged 2 through 16 years.
    National Library of Medicine Drug Information Portal

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Muckle-Wells syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Social Networking Websites

  • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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 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

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Is there a written language expressive disorder, or component, noted with Muckle Wells syndrome? It would be helpful to know if there are any educational learning disabilities associated with this syndrome other than potential for hearing loss and related concerns with hearing loss. See answer

  • Is Muckle-Wells Syndrome life threatening? See answer


  1. Dyall-Smith D. Muckle-Wells syndrome. DermNet NZ. 2011; https://www.dermnetnz.org/topics/muckle-wells-syndrome/.