Muckle-Wells syndrome

Title

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:

Congenital and Genetic Diseases; Immune System Diseases; Kidney and Urinary Diseases; Congenital and Genetic Diseases; Immune System Diseases; Kidney and Urinary Diseases; Musculoskeletal Diseases; Skin Diseases See More

Summary Summary

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

Symptoms Symptoms

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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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 3/1/2020

Do you have updated information on this disease? We want to hear from you.

Treatment Treatment

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

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

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.

Organizations Organizations

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

FMF & AID Global Association
Schüracherstrasse 25a
8306 Brüttisellen
Switzerland
Telephone: +41 76 415 4010
E-mail: info@fmfandaid.org
Website: https://www.fmfandaid.org/
Primary Immune Deficiency UK (PID UK)
PO Box 6970
Basingstoke, RG24 4XL United Kingdom
Toll-free: 0800 987 8986
E-mail: hello@piduk.org
Website: http://www.piduk.org/

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).

Do you know of an organization? We want to hear from you.

Learn More Learn More

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

Leigh D Church, Sinisa Savic, and Michael F McDermott; Long term management of patients with cryopyrin-associated periodic syndromes (CAPS): focus on rilonacept (IL-1 Trap), Biologics. 2008 December; 2(4): 733–742.

GARD Answers GARD Answers

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

Have a question? Contact a GARD Information Specialist.