Muckle-Wells syndrome

Common Name(s)

Muckle-Wells syndrome

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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Muckle-Wells syndrome" for support, advocacy or research.

stopcaidnow.org

Our mission is simple-Educate, Provide Awareness, and Fund Researchers who are committed to finding a cure. StopCAIDnow(501c3) is focused on providing tools to better educate Doctor’s and the community on AutoInflammatory diseases. There is a need for an understanding of these diseases so proper diagnosis can be made, and treatment can be started. This will help alleviate the inflammation process, 7 the pain that comes with it. Proper diagnosis is urgent for the prognosis of these diseases. If left untreated damage to the tissues, organs & vision(for some) will not only be irreversible but devastating

Last Updated: 5 Mar 2013

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The NOMID Alliance

The NOMID Alliance is a 501 (c)(3) non-profit public charity dedicated to promoting awareness, proper diagnosis and treatment, and improved care for people with autoinflammatory diseases.

Last Updated: 16 Aug 2013

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Muckle-Wells syndrome" for support, advocacy or research.

stopcaidnow.org

Our mission is simple-Educate, Provide Awareness, and Fund Researchers who are committed to finding a cure. StopCAIDnow(501c3) is focused on providing tools to better educate Doctor’s and the community on AutoInflammatory diseases. There is a need for an understanding of these diseases so proper diagnosis can be made, and treatment can be started. This will help alleviate the inflammation process, 7 the pain that comes with it. Proper diagnosis is urgent for the prognosis of these diseases. If left untreated damage to the tissues, organs & vision(for some) will not only be irreversible but devastating

http://www.stopcaidnow.org

Last Updated: 5 Mar 2013

View Details
The NOMID Alliance

The NOMID Alliance is a 501 (c)(3) non-profit public charity dedicated to promoting awareness, proper diagnosis and treatment, and improved care for people with autoinflammatory diseases.

http://www.nomidalliance.org

Last Updated: 16 Aug 2013

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General Support Organizations

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General Resources

Comparison Chart of Systemic Autoinflammatory DIseases

This comparative chart of Autoinflammatory Diseases lists symptoms, lab findings, genetic mutations and images for each disease.

Uploaded By: The NOMID Alliance

Updated 15 Aug 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Muckle-Wells syndrome" returned 19 free, full-text research articles on human participants. First 3 results:

Renal and thyroid amyloidosis secondary tocryopyrin-associated periodic syndrome(Muckle-Wells syndrome) (NLRP3 mutation).
 

Author(s): Luis Bolaños, Juan M Mosquera-Reboredo, Mercedes Cao, Tamara Ferreiro, Beatriz Veleiro, Francisco Valdés, Eduardo Vázquez-Martul

Journal: Nefrologia. 2013 ;33(2):266-71.

 

Last Updated: 20 Mar 2013

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Hearing loss in Muckle-Wells syndrome.
 

Author(s): Jasmin B Kuemmerle-Deschner, Assen Koitschev, Katharina Ummenhofer, Sandra Hansmann, Stefan K Plontke, Christiane Koitschev, Ina Koetter, Eva Angermair, Susanne M Benseler

Journal: Arthritis Rheum.. 2013 Mar;65(3):824-31.

 

Muckle-Wells syndrome (MWS) is an inherited autoinflammatory disease characterized by fevers, rashes, arthralgia, conjunctivitis, and sensorineural hearing loss. In MWS, NLRP3 gene mutations are associated with excessive interleukin-1 release. The aims of this study were to determine ...

Last Updated: 26 Feb 2013

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NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment.
 

Author(s): Jasmin B Kuemmerle-Deschner, Peter Lohse, Ina Koetter, Guenther E Dannecker, Fabian Reess, Katharina Ummenhofer, Silvia Koch, Nikolay Tzaribachev, Anja Bialkowski, Susanne M Benseler

Journal: Arthritis Res. Ther.. 2011 ;13(6):R196.

 

Muckle-Wells syndrome (MWS) is an inherited autoinflammatory disease characterized by fever, rash, arthralgia, conjunctivitis, sensorineural deafness and potentially life-threatening amyloidosis. The NLRP3/CIAS1 E311K mutation caused a heterogeneous phenotype of MWS in a large family. ...

Last Updated: 27 Mar 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Muckle-Wells syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

[Biological and clinical aspects of Muckle-Wells syndrome].
 

Author(s): Tetsuo Kubota, Ryuji Koike

Journal: Nihon Rinsho Meneki Gakkai Kaishi. 2007 Apr;30(2):114-22.

 

Muckle-Wells syndrome (MWS), as well as familial cold autoinflammatory syndrome (FCAS) and chronic infantile neurological cutaneous and articular syndrome (CINCA), arises from a missense mutation in the CIAS1 gene. Current progress of biology revealed that NALP3, a protein coded by ...

Last Updated: 2 May 2007

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease
 

Status: Recruiting

Condition Summary: Cryopyrin-associated Periodic Syndromes; Familial Cold Autoinflammatory Syndrome; Muckle-Wells Syndrome; Neonatal Onset Multisystem Inflammatory Disease

 

Last Updated: 4 Jun 2014

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Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
 

Status: Recruiting

Condition Summary: Periodic Disease

 

Last Updated: 14 Mar 2014

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Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) Patients
 

Status: Recruiting

Condition Summary: Cryopyrin-associated Periodic Syndromes (CAPS); Familial Cold Autoinflam Syn (FCAS); Muckle-wells Syn (MWS); Neonatal Onset Multisystem Inflam Disease (NOMID)

 

Last Updated: 6 Mar 2014

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