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Disease Profile
Muckle-Wells syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Childhood
ICD-10
E85.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Urticaria, deafness and amyloidosis; Urticaria-deafness-amyloidosis syndrome; UDA syndrome;
Categories
Congenital and Genetic Diseases; Immune System Diseases; Kidney and Urinary Diseases;
Summary
Muckle-Wells
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.
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 |
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 |
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 | |
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 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Vasculitis |
Inflammation of blood vessel
|
0002633 |
1%-4% of people have these symptoms | ||
Chronic fatigue |
Chronic extreme exhaustion
|
0012432 |
Clubbing of fingers |
Clubbed fingers
Clubbing (hands)
Finger clubbing
[ more ] |
0100759 |
Conjunctival hyperemia | 0030953 | |
Elevated C-reactive |
0011227 | |
Juvenile onset |
Signs and symptoms begin before 15 years of age
|
0003621 |
Maculopapular exanthema | 0040186 | |
Polyarticular arthritis | 0005764 | |
Recurrent fever |
Episodic fever
Increased body temperature, episodic
Intermittent fever
[ more ] |
0001954 |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Childhood onset |
Symptoms begin in childhood
|
0011463 |
Leukocytosis |
Elevated white blood count
High white blood count
Increased blood leukocyte number
[ more ] |
0001974 |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ] |
0000083 |
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 periodicsyndromes (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 IdiopathicArthritis (SJIA) in patients aged 2 through 16 years.
National Library of Medicine Drug Information Portal
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: [email protected]
Website: https://www.fmfandaid.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).
Organizations Providing General Support
-
Primary Immune Deficiency UK (PID UK)
PO Box 6970
Basingstoke, RG24 4XL United Kingdom
Toll-free: 0800 987 8986
E-mail: [email protected]
Website: https://www.piduk.org/
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.
- MedlinePlus Genetics 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.
References
- Dyall-Smith D. Muckle-Wells syndrome. DermNet NZ. 2011; https://www.dermnetnz.org/topics/muckle-wells-syndrome/.