Rare Cardiology News

Disease Profile

Muckle-Wells syndrome

Prevalence
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

ageofonset-childhood.svg

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

rnn-autosomaldominant.svg

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

no.svg

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.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

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.

no.svg

Not applicable

no.svg

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 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]

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 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
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 protein level
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
Autosomal dominant inheritance
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 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

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

    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

        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

              References

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