Rare Oncology News

Disease Profile

Cogan’s 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

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ICD-10

H16.3

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

Cogan syndrome

Summary

Cogan syndrome is a rare autoimmune disease that affects the eyes and inner ears. Symptoms of the syndrome include irritation and pain in the eyes, decreased vision, hearing loss, and vertigo. Other symptoms may include joint or muscle pain or inflammation of the blood vessels.[1] 

The exact cause of Cogan syndrome is not well-understood. It is thought that the syndrome is caused by an autoimmune response that causes the immune system to attack the tissues of the eyes and ears. Cogan syndrome is not known to run in families.[2] Diagnosis of Cogan syndrome is based on observing symptoms associated with the syndrome and ruling out other possible causes of the symptoms. Treatment options generally include corticosteroids and immunosuppressive agents.[2] 

Symptoms

Cogan syndrome primarily affects the eyes and the inner ears. Symptoms of Cogan syndrome generally begin in adolescence to mid-adulthood. The first symptoms typically either affect only the inner ears or only the eyes but often progress to affect both the eyes and the ears. Symptoms affecting the eyes include redness, irritation and pain, excessive tear production, sensitivity to light (photophobia), and decreased vision. When the eyes are examined by an ophthalmologist, swelling of specific tissues of the eye (interstitial keratitis) may be identified.[1][3] Symptoms affecting the ears may include sensorineural hearing loss, ringing in the ears (tinnitus) and dizziness (vertigo).[1] 

Cogan syndrome can also affect the blood vessels. This can cause symptoms in other parts of the body including pain or cramping in the muscles (myalgia), fever, headache, diarrhea, and stomach pain. In some cases, people with Cogan syndrome may have a heart murmur or other heart problems.[1][2]

Cause

Cogan syndrome is an autoimmune disease, which means that it occurs when the immune system begins to attack the tissues of the body. This is called an autoimmune response. Specifically, the immune systems of people with Cogan syndrome begin to attack the tissues of the eyes and the inner ears. In some cases, the autoimmune response may also be directed against blood vessels.[1] The exact reason that people with Cogan syndrome have an autoimmune response against the tissues of the eyes and the inner ears is not well-understood.[2] For some people, it may be that symptoms of Cogan syndrome begin after an infection.[3][4]

Diagnosis

Cogan syndrome is diagnosed when a doctor observes signs and symptoms consistent with the syndrome. If Cogan syndrome is suspected, other diseases that may have similar signs and symptoms must be excluded. These diseases include syphilisLyme diseaseEpstein-Barr virus, and Meniere disease.[1][2] Laboratory tests to exclude other diseases may include blood testsurinalysis, and studies to analyze liver function.[2] In some cases, blood tests for a specific antibody related to Cogan syndrome may be completed.[2][3]

If a diagnosis of Cogan syndrome is suspected, it is suggested that the affected individual see an ophthalmologist and otolaryngologist to determine if there are other symptoms consistent with Cogan syndrome.[2]

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

    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.

      In-Depth Information

      • 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.
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

        References

        1. Roat MI. Cogan Syndrome. Merck Manuals. December 2016; https://www.merckmanuals.com/professional/eye-disorders/corneal-disorders/cogan-syndrome.
        2. Cimaz R and Lega JC. Cogan syndrome. Orphanet. October 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1467.
        3. Hain TC. Cogan’s Syndrome. American Hearing Research Foundation. October 2012; https://american-hearing.org/disorders/cogans-syndrome/.
        4. Greco A, Gallo A, Fusconi M, Magliulo G, Turchetta R, Marinelli C, Macri GF, De Virgilio A, and de Vincentiis M. Cogan’s syndrome: An autoimmune inner ear disease. Autoimmunity Reviews. January 2013; 12(3):396-400. https://www.ncbi.nlm.nih.gov/pubmed/22846458.
        5. McCallum R and St. Clair EW. Cogan’s syndrome. The Vasculitis Foundation. March 2013; https://www.vasculitisfoundation.org/mcm_article/cogans-syndrome/.

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