Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Cohen syndrome


Other Names for this Disease
  • COH1
  • Pepper syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

Newline Maker

How is Cohen syndrome diagnosed?

The diagnosis of Cohen syndrome is based on the symptoms present in the patient, but because the symptoms vary greatly from person to person, no consensus diagnostic criteria exist. Genetic testing is available for COH1, the only gene known to be associated with Cohen syndrome. However, the rate at which mutations are detected via genetic testing varies by ethnicity. For example, the mutation detection rate in COH1 is higher among the Finnish and Old Amish compared to individuals of from other populations. [1]
Last updated: 3/21/2013

References
  1. Falk MJ, Wang H, Traboulsi EI. Cohen Syndrome. GeneReviews. March 2011; http://www.ncbi.nlm.nih.gov/books/NBK1482/. Accessed 3/21/2013.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • COH1
  • Pepper syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.