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Diseases

Genetic and Rare Diseases Information Center (GARD)

Ochronosis


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Overview

Ochronosis is the bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations. It often occurs in individuals with alkaptonuria, a metabolic disorder; it can also occasionally occur from exposure to various substances. Alkaptonuria is caused by a mutation in the HGD gene, which results in the accumulation and deposition of homogentisic acid (HGA) in cartilage, causing the characteristic coloring of ochronosis. The affected tissue becomes weak and brittle with time, leading to chronic inflammation, degeneration, and osteoarthritis. Alkaptonuria is inherited in an autosomal recessive manner. When ochronosis is due to exposure to substances (called exogenous ochronosis), the condition is not inherited.[1]
Last updated: 2/10/2011

References

  1. Craig G Burkhart, Craig N Burkhart. Ochronosis. eMedicine. April 9, 2010; http://emedicine.medscape.com/article/1104184-overview. Accessed 2/6/2011.
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Basic Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.

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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Ochronosis. Click on the link to view a sample search on this topic.
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.