Learn About Ollier Disease

What is the definition of Ollier Disease?

Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures.

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What are the causes of Ollier Disease?

In most people with Ollier disease, the disorder is caused by mutations in the IDH1 or IDH2 gene. These genes provide instructions for making enzymes called isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2, respectively. These enzymes convert a compound called isocitrate to another compound called 2-ketoglutarate. This reaction also produces a molecule called NADPH, which is necessary for many cellular processes. IDH1 or IDH2 gene mutations cause the enzyme produced from the respective gene to take on a new, abnormal function. Although these mutations have been found in some cells of enchondromas in people with Ollier disease, the relationship between the mutations and the signs and symptoms of the disorder is not well understood.

How prevalent is Ollier Disease?

Ollier disease is estimated to occur in 1 in 100,000 people.

Is Ollier Disease an inherited disorder?

Ollier disease is not inherited. The mutations that cause this disorder are somatic, which means they occur during a person's lifetime. A somatic mutation occurs in a single cell. As that cell continues to grow and divide, the cells derived from it also have the same mutation. In Ollier disease, the mutation is thought to occur in a cell during early development before birth; cells that arise from that abnormal cell have the mutation, while the body's other cells do not. This situation is called mosaicism.

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What are the latest Ollier Disease Clinical Trials?
Registry of Ollier Disease and Maffucci Syndrome That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Quality of Life Data. Data Are Linked to Patients Biological Sample

Summary: REM is a retrospective and prospective registry, finalized to care and research. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains: personal information, clinical data, genetic data, genealogical data, surgeries, etc.. This approach has been individuated in order to corroborate and integrate data from different reso...

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Exploring Resilience and Coping Strategies of Young Population in Response to Severe Acute Respiratory Syndrome Corona Virus 2 (SARS-CoV-2) Outbreak: a Longitudinal Study in a Cohort of Patients Affected by Rare Skeletal Disorders.

Summary: In the COVID-19 outbreak context, people living with rare diseases have been highly troubled with anxiety, loneliness, and depression. The project evaluates resilience and coping strategies to address pandemic impact by discussion in a dedicated focus group using a web-based platform. The goal is to improve, in a sustainable manner, the coping skills and psychological well-being of children, adole...

Who are the sources who wrote this article ?

Published Date: February 01, 2016Published By: National Institutes of Health

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