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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Camurati-Engelmann disease


Other Names for this Disease

  • CED
  • Diaphyseal dysplasia 1, progressive
  • DPD1
  • Engelmann disease
  • PDD
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Cause

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What causes Camurati-Engelmann disease?

Mutations in the TGFB1 gene cause Camurati-Engelmann disease. The TGFB1 gene provides instructions for producing a protein called transforming growth factor beta-1 (TGFβ-1). The TGFβ-1 protein helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (motility), and the self-destruction of cells (apoptosis). The TGFβ-1 protein is found throughout the body and plays a role in development before birth, the formation of blood vessels, the regulation of muscle tissue and body fat development, wound healing, and immune system function. TGFβ-1 is particularly abundant in tissues that make up the skeleton, where it helps regulate bone growth, and in the intricate lattice that forms in the spaces between cells (the extracellular matrix).[1]

Within cells, the TGFβ-1 protein is turned off (inactive) until it receives a chemical signal to become active. The TGFB1 gene mutations that cause Camurati-Engelmann disease result in the production of a TGFβ-1 protein that is always turned on (active). Overactive TGFβ-1 proteins lead to increased bone density and decreased body fat and muscle tissue, contributing to the signs and symptoms of Camurati-Engelmann disease.[1]

Some individuals with Camurati-Engelmnan disease do not have identified mutations in the TGFB1 gene. In these cases, the cause of the condition is unknown.[1]

Last updated: 8/1/2013

References
  1. Camurati-Engelmann disease. Genetics Home Reference. April 2008; http://ghr.nlm.nih.gov/condition=camuratiengelmanndisease. Accessed 4/17/2008.


Other Names for this Disease
  • CED
  • Diaphyseal dysplasia 1, progressive
  • DPD1
  • Engelmann disease
  • PDD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.