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Diseases

Genetic and Rare Diseases Information Center (GARD)

Camurati-Engelmann disease


Other Names for this Disease
  • CED
  • Diaphyseal dysplasia 1, progressive
  • DPD1
  • Engelmann disease
  • Progressive diaphyseal dysplasia
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Inheritance

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How is Camurati-Engelmann disease inherited?

Camurati-Engelmann disease is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition.[1][2][3]

In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation.

When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.
Last updated: 3/15/2016

References
  1. Camurati-Engelmann disease. Genetics Home Reference. April 2008; http://ghr.nlm.nih.gov/condition=camuratiengelmanndisease.
  2. Camurati-Engelmann disease. Orphanet. November 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1328.
  3. Stephanie E Wallace, William R Wilcox. Camurati-Engelmann Disease. GeneReviews. March 5, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1156/.


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