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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Pyle disease


Other Names for this Disease

  • Metaphyseal dysplasia
  • Metaphyseal dysplasia Pyle type
  • Pyle's disease
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Inheritance

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Is Pyle disease inherited?

Pyle disease in inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.[1][2] The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they often don't have any signs and symptoms of the condition. Some carriers (obligate heterozygotes) of Pyle disease show minor skeletal changes.[2]
Last updated: 9/16/2013

References
  1. Pyle disease. Orphanet. June 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3005. Accessed 9/16/2013.
  2. Gupta N, Kabra M, Das CJ, Gupta AK. Pyle Metaphyseal Dysplasia. Indian Pediatrics. April 17, 2008; http://www.indianpediatrics.net/apr2008/323.pdf . Accessed 9/16/2013.


Other Names for this Disease
  • Metaphyseal dysplasia
  • Metaphyseal dysplasia Pyle type
  • Pyle's disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.