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Genetic and Rare Diseases Information Center (GARD)

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Osteopetrosis autosomal recessive 1


Other Names for this Disease

  • Autosomal recessive osteopetrosis type 1
  • Marble bones autosomal recessive
  • OPTB1
  • Osteopetrosis infantile malignant 1
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Overview

Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.[1]
Last updated: 11/14/2011

References

  1. Osteopetrosis. Genetics Home Reference. September 2010; http://ghr.nlm.nih.gov/condition/osteopetrosis. Accessed 11/14/2011.
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Basic Information

In Depth Information

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  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Osteopetrosis autosomal recessive 1. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Autosomal recessive osteopetrosis type 1
  • Marble bones autosomal recessive
  • OPTB1
  • Osteopetrosis infantile malignant 1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.