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Diseases

Genetic and Rare Diseases Information Center (GARD)

Osteopetrosis autosomal recessive 7


Other Names for this Disease
  • OPTB7
  • Autosomal recessive osteopetrosis type 7
  • Osteopetrosis osteoclast-poor with hypogammaglobulinemia
  • Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
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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

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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 Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Osteopetrosis autosomal recessive 7. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • OPTB7
  • Autosomal recessive osteopetrosis type 7
  • Osteopetrosis osteoclast-poor with hypogammaglobulinemia
  • Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.