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Diseases

Genetic and Rare Diseases Information Center (GARD)

Neurofibromatosis type 2


Other Names for this Disease
  • NF2
  • Neurofibromatosis central type
  • Acoustic schwannomas bilateral
  • Bilateral acoustic neurofibromatosis
  • Acoustic neurinoma bilateral
Related Diseases
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Overview

Neurofibromatosis type 2 (NF2) is a disorder characterized by the growth of noncancerous tumors of the nervous system. Almost all people affected by NF2 develop bilateral (affecting both sides) vestibular schwannomas by age 30 years; however, other tumors of the central nervous system (the brain and spinal cord) are common, as well. The signs and symptoms vary from person to person and generally depend on the size, location and number of tumors. NF2 is caused by changes (mutations) in the NF2 gene and is inherited in an autosomal dominant manner. In approximately half of cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene; these cases occur in people with no history of the disorder in their family. The treatment is based the signs and symptoms present in each person.[1][2][3]
Last updated: 7/21/2015

References

  1. D Gareth Evans, MD, FRCP. Neurofibromatosis 2. GeneReviews. August 2011; http://www.ncbi.nlm.nih.gov/books/NBK1201/#nf2.Clinical_Description.
  2. D Gareth Evans, MD, FRCP. Neurofibromatosis type 2. UpToDate. April 2015; Accessed 7/21/2015.
  3. David T Hsieh, MD. Neurofibromatosis Type 2. Medscape Reference. October 2014; http://emedicine.medscape.com/article/1178283-overview.
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Basic Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on Neurofibromatosis type 2. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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 Neurofibromatosis type 2. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • NF2
  • Neurofibromatosis central type
  • Acoustic schwannomas bilateral
  • Bilateral acoustic neurofibromatosis
  • Acoustic neurinoma bilateral
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.