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Diseases

Genetic and Rare Diseases Information Center (GARD)

Neurofibromatosis type 1


Other Names for this Disease
  • NF1
  • Recklinghausen's disease
  • Type 1 neurofibromatosis
  • Von Recklinghausen 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.

Overview

Neurofibromatosis type 1 (NF1) is a rare, inherited condition that is characterized primarily by changes in skin coloring and the development of multiple benign tumors along the nerves of the skin, brain, and other parts of the body. The severity of the condition and the associated signs and symptoms vary significantly from person to person. NF1 is caused by changes (mutations) in the NF1 gene and is inherited in an autosomal dominant manner. In approximately 50% of cases, the condition is inherited from an affected parent. Other cases may result from new (de novo) mutations in the gene which occur in people with no history of the condition in their family.[1][2] Treatment is based on the signs and symptoms present in each person.[1][3]
Last updated: 7/19/2015

References

  1. JM Friedman, MD, PhD. Neurofibromatosis 1. GeneReviews. September 2014; http://www.ncbi.nlm.nih.gov/books/NBK1109/.
  2. David T Hsieh, MD. Neurofibromatosis Type 1. Medscape Reference. December 2014; http://emedicine.medscape.com/article/1177266-overview.
  3. Bruce R Korf, MD, PhD. Neurofibromatosis type 1 (NF1): Management and prognosis. UpToDate. March 2015; Accessed 7/19/2015.
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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 1. 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) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
  • 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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

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.
  • 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 1. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • NF1
  • Recklinghausen's disease
  • Type 1 neurofibromatosis
  • Von Recklinghausen 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.