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Diseases

Genetic and Rare Diseases Information Center (GARD)

Neurofibromatosis type 1


Other Names for this Disease
  • NF1
  • Type 1 neurofibromatosis
  • Recklinghausen's disease
  • 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 an inherited condition characterized primarily by changes in skin color and the growth of benign tumors along the nerves of the skin, brain, and other parts of the body. The severity and specific features can vary greatly from person to person.[1][2] NF1 belongs to a group of related conditions called the RASopathies. These conditions have some overlapping features and are all caused by genetic changes that disrupt the body's RAS pathway, affecting growth and development.[3] NF1 is caused by changes (mutations) in the NF1 gene and is inherited in an autosomal dominant manner. In about 50% of cases, it is inherited from an affected parent. Other cases result from a new (de novo) mutation, occurring for the first time in people with no family history of NF1.[1][2] Treatment is based on the signs and symptoms present in each person.[1][4]
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. Rauen KA. The RASopathies. Annu Rev Genomics Hum Genet. 2013; 14:355-369. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4115674/.
  4. Bruce R Korf, MD, PhD. Neurofibromatosis type 1 (NF1): Management and prognosis. UpToDate. March 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) 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 1. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • NF1
  • Type 1 neurofibromatosis
  • Recklinghausen's disease
  • 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.