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Neurofibromatosis type 1
Other Names for this Disease
- NF1
- Recklinghausen's disease
- Type 1 neurofibromatosis
- Von Recklinghausen disease
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Overview
Neurofibromatosis type 1 (NF1) is an inherited condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people. Mutations in the NF1 gene cause neurofibromatosis type 1. This condition is considered to have an autosomal dominant pattern of inheritance.[1]
References
- Neurofibromatosis type 1 . Genetic Home Reference Website. http://ghr.nlm.nih.gov/condition=neurofibromatosistype1. Accessed March 18, 2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center8 question(s) from the public on Neurofibromatosis type 1 have been answered. See questions and answers. You can also submit a new question.
On this page
General 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. Click on the link to view the information.
- Genetics Home Reference (GHR) contains information on Neurofibromatosis type 1. Click on the link to go to GHR and review the information.
- MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
- Medscape Reference provides information on this topic. Click on the link to view this information. 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 National Cancer Institute (CIS) provides the most current information on cancer for patients, health professionals, and the general public. You can reach them by calling toll-free at 1-800-422-6237 or by visiting their Web site.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Neurofibromatosis type 1. Click on the link to go to OMIM and review these resources.
Selected Full-Text Journal Articles
- Hersh JH. Health Supervision for Children With Neurofibromatosis. Pediatrics. 2008. Mar;121(3): 633-42.
- Ferner RE. Neurofibromatosis 1. Eur J Hum Genet. 2007 Feb;15(2):131-8.