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Neurofibromatosis type 1
Other Names for this Disease
- Recklinghausen's disease
- Type 1 neurofibromatosis
- Von Recklinghausen disease
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NF1 gene cause neurofibromatosis type 1. This condition is considered to have an autosomal dominant pattern of inheritance.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
Last updated: 11/9/2011
- Neurofibromatosis type 1 . Genetic Home Reference Website. March 2007; http://ghr.nlm.nih.gov/condition=neurofibromatosistype1. Accessed 3/18/2011.
- 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. Click on the link to view this information.
- 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. 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 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.
- 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.
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.