Neurofibromatosis

Información en español Title

Summary Summary

Neurofibromatosis (NF) is a genetic disease that causes tumors to develop in the nervous system.^[1] There are three types of neurofibromatosis that are each associated with unique signs and symptoms:^[1]^[2]^[3]

Neurofibromatosis type 1 (NF1) causes skin changes (cafe-au-lait spots, freckling in armpit and groin area); bone abnormalities; optic gliomas; and tumors on the nerve tissue or under the skin. Signs and symptoms are usually present at birth.

Neurofibromatosis type 2 (NF2) causes acoustic neuromas; hearing loss; ringing in the ears; poor balance; brain and/or spinal tumors; and cataracts at a young age. It often starts in the teen years.

Schwannomatosis causes schwannomas, pain, numbness, and weakness. It is the rarest type.

All three types of NF are inherited in an autosomal dominant manner. There is no cure for NF. Treatment is aimed at controlling symptoms and may include surgery to remove tumors, radiation therapy, and/or medicines.^[2]^[3]

Last updated: 2/16/2017

Inheritance Inheritance

Neurofibromatosis is inherited in an autosomal dominant manner.^[1] This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some 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. A person with neurofibromatosis has a 50% chance with each pregnancy of passing along the altered gene to his or her child.

Last updated: 7/27/2015

Treatment Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles on type 1 and type 2. These articles describe the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are studying or have studied Neurofibromatosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Neurofibromatosis Network
213 S. Wheaton Ave.
Wheaton, IL 60187
Toll-free: 800-942-6825
Telephone: 630-510-1115
Fax: 630-510-8505
E-mail: admin@nfnetwork.org
Website: http://www.nfnetwork.org/
The Children's Tumor Foundation
120 Wall Street, 16th floor
New York, NY 10005-3904
Toll-free: 800-323-7938
Telephone: 212-344-6633
Fax: 212-747-0004
E-mail: info@ctf.org/
Website: http://www.ctf.org/

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Healthcare Resources

The Neurofibromatosis Network provides a tool for locating a neurofibromatosis specialist in your area. Click on Neurofibromatosis Network to access the tool.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
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.

In-Depth Information

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.
The 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.
PubMed is a searchable database of medical literature and lists journal articles that discuss Neurofibromatosis. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Early-Phase Trial Demonstrates Shrinkage in Pediatric Neural Tumors
January 4, 2017
2016 Million Dollar Bike Ride Pilot Grant Program
August 15, 2016

NCATS Co-Sponsored Conferences

Developing Endpoints to Facilitate Clinical Trials in Rare Diseases Tuesday, November 17, 2015 - Friday, November 20, 2015
Location: Bethesda, MD
Description: The Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration holds a winter annual conference each year to develop and to discuss novel outcome measures for clinical trials of neurofibromatosis and schwannomatosis, a group of related tumor suppressor syndromes. The annual winter conference has been very successful in stimulating international collaboration among the many different specialists involved in the treatment of these rare conditions. The 2015 conference theme is to develop consensus-driven outcome measures for clinical trials in patients with rare disease such as neurofibromatosis and schwannomatosis.

Contact: Dr. Rashmi Gopal-Srivistava(301) 402-4336

Co-funding Institute(s):
Children's Tumor Foundation 2014 Neurofibromatosis (NF) Conference Saturday, June 7, 2014 - Tuesday, June 10, 2014
Location: Washington , D.C.
Description: In order to stimulate exchange between basic scientists and clinical investigators, a number of sessions will be organized to discuss preclinical models and findings side by side with clinical findings and current management in patients. The hope is that this exchange will promote the translation of preclinical findings into clinical trials. Moreover, invited speakers outside of the NF community will add to the scientific diversity and stimulate discussions and promote new collaborations.

Contact: Jill A. Morris, Ph.D.,(301) 496-5745jill.morris@nih.gov

Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research

Other Conferences

Neurofibromatoses and RASopathies: Their Management, Diagnosis, Current and Future Therapeutic Avenues
Monday, September 30, 2013 - Tuesday, October 01, 2013
Location: Radisson Blu Hotel, Cardiff, Wales
Description: This international meeting will provide a most comprehensive and up to date account of recent developments in this field. Internationally recognized experts from the UK, Europe and the USA will speak on neurofibromatoses and rasopathies. This meeting will be suitable for medical geneticists, oncologists, dermatologists, neurologists, endocrinologists, psychiatrists, molecular and cellular biologists, genetic counsellors and general practitioners.

Related Diseases Related Diseases

The following diseases are related to Neurofibromatosis. If you have a question about any of these diseases, you can contact GARD.

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