Neurofibromatosis type 1

Common Name(s)

Neurofibromatosis type 1, Neurofibromatosis 1 (NF1), Von Recklinghausen Disease

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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Neurofibromatosis type 1" for support, advocacy or research.

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Children's Tumor Foundation, Inc.

Funds research, patient support and public awareness of the neurofibromatoses (NF1, NF2, and Schwannomatosis) - genetic disorders that cause random tumor growth throughout the body.

Last Updated: 14 Jan 2013

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Littlest Tumor Foundation

The Littlest Tumor Foundation is a nonprofit organization dedicated to finding preventative therapies and threatment for tumor growth in children and providing wellness scholarships to families dealing with Neurofibromatosis (NF). Our mission is to increase understanding of NF, to empower families dealing with the disorder, and to continue research of preventative therapies.

Last Updated: 4 Feb 2013

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Neurofibromatosis Mid-Atlantic

Neurofibromatosis Mid-Atlantic is a non profit organization dedicated to helping people with Neurofibromatosis and their loved ones make sense of the complex medical disorder. We provide reliable, complete, and up to date information about Neurofibromatosis. We provide education, support, and community. There is no charge for our services.

Last Updated: 22 Dec 2012

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Neurofibromatosis, Inc., Northeast

Our mission is to find treatments and the cure for neurofibromatosis by promoting scientific research, creating awareness, and providing hope and support to those who are affected by NF.

Last Updated: 5 May 2014

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NF Network

Neurofibromatosis, Inc., now the NF Network, is a national, tax-exempt, charitable organization whose mission is to find treatments and a cure for neurofibromatosis by promoting scientific research, improving clinical care, providing outreach through education and awareness, while offering hope and support to those affected by NF.

Last Updated: 11 Mar 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Neurofibromatosis type 1" for support, advocacy or research.

Logo
Children's Tumor Foundation, Inc.

Funds research, patient support and public awareness of the neurofibromatoses (NF1, NF2, and Schwannomatosis) - genetic disorders that cause random tumor growth throughout the body.

https://www.ctf.org

Last Updated: 14 Jan 2013

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Littlest Tumor Foundation

The Littlest Tumor Foundation is a nonprofit organization dedicated to finding preventative therapies and threatment for tumor growth in children and providing wellness scholarships to families dealing with Neurofibromatosis (NF). Our mission is to increase understanding of NF, to empower families dealing with the disorder, and to continue research of preventative therapies.

http://www.littlesttumor.org

Last Updated: 4 Feb 2013

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Neurofibromatosis Mid-Atlantic

Neurofibromatosis Mid-Atlantic is a non profit organization dedicated to helping people with Neurofibromatosis and their loved ones make sense of the complex medical disorder. We provide reliable, complete, and up to date information about Neurofibromatosis. We provide education, support, and community. There is no charge for our services.

http://www.nfmidatlantic.org

Last Updated: 22 Dec 2012

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Neurofibromatosis, Inc., Northeast

Our mission is to find treatments and the cure for neurofibromatosis by promoting scientific research, creating awareness, and providing hope and support to those who are affected by NF.

http://www.nfincne.org

Last Updated: 5 May 2014

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NF Network

Neurofibromatosis, Inc., now the NF Network, is a national, tax-exempt, charitable organization whose mission is to find treatments and a cure for neurofibromatosis by promoting scientific research, improving clinical care, providing outreach through education and awareness, while offering hope and support to those affected by NF.

http://www.nfnetwork.org

Last Updated: 11 Mar 2013

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General Support Organizations

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General Resources

Understanding Neurofibromatosis

Booklet for individuals who have been recently diagnosed with NF.

Uploaded By: NF Network

Updated 11 Mar 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Neurofibromatosis type 1" returned 336 free, full-text research articles on human participants. First 3 results:

[Myxedema coma in a patient with type 1 neurofibromatosis: rare association].
 

Author(s): Denise Tieko Sasazawa, Daniela Miti Tsukumo, Cristina Alba Lalli

Journal: Arq Bras Endocrinol Metabol. 2013 Dec;57(9):743-7.

 

Myxedema coma, a rare but fatal emergency, is an extreme expression of hypothyroidism. We describe a 51-year-old male patient who has discontinued hypothyroidism treatment 10 months earlier and developed lethargy, edema, and cold intolerance symptoms. He also had a previous diagnosis ...

Last Updated: 9 Jan 2014

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Lovastatin improves impaired synaptic plasticity and phasic alertness in patients with neurofibromatosis type 1.
 

Author(s): Florian Mainberger, Nikolai H Jung, Martin Zenker, Ute Wahlländer, Leonie Freudenberg, Susanne Langer, Steffen Berweck, Tobias Winkler, Andreas Straube, Florian Heinen, Sofia Granström, Victor-Felix Mautner, Karen Lidzba, Volker Mall

Journal:

 

Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders causing learning disabilities by mutations in the neurofibromin gene, an important inhibitor of the RAS pathway. In a mouse model of NF1, a loss of function mutation of the neurofibromin gene resulted in increased ...

Last Updated: 15 Nov 2013

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Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1.
 

Author(s): Stephen E Hamby, Pablo Reviriego, David N Cooper, Meena Upadhyaya, Nadia Chuzhanova

Journal:

 

Neurofibromatosis type 1 (NF1), a neuroectodermal disorder, is caused by germline mutations in the NF1 gene. NF1 affects approximately 1/3,000 individuals worldwide, with about 50% of cases representing de novo mutations. Although the NF1 gene was identified in 1990, the underlying ...

Last Updated: 22 Aug 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Neurofibromatosis type 1" returned 27 free, full-text review articles on human participants. First 3 results:

[Neurofibromatosis type 1 - description of clinical features and molecular mechanism of the disease].
 

Author(s): Barbara Bikowska-Opalach, Teresa Jackowska

Journal: Med Wieku Rozwoj. ;17(4):334-40.

 

Neurofibromatosis type 1 (NF1) called also von Recklinghausen's disease is an autosomal dominant genetic disorder with a  complex clinical course. Clinical signs and symptoms concern mainly skin (with pigmentation abnormalities- café au lait macules, axillary/groin freckling and ...

Last Updated: 12 Feb 2014

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Survival meta-analyses for >1800 malignant peripheral nerve sheath tumor patients with and without neurofibromatosis type 1.
 

Author(s): Matthias Kolberg, Maren Høland, Trude H Agesen, Helge R Brekke, Knut Liestøl, Kirsten S Hall, Fredrik Mertens, Piero Picci, Sigbjørn Smeland, Ragnhild A Lothe

Journal: Neuro-oncology. 2013 Feb;15(2):135-47.

 

There are conflicting reports as to whether malignant peripheral nerve sheath tumor (MPNST) patients with neurofibromatosis type 1 (NF1) have worse prognosis than non-NF1 MPNST patients. Large clinical studies to address this problem are lacking due to the rareness of MPNST. We have ...

Last Updated: 21 Jan 2013

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Gastrointestinal manifestations of neurofibromatosis type 1 (Recklinghausen's disease): clinicopathological spectrum with pathogenetic considerations.
 

Author(s): Abbas Agaimy, Nikolaos Vassos, Roland S Croner

Journal: Int J Clin Exp Pathol. 2012 ;5(9):852-62.

 

Neurofibromatosis type 1 (NF-1, Recklinghausen disease) is the most common hereditary multitumor syndrome with an incidence at birth of approximately 1:3000. However, the significant variation in the expression of the disease not infrequently precludes early diagnosis. As a consequence ...

Last Updated: 2 Nov 2012

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Clinical Trial Information This information is provided by ClinicalTrials.gov

AZD6244 Hydrogen Sulfate for Children With Nervous System Tumors
 

Status: Recruiting

Condition Summary: Neurofibromatosis 1; Neurofibromatosis Type 1; NF 1; Neurofibroma, Plexiform

 

Last Updated: 14 Mar 2014

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Vitamin D Supplementation for Adults With Neurofibromatosis Type 1 (NF1)
 

Status: Not yet recruiting

Condition Summary: Neurofibromatosis Type 1 (NF1)

 

Last Updated: 19 Oct 2013

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Multi-Center Project: Spinal Abnormalities in Neurofibromatosis Type1 (NF1) Patients
 

Status: Recruiting

Condition Summary: Neurofibromatosis Type 1

 

Last Updated: 24 Apr 2008

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