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 455 free, full-text research articles on human participants. First 3 results:

Face Transplant in an Advanced Neurofibromatosis Type 1 Patient.
 

Author(s): Łukasz Krakowczyk, Adam Maciejewski, Cezary Szymczyk, Krzysztof Oleś, Stanisław Półtorak

Journal:

 

BACKGROUND The human face is a one-of-a-kind structure with unique morphology, complexity, and function, in which different subunits are not even similar to other parts of the body. Therefore, extended complex deficits of the face are usually difficult to reconstruct, and autologous ...

Last Updated: 31 Jan 2017

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Activity of Selumetinib in Neurofibromatosis Type 1-Related Plexiform Neurofibromas.
 

Author(s): Eva Dombi, Andrea Baldwin, Leigh J Marcus, Michael J Fisher, Brian Weiss, AeRang Kim, Patricia Whitcomb, Staci Martin, Lindsey E Aschbacher-Smith, Tilat A Rizvi, Jianqiang Wu, Rachel Ershler, Pamela Wolters, Janet Therrien, John Glod, Jean B Belasco, Elizabeth Schorry, Alessandra Brofferio, Amy J Starosta, Andrea Gillespie, Austin L Doyle, Nancy Ratner, Brigitte C Widemann

Journal: N. Engl. J. Med.. 2016 12;375(26):2550-2560.

 

Background Effective medical therapies are lacking for the treatment of neurofibromatosis type 1-related plexiform neurofibromas, which are characterized by elevated RAS-mitogen-activated protein kinase (MAPK) signaling. Methods We conducted a phase 1 trial of selumetinib (AZD6244 ...

Last Updated: 28 Dec 2016

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High-Dose Intravenous Vitamin C Treatment of a Child with Neurofibromatosis Type 1 and Optic Pathway Glioma: A Case Report.
 

Author(s): Nina Mikirova, Ronald Hunnunghake, Ruth C Scimeca, Charles Chinshaw, Faryal Ali, Chris Brannon, Neil Riordan

Journal:

 

BACKGROUND In neurofibromatosis type 1 (NF1) disease, the loss of the tumor suppressor function of the neurofibromin gene leads to proliferation of neural tumors. In children, the most frequently identified tumor is the optic pathway glioma. CASE REPORT We describe the case of a 5-year-old ...

Last Updated: 24 Oct 2016

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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 46 free, full-text review articles on human participants. First 3 results:

Neurofibromatosis type 1 associated low grade gliomas: A comparison with sporadic low grade gliomas.
 

Author(s): Jelte Helfferich, Ronald Nijmeijer, Oebele F Brouwer, Maartje Boon, Annemarie Fock, Eelco W Hoving, Lisethe Meijer, Wilfred F A den Dunnen, Eveline S J M de Bont

Journal: Crit. Rev. Oncol. Hematol.. 2016 Aug;104():30-41.

 

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder, associated with a variable clinical phenotype including café-au-lait spots, intertriginous freckling, Lisch nodules, neurofibromas, optic pathway gliomas and distinctive bony lesions. NF1 is caused by a mutation in ...

Last Updated: 12 Jul 2016

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Optic glioma and precocious puberty in a girl with neurofibromatosis type 1 carrying an R681X mutation of NF1: case report and review of the literature.
 

Author(s): Mirjana Kocova, Elena Kochova, Elena Sukarova-Angelovska

Journal:

 

Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder with an extremely variable phenotype. In childhood NF1 can be associated with optic glioma and central precocious puberty; the latter is more common when the optic chiasm is affected. The mutational spectrum ...

Last Updated: 15 Dec 2015

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[Molecular diagnosis as a strategy for differential diagnosis and at early ages of neurofibromatosis type 1 (NF1)].
 

Author(s): Martha Gómez, Oriana Batista

Journal: Rev Med Chil. 2015 Oct;143(10):1320-30.

 

Neurofibromatosis type 1 (NF1), is a haploinsufficient and multisystemic disease, caused by inherited or sporadic mutations in the NF1 gene. Its incidence is one in 2,500 to 3,000 individuals, it has an autosomal dominant pattern of inheritance, high clinical variability, complete ...

Last Updated: 4 Dec 2015

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Neurofibromatosis Type 1 Patient Registry
 

Status: Recruiting

Condition Summary: Neurofibromatosis Type 1

 

Last Updated: 31 Oct 2016

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Hypotonia and Neurofibromatosis Type 1 (NF1) Glioma
 

Status: Recruiting

Condition Summary: Neurofibromatosis Type 1

 

Last Updated: 16 Feb 2017

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Efficacy of Computerized Cognitive Training and Stimulant Medication in Neurofibromatosis Type 1
 

Status: Recruiting

Condition Summary: Neurofibromatosis Type 1

 

Last Updated: 24 Oct 2016

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