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

Malignant peripheral nerve sheath tumor with and without neurofibromatosis type 1.
 

Author(s): Roberto André Torres de Vasconcelos, Pedro Guimarães Coscarelli, Regina Papais Alvarenga, Marcus André Acioly

Journal: Arq Neuropsiquiatr. 2017 Jun;75(6):366-371.

 

In this study, we review the institution's experience in treating malignant peripheral nerve sheath tumors (MPNSTs). A secondary aim was to compare outcomes between MPNSTs with and without neurofibromatosis type 1 (NF1).

Last Updated: 28 Jun 2017

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Neurofibromatosis type 1 is not associated with subarachnoid haemorrhage.
 

Author(s): Arttu Kurtelius, Roope A Kallionpää, Jukka Huttunen, Terhi J Huttunen, Katariina Helin, Timo Koivisto, Juhana Frösen, Mikael von Und Zu Fraunberg, Sirkku Peltonen, Juha Peltonen, Juha E Jääskeläinen, Antti E Lindgren

Journal:

 

The prevalence of intracranial aneurysms (IAs) has been proposed to be elevated in the patients with neurofibromatosis type 1 (NF1). Our aims were to determine the prevalence of NF1 in a large Finnish population based cohort of IA patients and, on the other hand, the occurrences of ...

Last Updated: 2 Jun 2017

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Evidence of neurofibromatosis type 1 in a multi-morbid Inca child mummy: A paleoradiological investigation using computed tomography.
 

Author(s): Stephanie Panzer, Holger Wittig, Stephanie Zesch, Wilfried Rosendahl, Sandra Blache, Magdalena Müller-Gerbl, Gerhard Hotz

Journal:

 

In this study, an Inca bundle was examined using computed tomography (CT). The primary aim was to determine the preservation status of bony and soft tissues, the sex, the age at the time of death, possible indicators for disease or even the cause of death, as well as the kind of mummification. ...

Last Updated: 13 Apr 2017

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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 47 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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Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis.
 

Author(s): Jaishri O Blakeley, Scott R Plotkin

Journal: Neuro-oncology. 2016 May;18(5):624-38.

 

Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN) are tumor-suppressor syndromes. Each syndrome is an orphan disease; however, the tumors that arise within them represent the most common tumors of the nervous system worldwide. Systematic investigation ...

Last Updated: 3 Jun 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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Clinical Trial Information This information is provided by ClinicalTrials.gov

Hypotonia and Neurofibromatosis Type 1 (NF1) Glioma
 

Status: Recruiting

Condition Summary: Neurofibromatosis Type 1

 

Last Updated: 16 Mar 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: 13 Mar 2017

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Effect of Lamotrigine on Cognition in NF1
 

Status: Recruiting

Condition Summary: Neurofibromatosis Type 1

 

Last Updated: 22 Jun 2017

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