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

[Magnetic resonance imaging study on undefined bright objects in the brain tissue of children with neurofibromatosis type 1].
 

Author(s): Wei-Hua Liao, Meng-Hui Liu, Jian-Ling Liu, Chang-Qing Chen, Wei Shi, Wu Xing, Fang-Fang Xie, Xiao-Yi Wang

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2015 Aug;17(8):873-6.

 

Last Updated: 20 Aug 2015

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In vitro modeling of hyperpigmentation associated to neurofibromatosis type 1 using melanocytes derived from human embryonic stem cells.
 

Author(s): Jennifer Allouche, Nathalia Bellon, Manoubia Saidani, Laure Stanchina-Chatrousse, Yolande Masson, Anand Patwardhan, Floriane Gilles-Marsens, Cédric Delevoye, Sophie Domingues, Xavier Nissan, Cécile Martinat, Gilles Lemaitre, Marc Peschanski, Christine Baldeschi

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2015 Jul;112(29):9034-9.

 

"Café-au-lait" macules (CALMs) and overall skin hyperpigmentation are early hallmarks of neurofibromatosis type 1 (NF1). One of the most frequent monogenic diseases, NF1 has subsequently been characterized with numerous benign Schwann cell-derived tumors. It is well established that ...

Last Updated: 22 Jul 2015

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[Neurofibromatosis type 1. Splicing mutation detected by MLPA and DNA sequencing in Argentina].
 

Author(s): Sergio Laurito, José Di Pierri, María Roqué

Journal: Medicina (B Aires). 2015 ;75(2):91-4.

 

Neurofibromatosis type 1 (NF1) is a dominant autosomic genetic disorder, with a birth incidence of 1 in 2500-3000. Diagnosis is difficult because of the size of gene NF1 that has few hot-spots sites, the absence of a clear genotype-phenotype relation, and a heterogeneous clinical ...

Last Updated: 29 Apr 2015

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

Breast cancer associated with neurofibromatosis type 1: a case series and review of the literature.
 

Author(s): Jihane Khalil, Mohamed Afif, Hanan Elkacemi, Meryem Benoulaid, Tayeb Kebdani, Noureddine Benjaafar

Journal:

 

Neurofibromatosis type 1, also known as Von Recklinghausen's disease, is a rare neuroectodermal disease that mainly affects the skin and the nervous system. Patients with neurofibromatosis type 1 have a higher risk of developing various types of cancers, especially tumors derived ...

Last Updated: 19 Apr 2015

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Targeted therapy for hereditary cancer syndromes: neurofibromatosis type 1, neurofibromatosis type 2, and Gorlin syndrome.
 

Author(s): Rishi Agarwal, Sarah Liebe, Michelle L Turski, Smruti J Vidwans, Filip Janku, Ignacio Garrido-Laguna, Javier Munoz, Richard Schwab, Jordi Rodon, Razelle Kurzrock, Vivek Subbiah,

Journal: Discov Med. 2014 Dec;18(101):323-30.

 

Hereditary cancer syndromes are well known in the oncology community, typically affecting children, adolescents, and young adults and thereby resulting in great cumulative morbidity and mortality. These syndromes often lag behind their de novo counterparts in the development of approved ...

Last Updated: 31 Dec 2014

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Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.
 

Author(s): Anna Abramowicz, Monika Gos

Journal: Dev Period Med. ;18(3):297-306.

 

Neurofibromatosis type I (NF1) is a disease associated with the presence of benign neurofibromas and malignant tumours of the central and peripheral nervous system, that are accompanied by characteristic changes in the skin, such as café-au-lait spots or axillary freckling. In 50% ...

Last Updated: 3 Sep 2014

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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: 7 Dec 2015

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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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Neuropsychological Impairment and Quality of Life in Neurofibromatosis Type 1
 

Status: Recruiting

Condition Summary: Neurofibromatosis Type 1

 

Last Updated: 10 Jul 2015

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