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

Neurofibromatosis type 1 and cardiac manifestations.
 

Author(s): Faruk İncecik, Özlem M Hergüner, Sevcan Alınç Erdem, Şakir Altunbaşak

Journal: Turk Kardiyol Dern Ars. 2015 Dec;43(8):714-6.

 

Cardiac manifestations of neurofibromatosis type 1 (NF1) may include hypertension, congenital heart disease, and hypertrophic cardiomyopathy. The aim of this study was to evaluate cardiac abnormalities in patients with NF1.

Last Updated: 31 Dec 2015

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Life-threatening Duodenal Ulcer Bleeding from a Ruptured Gastroduodenal Artery Aneurysm in a Patient with Neurofibromatosis Type 1.
 

Author(s): Kyu Sung Im, Sunyong Kim, Jun Uk Lim, Jung Won Jeon, Hyun Phil Shin, Jae Myung Cha, Kwang Ro Joo, Joung Il Lee, Jae Jun Park

Journal: Korean J Gastroenterol. 2015 Sep;66(3):164-7.

 

Vasculopathy is rarely reported in neurofibromatosis type 1, but when it occurs it primarily involves the aorta and its main branches. Among vasculopathies, aneurysmal dilatation is the most common form. Although several case reports concerning aneurysms or pseudoaneurysms of visceral ...

Last Updated: 21 Sep 2015

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

[Congenital glaucoma and neurofibromatosis type 1].
 

Author(s): Nazih Tzili, Hamza El Orch, Fatiha Bencherifa, Mohammed Charif Chefchaouni, El Hassan Abdallah, Amina Berraho

Journal:

 

Last Updated: 25 Sep 2015

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Multimodal Imaging in Neurofibromatosis Type 1-associated Nerve Sheath Tumors.
 

Author(s): J Salamon, V F Mautner, G Adam, T Derlin

Journal: Rofo. 2015 Dec;187(12):1084-92.

 

Neurofibromatosis type 1 (NF1) is a neurogenetic disorder. Individuals with NF1 may develop a variety of benign and malignant tumors of which peripheral nerve sheath tumors represent the most frequent entity. Plexiform neurofibromas may demonstrate a locally destructive growth pattern, ...

Last Updated: 14 Nov 2015

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Skeletal muscle and motor deficits in Neurofibromatosis Type 1.
 

Author(s): M A Summers, K G Quinlan, J M Payne, D G Little, K N North, A Schindeler

Journal: J Musculoskelet Neuronal Interact. 2015 Jun;15(2):161-70.

 

Neurofibromatosis Type 1 (NF1) is a genetic neurocutaneous disorder with multisystem manifestations, including a predisposition to tumor formation and bone dysplasias. Studies over the last decade have shown that NF1 can also be associated with significant motor deficits, such as ...

Last Updated: 2 Jun 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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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Neurofibromatosis Type 1 Patient Registry
 

Status: Recruiting

Condition Summary: Neurofibromatosis Type 1

 

Last Updated: 7 Dec 2015

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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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