Neurofibromatosis-Noonan syndrome

Common Name(s)

Neurofibromatosis-Noonan syndrome

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Neurofibromatosis-Noonan syndrome" for support, advocacy or research.

RASopathies Network USA

To foster research and development in medicine, science and technology, to promote the health of and assist individuals and families affected by diseases and/or genetic syndromes of the Ras/MAP kinase pathway.

Last Updated: 6 Feb 2014

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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-Noonan syndrome" for support, advocacy or research.

RASopathies Network USA

To foster research and development in medicine, science and technology, to promote the health of and assist individuals and families affected by diseases and/or genetic syndromes of the Ras/MAP kinase pathway.

http://rasopathiesnet.org

Last Updated: 6 Feb 2014

View Details

 

General Support Organizations

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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-Noonan syndrome" returned 4 free, full-text research articles on human participants. First 3 results:

Neurofibromatosis-Noonan syndrome: case report and clinicopathogenic review of the Neurofibromatosis-Noonan syndrome and RAS-MAPK pathway.
 

Author(s): Irela Reig, Pablo Boixeda, Beatriz Fleta, Carmen Morenoc, Lucía Gámez, Mayte Truchuelo

Journal:

 

Neurofibromatosis-Noonan syndrome is an entity that combines both features of Noonan syndrome and Neurofibromatosis type 1. This phenotypic overlap can be explained by the involvement of the RAS-MAPK pathway (mitogen-activated protein kinase) in both disorders. We report the case ...

Last Updated: 9 May 2011

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NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
 

Author(s): Alessandro De Luca, Irene Bottillo, Anna Sarkozy, Claudio Carta, Cinzia Neri, Emanuele Bellacchio, Annalisa Schirinzi, Emanuela Conti, Giuseppe Zampino, Agatino Battaglia, Silvia Majore, Maria M Rinaldi, Massimo Carella, Bruno Marino, Antonio Pizzuti, Maria Cristina Digilio, Marco Tartaglia, Bruno Dallapiccola

Journal: Am. J. Hum. Genet.. 2005 Dec;77(6):1092-101.

 

Neurofibromatosis type 1 (NF1) demonstrates phenotypic overlap with Noonan syndrome (NS) in some patients, which results in the so-called neurofibromatosis-Noonan syndrome (NFNS). From a genetic point of view, NFNS is a poorly understood condition, and controversy remains as to whether ...

Last Updated: 28 Dec 2005

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Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma.
 

Author(s): M S Tullu, M N Muranjan, V C Kantharia, R C Parmar, D R Sahu, S B Bavdekar, B A Bharucha

Journal: J Postgrad Med. ;46(2):98-100.

 

Neurofibromatosis (NF), Noonan syndrome (NS), and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself. Rarely, one encounters cases with features of NF and NS and is termed as the 'Neurofibromatosis-Noonan syndrome' (NF-NS). The ...

Last Updated: 11 Dec 2000

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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-Noonan syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.