Noonan syndrome 2

Common Name(s)

Noonan syndrome 2

Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Characteristics of the syndrome include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes.  It is sometimes referred to as a specific subtype based on the specific, mutated gene that causes the syndrome in an affected individual. It is typically inherited in an autosomal dominant manner, although in many individuals with Noonan syndrome, the mutation occurs for the first time and neither of the parents has the condition.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Noonan syndrome 2" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Noonan syndrome 2" returned 5 free, full-text research articles on human participants. First 3 results:

Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.
 

Author(s): Simone Martinelli, Aurelio P Nardozza, Silvia Delle Vigne, Gilda Sabetta, Paola Torreri, Gianfranco Bocchinfuso, Elisabetta Flex, Serenella Venanzi, Antonio Palleschi, Bruce D Gelb, Gianni Cesareni, Lorenzo Stella, Luisa Castagnoli, Marco Tartaglia

Journal: J. Biol. Chem.. 2012 Aug;287(32):27066-77.

 

Activating mutations in PTPN11 cause Noonan syndrome, the most common nonchromosomal disorder affecting development and growth. PTPN11 encodes SHP2, an Src homology 2 (SH2) domain-containing protein-tyrosine phosphatase that positively modulates RAS function. Here, we characterized ...

Last Updated: 6 Aug 2012

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Role of ERK1/2 signaling in congenital valve malformations in Noonan syndrome.
 

Author(s): Maike Krenz, James Gulick, Hanna E Osinska, Melissa C Colbert, Jeffery D Molkentin, Jeffrey Robbins

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2008 Dec;105(48):18930-5.

 

Noonan syndrome (NS) is the most common nonchromosomal genetic disorder associated with cardiovascular malformations. The most prominent cardiac defects in NS are pulmonary valve stenosis and hypertrophic cardiomyopathy. Gain-of-function mutations in the protein tyrosine phosphatase ...

Last Updated: 3 Dec 2008

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Noonan syndrome-associated SHP-2/Ptpn11 mutants enhance SIRPalpha and PZR tyrosyl phosphorylation and promote adhesion-mediated ERK activation.
 

Author(s): Seda Eminaga, Anton M Bennett

Journal: J. Biol. Chem.. 2008 May;283(22):15328-38.

 

Noonan syndrome (NS) is an autosomal dominant disorder that is associated with multiple developmental abnormalities. Activated mutations of the protein-tyrosine phosphatase, SHP-2/PTPN11, have been reported in approximately 50% of NS cases. Despite being activated, NS-associated SHP-2 ...

Last Updated: 26 May 2008

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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 "Noonan syndrome 2" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 2 Jan 2014

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