Noonan Syndrome 1

Common Name(s)

Noonan Syndrome 1

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 1" for support, advocacy or research.

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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 1" returned 6 free, full-text research articles on human participants. First 3 results:

Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome.
 

Author(s): Tomoki Nakamura, Melissa Colbert, Maike Krenz, Jeffery D Molkentin, Harvey S Hahn, Gerald W Dorn, Jeffrey Robbins

Journal: J. Clin. Invest.. 2007 Aug;117(8):2123-32.

 

Noonan syndrome (NS) is an autosomal dominant disorder characterized by a wide spectrum of defects, which most frequently include proportionate short stature, craniofacial anomalies, and congenital heart disease (CHD). NS is the most common nonchromosomal cause of CHD, and 80%-90% ...

Last Updated: 2 Aug 2007

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Neurofibromatosis 1/Noonan syndrome associated with Hashimoto's thyroiditis and vitiligo.
 

Author(s): Başak Yalcin, Başak Yalcçin, Emine Tamer, Güneş Gür, Pinar Oztas, Muhterem Ustün Polat, Nuran Alli

Journal: Acta Derm. Venereol.. 2006 ;86(1):80-1.

 

Last Updated: 4 Apr 2006

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Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling.
 

Author(s): Maike Krenz, Katherine E Yutzey, Jeffrey Robbins

Journal: Circ. Res.. 2005 Oct;97(8):813-20.

 

The molecular pathways regulating valve development are only partially understood. Recent studies indicate that dysregulation of mitogen-activated protein kinase (MAPK) signaling might play a major role in the pathogenesis of congenital valvular malformations, and, in this study, ...

Last Updated: 14 Oct 2005

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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 1" 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: 31 Oct 2013

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Last Updated: 4 Apr 2014

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Natural History of Diseases Associated With Allergic Inflammation: Atopic Dermatitis and Genetic and Congenital Diseases Associated With Atopic Pathways
 

Status: Recruiting

Condition Summary: Atopic Dermatitis; Netheron's Syndrome; Piebaldism; Hyper IgE Syndrome; Ichthyosis; Anaphylaxis; Severe Allergy

 

Last Updated: 14 Mar 2014

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