Noonan Syndrome
Nate Young and Paul Lowrie
What is Noonan Syndrome?
Molecular Components
What are the Inheritance Patterns of Noonan Syndrome?
Biochemical Components
What Proteins are affected by the Mutation?
Organismal Components
What are the symptoms? How are they treated?
The treatable symptoms are treated the same as if any random person had them. Short stature can be treated with a hormone.
What are some statistics and facts about Noonan Syndrome?
- About 1 in 1,000-2,500 people have it
- 50%-70% have short stature
- 85% of kids will develop heart problem, 25% will have a speaking delay
- 33% of kids have a learning disability, 50% will develop an eye condition
- Although boys are affected by Noonan Syndrome twice as much, someone from any gender can get the disorder.
- The facial features of a person with Noonan Syndrome change as they get older.
Child with Noonan Syndrome
Heart Problems with Noonan Syndrome
Various Symptoms of Noonan Syndrome
Works Consulted
"Learning about Noonan Syndrome." National Human Research Human Institute. Web. 3 Apr. 2016. <https://www.genome.gov/25521674#al-4>.
"19 Notable Noonan Syndrome Statistics." HRF. Web. 3 Apr. 2016.
<http://healthresearchfunding.org/19-notable-noonan-syndrome-statistics/>.
"Noonan Syndrome." Genetics Home Reference. Web. 3 Apr. 2016. <https://ghr.nlm.nih.gov>.
"Noonan Syndrome." Hereditary Ocular Disease. Web. 3 Apr. 2016. <http://disorders.eyes.arizona.edu/>.
"Noonan Syndrome." Mayo Clinic. Web. 3 Apr. 2016. <http://www.mayoclinic.org/diseases-conditions/noonan-syndrome/basics/definition/con-20028908>.
Fragale, A., and M. Tartaglia. "Noonan Syndrome-associated SHP2/PTPN11 Mutants Cause EGF-dependent Prolonged GAB1 Binding and Sustained ERK2/MAPK1 Activation." PubMed.gov. Web. 4 Apr. 2016. <http://www.ncbi.nlm.nih.gov/pubmed/14974085>.