RRAS Gene SOS1 Gene Pediatric Endocrinology Terminology LZTR1 Gene Cellosaurus Disease Terminology ACC/AHA Pediatric and Congenital Cardiology EHR Terminology RIT1 Gene SOS2 Gene RASA2 Gene Childhood Cancer Predisposition Study Terminology CCPS Disease Terminology RASopathy RAF1 Gene BRAF Gene HL Medical History Table HL Authorized Value Terminology MAP2K1 Gene MAPK1 Gene MRAS Gene RRAS2 Gene KRAS Gene NRAS Gene PTPN11 Gene Noonan Syndrome Noonan Syndrome Noonan's Syndrome A genetic syndrome caused by mutations in the PTPN11 gene (over 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function. Noonan_Syndrome Cellosaurus NICHD Disease or Syndrome PCDC C0028326 A genetic syndrome caused by mutations in the PTPN11 gene (greater than 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function. Congenital Abnormality ACC/AHA Noonan syndrome A predominantly autosomal dominant condition typically caused by mutation(s) in genes encoding proteins involved in the RAS-MAP kinase pathway, disrupting the regulation of cell growth and division. The condition is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, pectus excavatum/carinatum, right sided cardiac anomalies (pulmonary stenosis, hypertrophic cardiomyopathy), bleeding disorders, and an increased risk of leukemia. Fifty percent of individuals with Noonan syndrome have mutation(s) in the PTPN11 gene, encoding tyrosine-protein phosphatase non-receptor type 11. Noonan Syndrome CCPS C34854 NICHD Terminology Neonatal Research Network Terminology