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
Cellosaurus Terminology
MAP2K1 Gene
MAPK1 Gene
MRAS Gene
RRAS2 Gene
KRAS Gene
NRAS Gene
PTPN11 Gene
Noonan Syndrome
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.
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.
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.
ACC/AHA
C0028326
C34854
CCPS
Cellosaurus
Congenital Abnormality
Disease or Syndrome
NICHD
Noonan Syndrome
Noonan Syndrome
Noonan syndrome
Noonan's Syndrome
Noonan_Syndrome
PCDC
NICHD Terminology
Neonatal Research Network Terminology