Atlas One · Host Biology · Scale 07 — System

Noonan Syndrome

Noonan syndrome is caused by germline RAS-MAPK pathway mutations (PTPN11 ~50%, SOS1, RAF1, KRAS, LZTR1, others); short stature, pulmonary stenosis, hypertrophic cardiomyopathy, and facial dysmorphia; elevated JMML/leukemia risk; MEK inhibitors in clinical trials.

Also known as: Noonan syndrome, Noonan's syndrome, PTPN11 Noonan, NS Noonan, RASopathy Noonan, Noonan syndrome heart, Noonan syndrome leukemia, Noonan syndrome cardiomyopathy, Noonan with lentigines, LEOPARD syndrome

Scale 07 — SystemScale
draftStatus
2026-06-07Last Reviewed
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noonan-syndrome

Noonan Syndrome

Noonan syndrome is caused by germline RAS-MAPK pathway mutations (PTPN11 ~50%, SOS1, RAF1, KRAS, LZTR1, others); short stature, pulmonary stenosis, hypertrophic cardiomyopathy, and facial dysmorphia; elevated JMML/leukemia risk; MEK inhibitors in clinical trials.