RASopathy

The RASopathies are developmental syndromes caused by germline mutations in genes that alter the Ras subfamily and Mitogen-activated protein kinase that control Signal transduction, including:^[1][2]

• Capillary malformation-AV malformation syndrome
• Autoimmune lymphoproliferative syndrome
• Costello syndrome
• Hereditary Gingival fibromatosis type 1
• Legius syndrome
• LEOPARD syndrome
• Neuro-cardio-facial-cutaneous syndromes
• Neurofibromatosis type 1
• Noonan syndrome

References