Klinische FragestellungRASopathien, Differentialdiagnose

RP7789_DH

• Allelic: Cardiomyopathy, dilated, 1NN (RAF1)
• Allelic: Congenital myopathy with excess of muscle spindles (HRAS)
• Allelic: Fibromatosis, gingival, 1 (SOS1)
• Allelic: Juvenile myelomonocytic leukemia (CBL)
• Allelic: Leukemia, juvenile myelomonocytic (NF1)
• Allelic: Metachondromatosis (PTPN11)
• Allelic: RAS-associated autoimmune leukoproliferative disorder (KRAS)
• Allelic: Schwannomatosis-2, susceptibility to (LZTR1)
• Cardiofaciocutaneous syndrome (BRAF)
• Cardiofaciocutaneous syndrome 2 (KRAS)
• Cardiofaciocutaneous syndrome 3 (MAP2K1)
• Cardiofaciocutaneous syndrome 4 (MAP2K2)
• Costello syndrome (HRAS)
• Intellectual developmental disorder, AD 5 (SYNGAP1)
• LEOPARD syndrome 1 (PTPN11)
• LEOPARD syndrome 2 (RAF1)
• LEOPARD syndrome 3 (BRAF)
• Legius syndrome (SPRED1)
• Neurofibromatosis, familial spinal (NF1)
• Neurofibromatosis, type 1 (NF1)
• Neurofibromatosis, type 2 (NF2)
• Neurofibromatosis-Noonan syndrome (NF1)
• Noonan syndrome 1 (PTPN11)
• Noonan syndrome 10 (LZTR1)
• Noonan syndrome 11 (MRAS)
• Noonan syndrome 12 (RRAS2)
• Noonan syndrome 14 (SPRED2)
• Noonan syndrome 2 (LZTR1)
• Noonan syndrome 3 (KRAS)
• Noonan syndrome 4 (SOS1)
• Noonan syndrome 5 (RAF1)
• Noonan syndrome 6 (NRAS)
• Noonan syndrome 7 (BRAF)
• Noonan syndrome 8 (RIT1)
• Noonan syndrome 9 (SOS2)
• Noonan syndrome-like disorder +/- juvenile myelomonocytic leukemia (CBL)
• Noonan syndrome-like disorder with loose anagen hair 1 (SHOC2)
• Noonan syndrome-like disorder with loose anagen hair 2 (PPP1CB)
• Noonan syndrome? (RASA2)
• Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
• Watson syndrome (NF1)