ErkrankungCherubismus, Differentialdiagnose

NGS +

• Alias: Familial benign giant-cell tumor of the jaw
• Alias: Familial fibrous dysplasia of jaw
• Alias: Familial multilocular cystic disease of the jaws
• Atypical Noonan syndrome (RRAS)
• Cardiofaciocutaneous syndrome 3 (MAP2K1)
• Cardiofaciocutaneous syndrome 4 (MAP2K2)
• Cherubism (SH3BP2)
• Hyperparathyroidism 4 (GCM2)
• Hyperparathyroidism, familial primary (CDC73)
• Hyperparathyroidism, neonatal (CASR)
• Hyperparathyroidism-jaw tumor syndrome (CDC73)
• Hypoparathyroidism, familial isolated 2 (GGCM2)
• LEOPARD syndrome 1 (PTPN11)
• LEOPARD syndrome 2 (RAF1)
• LEOPARD syndrome 3 (BRAF)
• McCune-Albright syndrome, somatic, mosaic (GNAS)
• Melorheostosis, isolated, somatic mosaic (MAP2K1)
• Multiple endocrine neoplasia 1 (MEN1)
• Neurofibromatosis, type 1 (NF1)
• Neurofibromatosis-Noonan syndrome (NF1)
• Noonan syndrome 1 (PTPN11)
• Noonan syndrome 10 (LZTR1)
• Noonan syndrome 2 (LZTR1)
• Noonan syndrome 3 (KRAS)
• Noonan syndrome 4 (SOS1)
• Noonan syndrome 5 (RAF1)
• Noonan syndrome 6 Noonan syndrome 6 (NRAS)
• Noonan syndrome 7 (BRAF)
• Noonan syndrome 8 (RIT1)
• Noonan syndrome 9 (SOS2)
• Osseous heteroplasia, progressive (GNAS)
• Pseudohypoparathyroidism Ia, Ib, Ic (GNAS)
• Pseudopseudohypoparathyroidism (GNAS)
• Rasopathy (RASA2)
• Watson syndrom (NF1)