Klinische FragestellungNoonan-Syndrom mit multiplen Lentigines, Differentialdiagnose [obsolet: LEOPARD-S.]

NGS + Sanger

Lentigines, hypertrophe Kardiomyopathie, Kleinwuchs, deformierter Brustkorb + dysmorphe Gesichtszüge

• OBSOLETE designation: LEOPARD syndrome
• Aarskog-Scott syndrome (FGD1)
• Alias: Cardiomyopathic lentiginosis
• Alias: Familial multiple lentigines syndrome
• Alias: Lentiginosis, cardiomyopathic
• Alias: Multiple lentigines syndrome
• Alias: Noonan syndrome with multiple lentigines
• Allelic: Adenocarcinoma of lung, somatic (BRAF)
• Allelic: Cardiofaciocutaneous syndrome (BRAF)
• Allelic: Cardiofaciocutaneous syndrome 2 (KRAS)
• Allelic: Cardiomyopathy, dilated, 1NN (RAF1)
• Allelic: Colorectal cancer, somatic (BRAF)
• Allelic: Colorectal cancer, somatic (NRAS)
• Allelic: Congenital myopathy with excess of muscle spindles (HRAS)
• Allelic: Epidermal nevus, somatic (NRAS)
• Allelic: Fibromatosis, gingival, 1 (SOS)
• Allelic: Intellectual developmental disorder, XL syndromic 16 (FGD1)
• Allelic: Juvenile myelomonocytic leukemia (CBL)
• Allelic: Leukemia, juvenile myelomonocytic (NF1)
• Allelic: Leukemia, juvenile myelomonocytic, somatic (PTPN11)
• Allelic: Melanoma, malignant, somatic (BRAF)
• Allelic: Melorheostosis, isolated, somatic mosaic (MAP2K1)
• Allelic: Metachondromatosis (PTPN11)
• Allelic: Neurofibromatosis, familial spinal (NF1)
• Allelic: Neurofibromatosis, type 1 (NF1)
• Allelic: Neurofibromatosis-Noonan syndrome (NF1)
• Allelic: Nonsmall cell lung cancer, somatic (BRAF)
• Allelic: Noonan syndrome 1 (PTPN11)
• Allelic: Noonan syndrome 5 (RAF1)
• Allelic: Noonan syndrome 6 (NRAS)
• Allelic: Noonan syndrome 7 (BRAF)
• Allelic: Oculoectodermal syndrome, somatic (KRAS)
• Allelic: RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic (NRAS)
• Allelic: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (KRAS, NRAS)
• Allelic: Thyroid carcinoma, follicular, somatic (NRAS)
• Cardiofaciocutaneous syndrome 3 (MAP2K1)
• Cardiofaciocutaneous syndrome 4 (MAP2K2)
• Costello syndrome (HRAS)
• LEOPARD syndrome 1 (PTPN11)
• LEOPARD syndrome 2 (RAF1)
• LEOPARD syndrome 3 (BRAF)
• Legius syndrome (SPRED1)
• Melanocytic nevus syndrome, congenital, somatic (NRAS)
• Neurocutaneous melanosis, somatic (NRAS)
• Noonan syndrome 3 (KRAS)
• Noonan syndrome 4 (SOS)
• Noonan syndrome 8 (RIT1)
• Noonan syndrome-like disorder +/- juvenile myelomonocytic leukemia (CBL)
• Noonan syndrome-like disorder with loose anagen hair 2 (PPP1CB)
• Watson syndrome (NF1)