Klinische FragestellungLymphödem, kongenitales erbliches; Differentialdiagnose

NGS +

[Sanger]

Hereditäres Lymphödem, Schwellung der Extremitäten aufgrund von Störungen in der Entwicklung und/oder Funktion der Lymphgefäße, die zur Lymphstauung im interstitiellen Flüssigkeitsraum führt; sehr variabel in Expression/Penetranz einschließlich nicht betroffener obligater Heterozygoter; Beginn vom embryonalen bis zum mittleren Lebensalter. Klassisches kongenitales Ödem der unteren Körperhälfte -> keine anderen offensichtlichen Manifestationen; Komplikationen der Milroy-Krankheit sind Hypoproteinämie (Verlust von Albumin im Darm), erhöhte Infektionsanfälligkeit der betroffenen Extremität, in einigen Fällen Angiosarkom

• Alias: Early-onset primary congenital lymphedema
• Allelic: Congenital heart defects, multiple types, 7 (FLT4)
• Allelic: Fibromatosis, gingival, 1 (SOS1)
• Allelic: Hemangioma, capillary infantile, somatic (FLT4)
• Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
• Allelic: Juvenile myelomonocytic leukemia (CBL)
• Allelic: Leukemia, juvenile myelomonocytic (NF1)
• Allelic: Leukodystrophy, hypomyelinating, 2 (GJC2)
• Allelic: Mitral valve prolapse 2 (DCHS1)
• Allelic: Neurofibromatosis, familial spinal (NF1)
• Allelic: Schwannomatosis-2, susceptibility to (LZTR1)
• Allelic: Spastic paraplegia 44, AR (GJC2)
• CHARGE [Coloboma, Heart anomalies, choanal Atresia, mR, Genital + Ear anomalies] syndrome (CHD7)
• Capillary malformation-arteriovenous malformation 1 (RASA1)
• Capillary malformation-arteriovenous malformation 2 (EPHB4)
• Cardiofaciocutaneous syndrome (BRAF)
• Cardiofaciocutaneous syndrome 2 (KRAS)
• Cardiofaciocutaneous syndrome 3 (MAP2K1)
• Cardiomyopathy, dilated, 1NN (RAF1)
• Choanal atresia + lymphedema (PTPN14)
• Congenital disorder of glycosylation, type Ia (PMM2)
• Congenital myopathy with excess muscle spindles (HRAS)
• Costello syndrome (HRAS)
• Ectodermal dysplasia + immunodeficiency 1 (IKBKG)
• Emberger syndrome [Lymphedema, primary, with Mmyelodysplasia] (GATA2)
• Hennekam lymphangiectasia-lymphedema syndrome 1 (CCBE1)
• Hennekam lymphangiectasia-lymphedema syndrome 2 (FAT4)
• Hennekam lymphangiectasia-lymphedema syndrome 3 (ADAMTS3)
• Hypotrichosis-lymphedema-telangiectasia syndrome (SOX18)
• Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (SOX18)
• Immunodeficiency 33 (IKBKG)
• Immunodeficiency 42 (RORC)
• Incontinentia pigmenti (IKBKKG)
• LEOPARD syndrome 1 (PTPN11)
• LEOPARD syndrome 2 (RAF1)
• LEOPARD syndrome 3 (BRAF)
• Legius syndrome (SPREAD1)
• Lymphangioleiomyomatosis (TSC1)
• Lymphangioleiomyomatosis, somatic (TSC2)
• Lymphatic malformation 10 (ANGPT2)
• Lymphatic malformation 11 (TIE1)
• Lymphatic malformation 1; [Nonne-Milroy lymphedema] (FLT4)
• Lymphatic malformation 3 (GJC2)
• Lymphatic malformation 4 (VEGFC)
• Lymphatic malformation 6 (PIEZO1)
• Lymphatic malformation 7 (EPHB4)
• Lymphatic malformation 9 (CELSR1)
• Lymphedema-distichiasis syndrome (FOXC2)
• Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus (FOXC2)
• Lymphoedema [MONDO:0019297] (ARAP3)
• Lymphoedema [MONDO:0019297] (RORC)
• Metachondromatosis 1 (PTPN11)
• Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (KIF11)
• 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 (NRAS)
• Noonan syndrome 7 (BRAF)
• Noonan syndrome 8 (RIT1)
• Noonan syndrome 9 (SOS2)
• Noonan syndrome-like disorder with loose anagen hair 2 (PPP1CB)
• Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)
• Noonan syndrome-like with loose anagen hair 1 (SHOC2)
• Phelan-McDermid syndrome (SHANK3)
• RAS-associated autoimmune leukoproliferative disorder (KRAS)
• Schizophrenia 15 (SHANK3)
• Sotos syndrome 1 (NSD1)
• Van Maldergem syndrome 1 (DCHS1)
• Van Maldergem syndrome 2 (FAT4)
• Watson syndrome (NF1)
• ardiofaciocutaneous syndrome 4 (MAP2K2)