ErkrankungLymphödem, kongenitales erbliches; Differentialdiagnose
Zusammenfassung
Umfassendes differentialdiagnostisches panel für kongenitales erbliches Lymphödem mit 9 Leitlinien-kuratierten bzw. zusammen genommen 45 kuratierten Genen gemäß klinischer Verdachtsdiagnose
139,2 kb (Erweitertes Panel)
- EDTA-Blut (3-5 ml)
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
CCBE1 | 1221 | AR | |
EPHB4 | 2964 | AD | |
FLT4 | 4092 | AD | |
FOXC2 | 1506 | AD | |
GATA2 | 1443 | AD und/oder SMu | |
GJC2 | 1320 | AD und/oder AR | |
KIF11 | 3171 | AD | |
PIEZO1 | 7566 | AD | |
PTPN14 | 3564 | AR | |
SOX18 | 1155 | AD und/oder AR | |
VEGFC | 1263 | AD | |
ADAMTS3 | 3653 | AR | |
BRAF | 2301 | AD und/oder SMu und/oder Sus | |
CBL | 2721 | AD und/oder SMu | |
CELSR1 | 9045 | AD | |
CHD7 | 8994 | AD und/oder Impr | |
DCHS1 | 9897 | AD und/oder AR | |
FAT4 | 14946 | AR | |
GJA1 | 1149 | AD und/oder AR | |
HRAS | 570 | AD und/oder SMu und/oder Sus | |
KRAS | 567 | AD und/oder SMu und/oder Sus | |
LZTR1 | 2523 | AD und/oder AR und/oder SMu | |
MAP2K1 | 1182 | AD | |
MAP2K2 | 1203 | AD | |
NF1 | 8457 | AD und/oder SMu und/oder Sus | |
NRAS | 570 | AD und/oder SMu und/oder Sus | |
NSD1 | 8091 | AD und/oder SMu und/oder Impr | |
PMM2 | 741 | AR | |
PPP1CB | 350 | AD | |
PTPN11 | 1782 | AD und/oder SMu | |
RAF1 | 1947 | AD | |
RASA1 | 3144 | AD | |
RIT1 | 660 | AD | |
SHANK3 | 5386 | AD | |
SHOC2 | 1749 | AD | |
SOS1 | 4002 | AD | |
SOS2 | 3999 | AD | |
SPRED1 | 1335 | AD und/oder Sus | |
TSC1 | 3495 | AD und/oder Sus | |
TSC2 | 5424 | AD und/oder Sus |
Infos zur Erkrankung
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)
- AD
- AD und/oder AR
- AD und/oder AR und/oder SMu
- AD und/oder Impr
- AD und/oder SMu
- AD und/oder SMu und/oder Impr
- AD und/oder SMu und/oder Sus
- AD und/oder Sus
- AR
- Multiple OMIM-Ps
Bioinformatik und klinische Interpretation
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