ErkrankungZystennieren, familiäre; Differentialdiagnose
Zusammenfassung
Umfassendes differentialdiagnostisches panel für Zystennieren, familiäre, mit 3 bzw. zusammen genommen 37 kuratierten Genen gemäß klinischer Verdachtsdiagnose
125,9 kb (Erweitertes Panel)
- EDTA-Blut (3-5 ml)
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
HNF1B | 1674 | AD und/oder Sus | |
PKD1 | 12912 | AD und/oder AR | |
PKD2 | 2907 | AD | |
PKHD1 | 12225 | AR | |
ALG8 | 1404 | AD und/oder AR | |
ALG9 | 1858 | AD und/oder AR | |
ANKS6 | 2616 | AR | |
BICC1 | 2925 | AD | |
CEP164 | 4383 | AR | |
CEP290 | 7440 | AR und/oder Dig | |
CEP83 | 2106 | AR | |
COL4A1 | 5010 | AD und/oder Mult | |
DCDC2 | 1431 | AR | |
DNAJB11 | 1250 | AD | |
DZIP1L | 2200 | AR | |
GANAB | 2900 | AD | |
GLIS2 | 1575 | AR | |
INVS | 3198 | AR | |
LRP5 | 4848 | AD und/oder AR und/oder Dig und/oder Mult | |
MAPKBP1 | 4585 | AR | |
MUC1 | 822 | AD | |
NEK8 | 2079 | AR | |
NPHP1 | 2202 | AR | |
NPHP3 | 3993 | AR | |
NPHP4 | 4281 | AR | |
OFD1 | 3039 | XL | |
PRKCSH | 1587 | AD | |
SEC63 | 2283 | AD | |
TMEM67 | 2988 | AR | |
TSC1 | 3495 | AD und/oder Sus | |
TSC2 | 5424 | AD und/oder Sus | |
TTC21B | 3951 | AD und/oder AR | |
UMOD | 1923 | AD | |
VHL | 642 | AD und/oder AR und/oder SMu und/oder Sus | |
WDR19 | 4029 | AR | |
ZNF423 | 3675 | AR |
Infos zur Erkrankung
ORPHA:730 AD polyzystische Nierenerkrankung; spät einsetzende Multisystemerkrankung mit bilateralen Nieren- + Leberzysten, erhöhtes Risiko für intrakranielle Aneurysmen
ORPHA:731 AR polyzystische Nierenerkrankung; hepatorenales fibrozystisches Syndrom mit zystischer Dilatation/Ektasie der Nierensammelkanälchen, duktale Plattenfehlbildung der Leber, -> kongenitale Leberfibrose; klinisch typischerweise in utero/bei Geburt, variabel, meist in schweren Fällen Potter-Sequenz, Oligohydramnion, pulmonale Hypoplasie, massiv vergrößerte echogene Nieren
- Alias: Familial cystic renal disease
- Alias: Polycystic kidney disease
- Alias: Polyzystische Nierenerkrankungen
- Alias: Renal cysts
- Allelic: Bardet-Biedl syndrome 14, modifier of (TMEM67)
- Allelic: Brain small vessel disease with/-out ocular anomalies (COL4A1)
- Allelic: COACH syndrome (TMEM67)
- Allelic: Congenital disorder of glycosylation, type Ih (ALG8)
- Allelic: Congenital disorder of glycosylation, type Il (ALG9)
- Allelic: Cranioectodermal dysplasia 4 (WDR19)
- Allelic: Deafness, AR 66 (DCDC2)
- Allelic: Diabetes mellitus, noninsulin-dependent (HNF1B)
- Allelic: Erythrocytosis, familial, 2 (VHL)
- Allelic: Exudative vitreoretinopathy 4 (LRP5)
- Allelic: Focal cortical dysplasia, type II, somatic (TSC1)
- Allelic: Focal cortical dysplasia, type II, somatic (TSC2)
- Allelic: Hemangioblastoma, cerebellar, somatic (VHL)
- Allelic: Hemorrhage, intracerebral, susceptibility to (COL4A1)
- Allelic: Hyperostosis, endosteal (LRP5)
- Allelic: Hyperuricemic nephropathy, familial juvenile 1 (UMOD)
- Allelic: Joubert syndrome 4 (NPHP1)
- Allelic: Joubert syndrome 5 (CEP290)
- Allelic: Joubert syndrome 6 (TMEM67)
- Allelic: Leber congenital amaurosis 10 (CEP290)
- Allelic: Lymphangioleiomyomatosis (TSC1)
- Allelic: Lymphangioleiomyomatosis, somatic (TSC2)
- Allelic: Microangiopathy + leukoencephalopathy, pontine, AD (COL4A1)
- Allelic: Orofaciodigital syndrome I (OFD1)
- Allelic: Osteopetrosis, AD 1 (LRP5)
- Allelic: Osteoporosis (LRP5)
- Allelic: Osteoporosis-pseudoglioma syndrome (LRP5)
- Allelic: Osteosclerosis (LRP5)
- Allelic: Pheochromocytoma (VHL)
- Allelic: Pneumothorax, primary spontaneous (FLCN)
- Allelic: RHYNS syndrome (TMEM67)
- Allelic: Renal cell carcinoma (HNF1B)
- Allelic: Renal cell carcinoma, somatic (VHL)
- Allelic: Retinal arteries, tortuosity of (COL4A1)
- Allelic: Retinitis pigmentosa 23 (OFD1)
- Allelic: Sclerosing cholangitis, neonatal (DCDC2)
- Allelic: Senior-Loken syndrome 4 (NPHP4)
- Allelic: Senior-Loken syndrome 6 (CEP290)
- Allelic: Senior-Loken syndrome 8 (WDR19)
- Allelic: Senior-Loken syndrome-1 (NPHP1)
- Allelic: Short-rib thoracic dysplasia 4 with/-out polydactyly (TTC21B)
- Allelic: Short-rib thoracic dysplasia 5 with/-out polydactyly (WDR19)
- Allelic: Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
- Allelic: van Buchem disease, type 2 (LRP5)
- Allelic: von Hippel-Lindau syndrome (VHL)
- Alagille syndrome 2 (NOTCH2)
- Allelic: Retinitis pigmentosa 80 (IFT140)
- Alport syndrome 2, AR (COL4A4)
- Angiopathy, hereditary, with nephropathy, aneurysms + muscle cramps (COL4A1)
- Bardet-Biedl syndrome 14 (CEP290)
- Birt-Hogg-Dube syndrome (FLCN)
- Bone mineral density variability 1 (LRP5)
- Focal cortical dysplasia, type II, somatic (TSC1)
- Gillessen-Kaesbach-Nishimura syndrome (ALG9)
- Glomerulocystic kidney disease with hyperuricemia + isosthenuria (UMOD)
- Goiter, multinodular 1, with/-out Sertoli-Leydig cell tumors (DICER1)
- Hajdu-Cheney syndrome (NOTCH2)
- Hematuria, familial benign (COL4A4)
- Joubert syndrome 10 (OFD1)
- Meckel syndrome 3 (TMEM67)
- Meckel syndrome 4 (CEP290)
- Meckel syndrome 7 (NPHP3)
- Medullary cystic kidney disease 1 (MUC1)
- Medullary cystic kidney disease 2 (UMOD)
- Nephronophthisis 1, juvenile (NPHP1)
- Nephronophthisis 11 (TMEM67)
- Nephronophthisis 12 (TTC21B)
- Nephronophthisis 13 (WDR19)
- Nephronophthisis 14 (ZNF423)
- Nephronophthisis 15 (CEP164)
- Nephronophthisis 16 (ANKS6)
- Nephronophthisis 18 (CEP83)
- Nephronophthisis 19 (DCDC2)
- Nephronophthisis 2, infantile (INVS)
- Nephronophthisis 20 (MAPKBP1)
- Nephronophthisis 3 (NPHP3)
- Nephronophthisis 4 (NPHP4)
- Nephronophthisis 7 (GLIS2)
- Nephronophthisis 9 (NEK8)
- Nephronophthisis-like nephropathy 1 (XPNPEP3)
- Pleuropulmonary blastoma (DICER1)
- Polycystic kidney disease 1 (PKD1)
- Polycystic kidney disease 2 (PKD2)
- Polycystic kidney disease 3 (GANAB)
- Polycystic kidney disease 4, with/-out hepatic disease (PKHD1)
- Polycystic kidney disease 5 (DZIP1L)
- Polycystic kidney disease 6 with/-out polycystic liver disease (DNAJB11)
- Polycystic liver disease 1 (PRKCSH)
- Polycystic liver disease 2 (SEC23)
- Polycystic liver disease 3 with/-out kidney cysts (ALG8)
- Polycystic liver disease 4 with/-out kidney cysts (LRP5)
- Renal cysts + diabetes syndrome (HNF1B)
- Renal dysplasia, cystic, susceptibility to (BICC1)
- Renal-hepatic-pancreatic dysplasia 1 (NPHP3)
- Renal-hepatic-pancreatic dysplasia 2 (NEK8)
- Rhabdomyosarcoma, embryonal, 2 (DICER1)
- Short-rib thoracic dysplasia 9 with/-out polydactyly (IFT140)
- Tuberous sclerosis-1 (TSC1)
- Tuberous sclerosis-2 (TSC2)
- Tubulointerstitial kidney disease, AD, 5 (SEC61A1)
- AD
- AD und/oder AR
- AD und/oder AR und/oder Dig und/oder Mult
- AD und/oder AR und/oder SMu und/oder Sus
- AD und/oder Mult
- AD und/oder Sus
- AR
- AR und/oder Dig
- XL
- Multiple OMIM-Ps
Bioinformatik und klinische Interpretation
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