Klinische FragestellungZystennieren, familiäre; Differentialdiagnose

NGS +

[Sanger]

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: Anterior segment anomalies +/- cataract (EYA1)
• Allelic: Branchiootic syndrome 1 (EYA1)
• Allelic: Fabry disease, cardiac variant (GLA)
• Allelic: Glomerulosclerosis, focal segmental, 7 (PAX2)
• Allelic: Orofacial cleft 11 (BMP4)
• Allelic: Otofaciocervical syndrome (EYA1)
• 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)
• Branchiootorenal syndrome 1, +/- cataracts (EYA1)
• Cystic kidney disease [MONDO:0002473] (IFT140)
• Fabry disease (GLA)
• 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)
• Hepatorenocardiac degenerative fibrosis (TULP3)
• Hypoparathyroidism, sensorineural deafness + renal dysplasia (GATA3)
• 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)
• Microphthalmia, syndromic 6 (BMP4)
• 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)
• Papillorenal syndrome (PAX2)
• 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 kidney disease 7 (ALG5)
• 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 coloboma syndrome [MONDO:0007352] (PAX2)
• Renal cyst [HP:0000107] (GLA)
• Renal cysts + diabetes syndrome (HNF1B)
• Renal dysplasia, cystic, susceptibility to (BICC1)
• Renal parapelvic cysts [panelapp] (GLA)
• 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)
• Townes-Brocks branchiootorenal-like syndrome (SALL1)
• Townes-Brocks syndrome 1 (SALL1)
• Tuberous sclerosis-1 (TSC1)
• Tuberous sclerosis-2 (TSC2)
• Tubulointerstitial kidney disease, AD, 5 (SEC61A1)
• Vesicoureteral reflux 2 (ROBO2)