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ErkrankungZystennieren, familiäre; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Zystennieren, familiäre, mit 3 bzw. zusammen genommen 37 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
ZP0110
Anzahl Gene
36 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
29,8 kb (Core-/Basis-Gene)
125,9 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
HNF1B1674AD und/oder Sus
PKD112912AD und/oder AR
PKD22907AD
PKHD112225AR
ALG81404AD und/oder AR
ALG91858AD und/oder AR
ANKS62616AR
BICC12925AD
CEP1644383AR
CEP2907440AR und/oder Dig
CEP832106AR
COL4A15010AD und/oder Mult
DCDC21431AR
DNAJB111250AD
DZIP1L2200AR
GANAB2900AD
GLIS21575AR
INVS3198AR
LRP54848AD und/oder AR und/oder Dig und/oder Mult
MAPKBP14585AR
MUC1822AD
NEK82079AR
NPHP12202AR
NPHP33993AR
NPHP44281AR
OFD13039XL
PRKCSH1587AD
SEC632283AD
TMEM672988AR
TSC13495AD und/oder Sus
TSC25424AD und/oder Sus
TTC21B3951AD und/oder AR
UMOD1923AD
VHL642AD und/oder AR und/oder SMu und/oder Sus
WDR194029AR
ZNF4233675AR

Infos zur Erkrankung

Klinischer Kommentar

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

 

Synonyme
  • 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)
Erbgänge, Vererbungsmuster etc.
  • 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
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q61.-

Bioinformatik und klinische Interpretation

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