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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessRenal disease, familial cystic; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Renal disease, familial cystic, comprising 5 guideline-curated genes and altogether 42 curated genes according to the clinical signs

ID
ZP0110
Number of genes
36 Accredited laboratory test
Examined sequence length
29,8 kb (Core-/Core-canditate-Genes)
125,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
HNF1B1674AD
PKD112912AD, AR
PKD22907AD
PKHD112225AR
ALG81404AD, AR
ALG91858AD, AR
ANKS62616AR
BICC12925AD
CEP1644383AR
CEP2907440AR
CEP832106AR
COL4A15010AD, Mult
DCDC21431AR
DNAJB111250AD
DZIP1L2200AR
GANAB2900AD
GLIS21575AR
INVS3198AR
LRP54848AD
MAPKBP14585AR
MUC1822AD
NEK82079AR
NPHP12202AR
NPHP33993AR
NPHP44281AR
OFD13039XL
PRKCSH1587AD
SEC632283AD
TMEM672988AD
TSC13495AD
TSC25424AD
TTC21B3951AD, AR
UMOD1923AR
VHL642AR
WDR194029AR
ZNF4233675AR

Informations about the disease

Clinical Comment

Renal cysts can be clinically insignificant but can also lead to early end-stage renal failure. The cystic kidney is a disease diagnosed by renal size and cyst location and by extra-renal symptoms. Cystic kidney disease (CKD) may also be associated with extra-renal symptoms in multisystemic diseases, as in tuberous sclerosis and von Hippel-Lindau syndrome. Causal pathogenetically, glomerulocystic and medullary forms of CKD and juvenile nephronophthisis remain to be differentiated. Accordingly, CKDs have quite different causes, hereditary, systemic or rarely acquired and can develop in children and adults. Inherited CKDs are often autosomal dominant (ADPKD) or less commonly autosomal recessive CKDs (ARPKD) each with variable expressivity and penetrance. In more than 90% of familial CDKs, the genetic cause can currently be clarified by molecular genetics. Yet, an inconspicuous genetic finding does not imply exclusion of a suspected clinical diagnosis of CKD.

References: https://www.ncbi.nlm.nih.gov/books/NBK1246/

https://www.ncbi.nlm.nih.gov/books/NBK1326/

https://www.ncbi.nlm.nih.gov/books/NBK1356/

https://www.ncbi.nlm.nih.gov/books/NBK368475/

https://www.ncbi.nlm.nih.gov/books/NBK153723/

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Mult
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q61.-

Bioinformatics and clinical interpretation

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