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

IllnessNephronophthisis, tubulointerstitial kidney disease; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Nephronophthisis, tubulointerstitial kidney disease, comprising 7 and altogether 33 curated genes according to the clinical signs

ID
NP0630
Number of genes
30 Accredited laboratory test
Examined sequence length
25,9 kb (Core-/Core-canditate-Genes)
80,8 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
CEP2907440AR
INVS3198AR
IQCB11797AR
NPHP12202AR
NPHP33993AR
NPHP44281AR
TMEM672988AR
AGXT1179AR
ANKS62616AR
CEP1644383AR
CEP832106AR
DCDC21431AR
DNAJB111250AD
FAN11602AR
GATM1272AR
GLIS21575AR
HNF1B1674AD
IFT1725250AR
MAPKBP14585AR
MUC1822AD
NEK82079AR
REN1221AD, AR
RPGRIP1L3948AR
SDCCAG82142AR
SEC61A1623AD
TTC21B3951AD, AR
UMOD1923AD
WDR194029AR
XPNPEP31524AR
ZNF4233675AD, AR

Informations about the disease

Clinical Comment

Renal ciliopathy with reduced renal ability to concentrate solutes, chronic tubulointerstitial nephritis, cystic renal disease, progression to ESRD. 3 clinical subtypes by age of onset: infantile, juvenile, late onset

 

Synonyms
  • Alias: Tubulointerstitial kidney disease
  • Alias: Tubulointerstitial nephritis
  • Bardet-Biedl syndrome 14 (CEP290)
  • Bardet-Biedl syndrome 14, modifier of (TMEM67)
  • Bardet-Biedl syndrome 16 (SDCCAG8)
  • COACH syndrome (RPGRIP1L, TMEM67)
  • COACH syndrome 2 (CC2D2A)
  • Fanconi renotubular syndrome 1 (GATM)
  • Glomerulocystic kidney disease, hyperuricemia + isosthenuria (UMOD)
  • Hyperoxaluria, primary, type 1 (AGXT)
  • Hyperproreninemia (REN)
  • Hyperuricemic nephropathy, familial juvenile 1 (UMOD)
  • Hyperuricemic nephropathy, familial juvenile 2 (REN)
  • Interstitial nephritis, karyomegalic (FAN1)
  • Joubert syndrome 19 (ZNF423)
  • Joubert syndrome 3 (AHI1)
  • Joubert syndrome 4 (NPHP1)
  • Joubert syndrome 5 (CEP290)
  • Joubert syndrome 6 (TMEM67)
  • Joubert syndrome 7 (RPGRIP1L)
  • Joubert syndrome 9 (CC2D2A)
  • Leber congenital amaurosis 10 (CEP290)
  • Meckel syndrome 3 (TMEM67)
  • Meckel syndrome 4 (CEP290)
  • Meckel syndrome 5 (RPGRIP1L)
  • Meckel syndrome 6 (CC2D2A)
  • 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-related ciliopathy [panelapp] (ADAMTS9)
  • Nephronopthisis-like nephropathy 1 (XPNPEP3)
  • Polycystic kidney disease 6 with/-out polycystic liver disease (DNAJB11)
  • RHYNS syndrome (TMEM67)
  • Renal cysts and diabetes syndrome (HNF1B)
  • Renal tubular dysgenesis (REN)
  • Renal-hepatic-pancreatic dysplasia 1 (NPHP3)
  • Renal-hepatic-pancreatic dysplasia 2 (NEK8)
  • Senior-Loken syndrome 1 (NPHP1)
  • Senior-Loken syndrome 4 (NPHP4)
  • Senior-Loken syndrome 5 (IQCB1)
  • Senior-Loken syndrome 6 (CEP290)
  • Senior-Loken syndrome 7 (SDCCAG8)
  • Senior-Loken syndrome 8 (WDR19)
  • Spinocerebellar ataxia 10 (ATXN10)
  • Tubulointerstitial kidney disease, AD, 5 (SEC61A1)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q61.5

Bioinformatics and clinical interpretation

No text defined