IllnessNephronophthisis, tubulointerstitial kidney disease; differential diagnosis

NGS +

{Sanger]

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

• 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)