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)
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
Name | Exon Length (bp) | OMIM-G | Heredity |
---|---|---|---|
CEP290 | 7440 | AR | |
INVS | 3198 | AR | |
IQCB1 | 1797 | AR | |
NPHP1 | 2202 | AR | |
NPHP3 | 3993 | AR | |
NPHP4 | 4281 | AR | |
TMEM67 | 2988 | AR | |
AGXT | 1179 | AR | |
ANKS6 | 2616 | AR | |
CEP164 | 4383 | AR | |
CEP83 | 2106 | AR | |
DCDC2 | 1431 | AR | |
DNAJB11 | 1250 | AD | |
FAN1 | 1602 | AR | |
GATM | 1272 | AR | |
GLIS2 | 1575 | AR | |
HNF1B | 1674 | AD | |
IFT172 | 5250 | AR | |
MAPKBP1 | 4585 | AR | |
MUC1 | 822 | AD | |
NEK8 | 2079 | AR | |
REN | 1221 | AD, AR | |
RPGRIP1L | 3948 | AR | |
SDCCAG8 | 2142 | AR | |
SEC61A1 | 623 | AD | |
TTC21B | 3951 | AD, AR | |
UMOD | 1923 | AD | |
WDR19 | 4029 | AR | |
XPNPEP3 | 1524 | AR | |
ZNF423 | 3675 | AD, 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