English
Klinische FragestellungNephronophthise, tubulointerstitielle Nierenerkrankung; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Nephronophthise, tubulointerstitielle Nierenerkrankung, mit 7 "core candidate"-Genen bzw. zusammen genommen 33 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
NP0630
Anzahl Gene
30
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
25,9 kb (Core-/Core-canditate-Gene)
80,8 kb (Erweitertes Panel: inkl. additional genes)
80,8 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
{Sanger]
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| CEP290 | 7440 | NM_025114.4 | AR | |
| INVS | 3198 | NM_014425.5 | AR | |
| IQCB1 | 1797 | NM_001023570.4 | AR | |
| NPHP1 | 2202 | NM_000272.5 | AR | |
| NPHP3 | 3993 | NM_153240.5 | AR | |
| NPHP4 | 4281 | NM_015102.5 | AR | |
| TMEM67 | 2988 | NM_153704.6 | AR | |
| AGXT | 1179 | NM_000030.3 | AR | |
| ANKS6 | 2616 | NM_173551.5 | AR | |
| CEP164 | 4383 | NM_014956.5 | AR | |
| CEP83 | 2106 | NM_001042399.2 | AR | |
| DCDC2 | 1431 | NM_016356.5 | AR | |
| DNAJB11 | 1250 | NM_016306.6 | AD | |
| FAN1 | 1602 | NM_001146094.2 | AR | |
| GATM | 1272 | NM_001482.3 | AR | |
| GLIS2 | 1575 | NM_032575.3 | AR | |
| HNF1B | 1674 | NM_000458.4 | AD | |
| IFT172 | 5250 | NM_015662.3 | AR | |
| MAPKBP1 | 4585 | NM_001128608.2 | AR | |
| MUC1 | 822 | NM_002456.6 | AD | |
| NEK8 | 2079 | NM_178170.3 | AR | |
| REN | 1221 | NM_000537.4 | AD | |
| RPGRIP1L | 3948 | NM_015272.5 | AR | |
| SDCCAG8 | 2142 | NM_006642.5 | AR | |
| SEC61A1 | 623 | NM_013336.4 | AD | |
| TTC21B | 3951 | NM_024753.5 | AD, AR | |
| UMOD | 1923 | NM_003361.4 | AD | |
| WDR19 | 4029 | NM_025132.4 | AR | |
| XPNPEP3 | 1524 | NM_022098.4 | AR | |
| ZNF423 | 3675 | NM_015069.5 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Nierenziliopathie mit verminderter Fähigkeit der Nieren, gelöste Stoffe zu konzentrieren, chronische tubulointerstitielle Nephritis, zystische Nierenerkrankung, Fortschreiten zur ESRD; 3 klinische Subtypen nach Alter des Ausbruchs: infantil, juvenil, spätes Einsetzen
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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