ErkrankungGlomerulosklerose, fokal-segmentale; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für fokal-segmentale Glomerulosklerose mit 8 bzw. 53 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
GP0150
Anzahl Gene
49
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
30,6 kb (Core-/Basis-Gene)
178,1 kb (Erweitertes Panel)
178,1 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
ACTN4 | 2736 | AD | |
CD2AP | 1920 | AD und/oder Dig | |
COL4A3 | 5013 | AD und/oder AR und/oder Dig | |
COL4A4 | 5073 | AD und/oder AR und/oder Dig | |
COL4A5 | 5058 | XLD | |
COQ8B | 1512 | AR | |
INF2 | 3750 | AD | |
NPHS2 | 1152 | AR und/oder Dig | |
TRPC6 | 2796 | AD | |
WT1 | 1569 | AD und/oder Dig und/oder SMu und/oder Sus | |
ALG1 | 1395 | AR | |
ANLN | 3375 | AD | |
APOL1 | 1197 | AR und/oder Sus | |
ARHGAP24 | 2247 | Mult und/oder SMu | |
ARHGDIA | 615 | AR | |
COQ2 | 1266 | AD und/oder AR | |
COQ6 | 1407 | AR | |
CRB2 | 3858 | AR | |
CUBN | 10872 | AR | |
DGKE | 1704 | AR | |
EMP2 | 504 | AR | |
FAT1 | 13767 | AR | |
FN1 | 7068 | AD | |
ITGA3 | 3156 | AR | |
ITGB4 | 5259 | AD und/oder AR | |
KANK2 | 2556 | AR | |
LAMA5 | 11088 | AR | |
LAMB2 | 5397 | AR | |
LMX1B | 1188 | AD | |
LRP2 | 13968 | AR | |
MAGI2 | 4368 | AR | |
MYH9 | 5883 | AD | |
MYO1E | 3327 | AR | |
NPHP4 | 4281 | AR | |
NPHS1 | 3726 | AR und/oder Dig | |
NUP107 | 2778 | AR | |
PAX2 | 1254 | AD | |
PDSS2 | 1200 | AR | |
PLCE1 | 6909 | AR | |
PMM2 | 741 | AR | |
PODXL | 1677 | AD | |
PTPRO | 3651 | AR | |
SCARB2 | 1437 | AR | |
SMARCAL1 | 2865 | AR | |
SYNPO | 2058 | n.k. | |
TP53RK | 762 | AR | |
TTC21B | 3951 | AD und/oder AR | |
WDR73 | 1137 | AR | |
XPO5 | 3615 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Pathologischer Befund bei verschiedenen Nierenerkrankungen, der sich klinisch als Proteinurie + progressive Nierenfunktionsstörung manifestiert. Einige Patienten entwickeln ein nephrotisches Syndrom, das eine massive Proteinurie, Hypoalbuminämie, Hyperlipidämie und Ödeme umfasst. FSGS-Patienten können eine Proteinurie im nephrotischen Bereich ohne andere Merkmale eines nephrotischen Syndroms aufweisen.
Synonyme
- Alias: Focal segmental glomerulosclerosis; FSGS
- Allelic: Cerebral palsy, spastic quadriplegic, 2 (KANK1)
- Allelic: Deafness, AD 17 (MYH9)
- Allelic: Denys-Drash-, Frasier-, Meacham syndrome; Mesothelioma, somatic; Wilms tumor, type 1 (WT1)
- Allelic: Epidermolysis bullosa of hands and feet (ITGB4)
- Allelic: Epidermolysis bullosa, junctional, non-Herlitz type (ITGB4)
- Allelic: Epidermolysis bullosa, junctional, with pyloric atresia (ITGB4)
- Allelic: Hematuria, benign familial (COL4A3, COL4A4)
- Allelic: Palmoplantar keratoderma + woolly hair (KANK2)
- Allelic: Short-rib thoracic dysplasia 4 with/-out polydactyly (TTC21B)
- Alport syndrome 1, XL (COL4A5)
- Alport syndrome 2, AR (COL4A3, COL4A4)
- Alport syndrome 3, AD (COL4A3)
- Coenzyme Q10 deficiency, primary, 1 (COQ2)
- Coenzyme Q10 deficiency, primary, 3 (PDSS2)
- Coenzyme Q10 deficiency, primary, 6 (COQ6)
- Congenital disorder of glycosylation, type Ia (PMM2)
- Congenital disorder of glycosylation, type Ik (ALG1)
- Congenital nephrotic syndrome [panelapp green] (PODXL)
- Donnai-Barrow syndrome (LRP2)
- End-stage renal disease, nondiabetic, susceptibility to (APOL1)
- Epidermolysis bullosa simplex 7, with nephropathy + deafness (CD151)
- Epilepsy, progressive myoclonic 4, with/-out renal failure (SCARB2)
- Focal segmental glomerulosclerosis + neurodevelopmental syndrome (TRIM8)
- Focal segmental glomerulosclerosis 10 (LMX1B)
- Focal segmental glomerulosclerosis 8 (ANLN)
- Focal segmental glomerulosclerosis 9 (CRB2)
- Focal segmental glomerulosclerosis [panelapp red] (E2F3)
- Focal segmental glomerulosclerosis [panelapp red] (SYNPO)
- Galloway-Mowat syndrome 1 (WDR73)
- Galloway-Mowat syndrome 2, XL (LAGE3)
- Galloway-Mowat syndrome 3 (OSGEP)
- Galloway-Mowat syndrome 4 (TP53RK)
- Galloway-Mowat syndrome 5 (TPRKB)
- Galloway-Mowat syndrome 7 (NUP107)
- Galloway-Mowat syndrome 8 (NUP133)
- Glomerulopathy with fibronectin deposits 2 (FN1)
- Glomerulosclerosis, focal segmental, 1 (ACTN4)
- Glomerulosclerosis, focal segmental, 2 (TRPC6)
- Glomerulosclerosis, focal segmental, 3 (CD2AP)
- Glomerulosclerosis, focal segmental, 4, susceptibility to (APOL1)
- Glomerulosclerosis, focal segmental, 5 (INF2)
- Glomerulosclerosis, focal segmental, 6 (MYO1E)
- Glomerulosclerosis, focal segmental, 7 (PAX2)
- Glomerulotubular nephropathy [panelapp] (FAT1)
- Hemolytic uremic syndrome, atypical, susceptibility to, 7 (DGKE)
- Imerslund-Grasbeck syndrome 1 (CUBN)
- Interstitial lung disease, nephrotic syndrome, epidermolysis bullosa, congenital (ITGA3)
- Macrothrombocytopenia + granulocyte inclus. with/-out nephritis or sensorineural hearing loss (MYH9)
- Nail-patella syndrome (LMX1B)
- Nephronophthisis 12 (TTC21B)
- Nephronophthisis 4 (NPHP4)
- Nephrotic syndrome [panelapp] (LAMA5)
- Nephrotic syndrome [panelapp] (XPO5)
- Nephrotic syndrome, type 1 (NPHS1)
- Nephrotic syndrome, type 10 (EMP2)
- Nephrotic syndrome, type 11 (NUP107)
- Nephrotic syndrome, type 12 (NUP93)
- Nephrotic syndrome, type 13 (NUP205)
- Nephrotic syndrome, type 14 (SGPL1)
- Nephrotic syndrome, type 15 (MAGI2)
- Nephrotic syndrome, type 16 (KANK2)
- Nephrotic syndrome, type 17 (NUP85)
- Nephrotic syndrome, type 18 (NUP133)
- Nephrotic syndrome, type 19 (NUP160)
- Nephrotic syndrome, type 2 (NPHS2)
- Nephrotic syndrome, type 20 (TBC1D8B)
- Nephrotic syndrome, type 21 (AVIL)
- Nephrotic syndrome, type 3 (PLCE1)
- Nephrotic syndrome, type 4 (WT1)
- Nephrotic syndrome, type 5, with/-out ocular abnormalities (LAMB2)
- Nephrotic syndrome, type 6 (PTPRO)
- Nephrotic syndrome, type 7 (DGKE)
- Nephrotic syndrome, type 8 (ARHGDIA)
- Nephrotic syndrome, type 9 (COQ8B)
- Papillorenal syndrome (PAX2)
- Pierson syndrome (LAMB2)
- Proteinuria, chronic benign (CUBN)
- Proteinuric renal disease [panelapp] (GAPVD1)
- Schimke immunoosseous dysplasia (SMARCAL1)
- Senior-Loken syndrome 4 (NPHP4)
- Steroid-resistant nephrotic syndrome [GeneReviews] (ANKFY1)
- Ventriculomegaly with cystic kidney disease (CRB2)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Dig
- AD und/oder Dig
- AD und/oder Dig und/oder SMu und/oder Sus
- AR
- AR und/oder Dig
- AR und/oder Sus
- Mult und/oder SMu
- XLD
- n.k.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
N04.1
Bioinformatik und klinische Interpretation
Kein Text hinterlegt