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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)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ACTN42736AD
CD2AP1920AD und/oder Dig
COL4A35013AD und/oder AR und/oder Dig
COL4A45073AD und/oder AR und/oder Dig
COL4A55058XLD
COQ8B1512AR
INF23750AD
NPHS21152AR und/oder Dig
TRPC62796AD
WT11569AD und/oder Dig und/oder SMu und/oder Sus
ALG11395AR
ANLN3375AD
APOL11197AR und/oder Sus
ARHGAP242247Mult und/oder SMu
ARHGDIA615AR
COQ21266AD und/oder AR
COQ61407AR
CRB23858AR
CUBN10872AR
DGKE1704AR
EMP2504AR
FAT113767AR
FN17068AD
ITGA33156AR
ITGB45259AD und/oder AR
KANK22556AR
LAMA511088AR
LAMB25397AR
LMX1B1188AD
LRP213968AR
MAGI24368AR
MYH95883AD
MYO1E3327AR
NPHP44281AR
NPHS13726AR und/oder Dig
NUP1072778AR
PAX21254AD
PDSS21200AR
PLCE16909AR
PMM2741AR
PODXL1677AD
PTPRO3651AR
SCARB21437AR
SMARCAL12865AR
SYNPO2058n.k.
TP53RK762AR
TTC21B3951AD und/oder AR
WDR731137AR
XPO53615AR

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

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