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Klinische FragestellungGlomerulosklerose, fokal-segmentale; Differentialdiagnose

Auftragsschein Klin. Fragestellung

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für fokal-segmentale Glomerulosklerose mit 3 Leitlinien-kuratierten Genen, 7 "core candidate"-Genen bzw. insgesamt 64 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
GP0150
Anzahl Gene
48 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
30,6 kb (Core-/Core-canditate-Gene)
174,5 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
ACTN42736NM_004924.6AD
CD2AP1920NM_012120.3AR
COL4A35013NM_000091.5AD, AR
COL4A45073NM_000092.5AR
COL4A55058NM_000495.5XL
COQ8B1512NM_001142555.3AR
INF23750NM_022489.4AD
NPHS21152NM_014625.4AR
TRPC62796NM_004621.6AD
WT11569NM_024426.6AD
ALG11395NM_019109.5AR
ANLN3375NM_018685.5AD
APOL11197NM_001136540.2AR
ARHGAP242247NM_001025616.3n.k.
ARHGDIA615NM_001185077.3AR
COQ21266NM_015697.9AR
COQ61407NM_182476.3AR
CRB23858NM_173689.7AR
CUBN10872NM_001081.4AR
DGKE1704NM_003647.3AR
EMP2504NM_001424.6AR
FAT113767NM_005245.4AR
FN17068NM_002026.4AD
ITGA33156NM_002204.4AR
ITGB45259NM_001005731.3n.k.
KANK22556NM_001136191.3AR
LAMA511088NM_005560.6AR
LAMB25397NM_002292.4AR
LMX1B1188NM_002316.4AD
LRP213968NM_004525.3AR
MAGI24368NM_012301.4AR
MYH95883NM_002473.6AD
MYO1E3327NM_004998.4AR
NPHP44281NM_015102.5AR
NPHS13726NM_004646.4AR
NUP1072778NM_020401.4AR
PAX21254NM_003987.5AD
PDSS21200NM_020381.4AR
PLCE16909NM_016341.4AR
PMM2741NM_000303.3AR
PODXL1677NM_001018111.3AD
PTPRO3651NM_030667.3AR
SCARB21437NM_005506.4AR
SMARCAL12865NM_001127207.2AR
SYNPO2058NM_001109974.3n.k.
TP53RK762NM_033550.4AR
TTC21B3951NM_024753.5AR, AD
WDR731137NM_032856.5AR

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
  • AR
  • XL
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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