Klinische FragestellungPodozytopathien, syndromal; Differentialdiagnose

NGS +

illness_ClinicalComment_PP9112

• ...ad nomenclature: depending on 1. publication/quotation -> either designated as FSGS or SRNS
• Alias: Focal Segmental GlomeruloSklerosis, FSGS
• Alias: Steroid-Resistant Nephrotic Syndrome, SRNS
• Allelic: Blood group, Raph (CD151)
• Allelic: Charcot-Marie-Tooth disease, dominant intermediate E (INF2)
• Allelic: Deafness, AD 17 (MYH9)
• Allelic: Hemolytic uremic syndrome, atypical, susceptibility to, 7 (DGKE)
• Allelic: Multiple system atrophy, susceptibility to (COQ2)
• Allelic: Nail-patella syndrome (LMX1B)
• Allelic: Ovarian dysgenesis 6 (NUP107)
• Allelic: Palmoplantar keratoderma and woolly hair (KANK2)
• Allelic: Short-rib thoracic dysplasia 4 with/-out polydactyly (TTC21B)
• Allelic: Ventriculomegaly with cystic kidney disease (CRB2)
• Alport syndrome 1, XL (COL4A5)
• Alport syndrome 2, AR (COL4A3)
• Alport syndrome 2, AR (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)
• Duane retraction syndrome 3 (MAFB)
• End-stage renal disease, nondiabetic, susceptibility to (APOL1)
• Epidermolysis bullosa of hands + feet (ITGB4)
• Epidermolysis bullosa simplex 7, with nephropathy + deafness (CD151)
• Epidermolysis bullosa, junctional, non-Herlitz type (ITGB4)
• Epidermolysis bullosa, junctional, with pyloric atresia (ITGB4)
• Epilepsy, progressive myoclonic 4, with/-out renal failure (SCARB2)
• Focal segmental glomerulosclerosis 10 (LMX1B)
• Focal segmental glomerulosclerosis 8 (ANLN)
• Focal segmental glomerulosclerosis 9 (CRB2)
• Focal segmental glomerulosclerosis [genereviews] (ARHGAP24)
• 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)
• 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)
• Hematuria, benign familial (COL4A3)
• Hematuria, familial benign (COL4A4)
• Interstitial lung disease, nephrotic syndrome + epidermolysis bullosa, congenital (ITGA3)
• Interstitial lung disease, nephrotic syndrome, epidermolysis bullosa, congenita (ITGA3)
• Macrothrombocytopenia + granulocyte inclusions +/- nephritis or sensorineural hearing loss (MYH9)
• Multicentric carpotarsal osteolysis syndrome (MAFB)
• Nephronophthisis 12 (TTC21B)
• Nephrotic syndrome (LAMA5)
• Nephrotic syndrome (PODXL)
• Nephrotic syndrome (TNS2)
• 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 22 (NOS1AP)
• 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 syn ADCK4)
• Papillorenal syndrome (PAX2)
• Pierson syndrome (LAMB2)
• Schimke immunoosseous dysplasia (SMARCAL1)
• Steroid-resistant nephrotic syndrome, nonsyndromic [genereviews] (ANKFY1)
• Steroid-resistant nephrotic syndrome, nonsyndromic [genereviews] (GAPVD1)
• Steroid-resistant nephrotic syndrome, nonsyndromic [genereviews] (XPO5)
• Steroid-resistant nephrotic syndrome, syndromic [genereviews] (E2F3)
• Steroid-resistant nephrotic syndrome, syndromic [genereviews] (MAFB)
• Steroid-resistant nephrotic syndrome, syndromic [genereviews] (NXF5)
• Syndactyly with/-out nephropathy [panelapp] (FAT1)