IllnessNephrotic syndrome, infantile, Steroid-resistant; DD expanded panel
Summary
Comprehensive differential diagnostic panel for Nephrotic syndrome, infantile, Steroid-resistant (large panel) containing 8 more frequently mutated core candidate genes and altogether 85 curated genes according to the clinical signs
194,1 kb (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
NGS +
{Sanger]
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
COQ8B | 1512 | NM_001142555.3 | AR | |
INF2 | 3750 | NM_022489.4 | AD | |
LAMB2 | 5397 | NM_002292.4 | AR | |
NPHS1 | 3726 | NM_004646.4 | AR | |
NPHS2 | 1152 | NM_014625.4 | AR | |
PLCE1 | 6909 | NM_016341.4 | AR | |
TRPC6 | 2796 | NM_004621.6 | AD | |
WT1 | 1569 | NM_024426.6 | AD | |
ACTN4 | 2736 | NM_004924.6 | AD | |
ANLN | 3375 | NM_018685.5 | AD | |
APOE | 954 | NM_000041.4 | AD | |
APOL1 | 1197 | NM_001136540.2 | AR | |
ARHGDIA | 615 | NM_001185077.3 | AR | |
CD151 | 762 | NM_001039490.2 | AR | |
CD2AP | 1920 | NM_012120.3 | AR | |
COL4A3 | 5013 | NM_000091.5 | AD, AR | |
COL4A4 | 5073 | NM_000092.5 | AD, AR | |
COL4A5 | 5058 | NM_000495.5 | XL | |
COQ2 | 1266 | NM_015697.9 | AR | |
COQ6 | 1407 | NM_182476.3 | AR | |
CRB2 | 3858 | NM_173689.7 | AR | |
CUBN | 10872 | NM_001081.4 | AR | |
DAAM2 | 3456 |
| NM_001201427.2 | AR |
DGKE | 1704 | NM_003647.3 | AR | |
DLC1 | 3054 | NM_182643.3 | AR | |
EMP2 | 504 | NM_001424.6 | AR | |
FAT1 | 13767 | NM_005245.4 | AR | |
FN1 | 7068 | NM_002026.4 | AD | |
GLA | 1290 | NM_000169.3 | XL | |
GON7 | 305 | NM_032490.5 | AR | |
ITGA3 | 3156 | NM_002204.4 | AR | |
ITSN1 | 5166 | NM_003024.3 | AR | |
ITSN2 | 3750 | NM_147152.3 | n.k. | |
KANK2 | 2556 | NM_001136191.3 | AR | |
KIRREL1 | 2337 | NM_018240.7 | AR | |
LAGE3 | 435 | NM_006014.4 | XLR | |
LAMA5 | 11088 | NM_005560.6 | AR | |
LMNA | 1995 | NM_170707.4 | n.k. | |
LMX1B | 1188 | NM_002316.4 | AD | |
MAGI2 | 4368 | NM_012301.4 | AR | |
MYH9 | 5883 | NM_002473.6 | AD | |
MYO1E | 3327 | NM_004998.4 | AR | |
NEU1 | 1248 | NM_000434.4 | AR | |
NPHP4 | 4281 | NM_015102.5 | AR | |
NUP107 | 2778 | NM_020401.4 | AR | |
NUP133 | 3497 | NM_018230.3 | AR | |
NUP85 | 2288 | NM_024844.5 | AR | |
NUP93 | 2665 | NM_014669.5 | AR | |
OSGEP | 1019 | NM_017807.4 | AR | |
PAX2 | 1254 | NM_003987.5 | AD | |
PDSS2 | 1200 | NM_020381.4 | AR | |
PODXL | 1677 | NM_001018111.3 | AD | |
PTPRO | 3651 | NM_030667.3 | AR | |
SCARB2 | 1437 | NM_005506.4 | AR | |
SGPL1 | 1721 | NM_003901.4 | AR | |
SMARCAL1 | 2865 | NM_001127207.2 | AR | |
TBC1D8B | 3504 | NM_017752.3 | XL | |
TNS2 | 4260 | NM_015319.2 | AR | |
TP53RK | 762 | NM_033550.4 | AR | |
TPRKB | 650 | NM_016058.5 | AR | |
TTC21B | 3951 | NM_024753.5 | AR, AD | |
WDR73 | 1137 | NM_032856.5 | AR | |
YRDC | 845 | NM_024640.4 | AR |
Informations about the disease
Steroid-resistant nephrotic syndrome (SRNS) is defined as nephrotic syndrome (NS) that is unresponsive to steroid therapy. The majority of children presenting with idiopathic NS have minimal disease that is responsive to steroid therapy. However, 10-20% of patients do not respond to initial steroid treatment. One-third of steroid-resistant cases are due to single gene mutations that affect glomerular podocyte structure and/or function. Patients with genetic forms of SRNS usually do not respond to immunosuppressive therapy, the disease progresses rapidly, and the risk of disease relapse is low. Therefore, therapeutic decisions in children with SRNS are based on the underlying etiology. 50% of patients with SRNS will progress to end-stage renal disease. The DNA diagnostic yield is 30% in SRNS. A negative molecular genetic result does not constitute exclusion of the clinical diagnosis.
- Alias: Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
- Alias: Steroid-resistent nephrotic syndrome, SRNS
- Alias: focal segmental glomerulosclerosis, FSGS
- Allelic: Alzheimer disease 2 (APOE)
- Allelic: Alzheimer disease, protection against, due to APOE3-Christchurch (APOE)
- Allelic: Basal laminar drusen (CFH)
- Allelic: Cardiomyopathy, dilated, 1A (LMNA)
- Allelic: Cerebral palsy, spastic quadriplegic, 2 (KANK1)
- Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
- Allelic: Coronary artery disease, severe, susceptibility to (APOE)
- Allelic: Duane retraction syndrome 3 (MAFB)
- Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
- Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
- Allelic: Epidermolysis bullosa, junctional 5A, intermediate (ITGB4)
- Allelic: Epidermolysis bullosa, junctional 5B, with pyloric atresia (ITGB4)
- Allelic: Fish-eye disease (LCAT)
- Allelic: Heart-block disorder [panelapp] (NXF5)
- Allelic: Heart-hand syndrome, Slovenian type (LMNA)
- Allelic: Hutchinson-Gilford progeria (LMNA)
- Allelic: Hyperlipoproteinemia, type III (APOE)
- Allelic: Hypophosphatemic rickets (CLCN5)
- Allelic: Macular degeneration, age-related (APOE)
- Allelic: Macular degeneration, age-related, 4 (CFH)
- Allelic: Mandibuloacral dysplasia (LMNA)
- Allelic: Meacham syndrome (WT1)
- Allelic: Mesothelioma, somatic (WT1)
- Allelic: Multicentric carpotarsal osteolysis syndrome (MAFB)
- Allelic: Muscular dystrophy, congenital (LMNA)
- Allelic: Nail-patella syndrome (LMX1B)
- Allelic: Nephrolithiasis, type I (CLCN5)
- Allelic: Norum disease (LCAT)
- Allelic: Palmoplantar keratoderma + woolly hair (KANK2)
- Allelic: Restrictive dermopathy 1 (ZMPSTE24)
- Allelic: Restrictive dermopathy 2 (LMNA)
- Allelic: Sea-blue histiocyte disease (APOE)
- Allelic: Wilms tumor, type 1 (WT1)
- Complement factor H deficiency (CFH)
- Congenital disorder of glycosylation, type Ia (PMM2)
- Congenital disorder of glycosylation, type Ik (ALG1)
- Dent disease 1 (CLCN5)
- Dent disease 2 (OCRL)
- Denys-Drash syndrome (WT1)
- Fabry disease (GLA)
- Fabry disease, cardiac variant (GLA)
- Focal segmental Glomerulosklerosis [panelapp] (LMNA)
- Focal segmental glomerulosclerosis + neurodevelopmental syndrome (TRIM8)
- Focal segmental glomerulosclerosis 10 (LMX1B)
- Focal segmental glomerulosclerosis [panelapp] (ARHGAP24)
- Focal segmental glomerulosclerosis [panelapp] (NXF5)
- Focal segmental glomerulosclerosis [panelapp] (SYNPO)
- Focal segmental glomerulosklerosis [panelapp] with Duane retraction syndrome (MAFB)
- Frasier syndrome (WT1)
- Galloway-Mowat syndrome 2, XL (LAGE3)
- Galloway-Mowat syndrome 3 (OSGEP)
- Galloway-Mowat syndrome 5 (TPPRKB)
- Galloway-Mowat syndrome 8 (NUP133)
- Galloway-Mowat syndrome [MONDO:0009627] (GON7)
- Galloway-Mowat syndrome [panelapp] (YRDC)
- Glomerulosclerosis, focal segmental, 1 (ACTN4)
- Glomerulosclerosis, focal segmental, 2 (TRPC6)
- Glomerulosclerosis, focal segmental, 3 (CD2AP)
- Glomerulosclerosis, focal segmental, 5 (INF2)
- Glomerulosclerosis, focal segmental, 6 (MYO1E)
- Glomerulosclerosis, focal segmental, 7 (PAX2)
- Glomerulosclerosis, focal segmental, 8 (ANLN)
- Glomerulosclerosis, focal segmental, 9 (CRB2)
- Hemolytic uremic syndrome, atypical, susceptibility to, 1 (CFH)
- Hemolytic uremic syndrome, atypical, susceptibility to, 7 (DGKE)
- LCAT deficiency [panelapp] (LCAT)
- Lipodystrophy, familial partial, type 2 (LMNA)
- Lipoprotein glomerulopathy (APOE)
- Lowe syndrome (OCRL)
- Malouf syndrome (LMNA)
- Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
- Methylmalonic aciduria and homocystinuria, cblC type (MMACHC)
- 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 23 (KIRREL1)
- Nephrotic syndrome, type 24 (DDAM2)
- 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)
- Pierson syndrome (LAMB2)
- Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis (CLCN5)
- Steroid sensitive resistant nephrotic syndrome [panelapp] (KANK1)
- Steroid-resistant nephrotic syndrome, nonsyndromic [genereviews] (ANKFY1)
- Steroid-resistant nephrotic syndrome, nonsyndromic [genereviews] (GAPVD1)
- Steroid-resistant nephrotic syndrome, syndromic [genereviews] (E2F3)
- AD
- AR
- XL
- XLR
- n.k.
- Multiple OMIM-Ps
Bioinformatics and clinical interpretation
No text defined