Focal Segmental Glomerulosclerosis 4, Susceptibility To; Fsgs4

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (Meyrier, 2005).For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (OMIM ).

Genes related to Focal Segmental Glomerulosclerosis 4, Susceptibility To; Fsgs4

APOL1

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Clinical Features

Phenotypes and symptoms related to Focal Segmental Glomerulosclerosis 4, Susceptibility To; Fsgs4

Proteinuria
Stage 5 chronic kidney disease
Nephrotic syndrome
Chronic kidney disease
Glomerulosclerosis
Focal segmental glomerulosclerosis

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Focal Segmental Glomerulosclerosis 4, Susceptibility To; Fsgs4 Is also known as end-stage renal disease, nondiabetic, susceptibility to, included.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

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Focal Segmental Glomerulosclerosis 4, Susceptibility To; Fsgs4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Apolipoprotein L1 (APOL1), Sequencing. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). APOL1 Specificity 100 % Genes 100 %
APOL1 Genotyping Panel A (2 Mutations). By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States). APOL1 Specificity 100 % Genes 100 %
Exome PLUS Proteinuria/FSGS & Hematuria. By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States). CFB, TRPC6, TSC1, TSC2, C1QA, C1QC, WT1, C3, NPHS2, ADAMTS13, ACTN4, PLCE1, CLCN5, COL4A3, COL4A4, COL4A5, INF2, DGKE, ALMS1, GLA , (...) View the complete list with 12 more genes Panel 2 complete gene list CFB, TRPC6, TSC1, TSC2, C1QA, C1QC, WT1, C3, NPHS2, ADAMTS13, ACTN4, PLCE1, CLCN5, COL4A3, COL4A4, COL4A5, INF2, DGKE, ALMS1, GLA, CFH, CFHR1, CFI, ITGB4, APOL1, LAMB2, LMX1B, CD46, MYH9, MYO1E, NPHS1, PAX2 Specificity 4 % Genes 100 %
APOL1 Genotyping. By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children (United States). APOL1 Specificity 100 % Genes 100 %
Glomerulosclerosis, focal segmental, 4, susceptibility to. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany). APOL1 Specificity 100 % Genes 100 %
End-stage renal disease, nondiabetic, susceptibility to. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany). APOL1 Specificity 100 % Genes 100 %
Hereditary kidney disorders - different panels. By Institute of Human Genetics Uniklinik RWTH Aachen (Germany). BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...) View the complete list with 386 more genes Panel 6 complete gene list BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC22A5, SLC25A13, SLC26A1, SLC2A2, SLC34A1, SLC3A1, SLC4A4, SLC5A2, SLC7A7, SLC7A9, SLC9A3R1, SMARCAL1, SOX18, STX16, SUCLA2, SUCLG1, TALDO1, TBC1D1, TBX18, HNF1A, HNF1B, THBD, TNXB, TRPC6, TSC1, TSC2, CEP41, UMOD, UPK3A, UROD, VDR, VHL, VPS33B, WNT4, WT1, XDH, IKZF1, C3, ARL6, NEK8, NPHS2, SLC2A9, IFT122, ADAMTS13, CA2, CACNA1D, CACNA1H, ANLN, CD2AP, TMEM237, WNK1, WNK4, CASR, CBS, IFT52, SALL4, TRAP1, CD19, MAGED2, TRIM32, BSND, ACTN4, SCARB2, ZNF423, CDC73, CFHR4, CFHR3, CD81, DICER1, PLCE1, RRM2B, LRBA, CDC5L, KAT6B, XPO5, SARS2, TNFRSF13C, CDKN1B, INVS, CEP83, SLC22A12, TRPM6, SLC22A10, SOX17, DCDC2, TNFRSF13B, MOCOS, SEC61A1, WDR19, HPSE2, IFT27, NUP205, CRB2, GRIP1, BBS7, SLC36A2, MMAA, COQ8B, NPHP4, CHD1L, KIF14, FRAS1, KANK1, MMAB, BICC1, SLC41A1, SBDS, CHRM3, EIF2AK4, EVC2, KIAA0586, GREM1, TTC8, TMEM260, CLCN5, COQ6, CLCNKA, CLCNKB, SLC34A3, CLDN10, CLDN16, CLDN19, APOPT1, LRIG2, SERAC1, SEC63, RMND1, IFT74, INPP5E, AHI1, WDR60, COL4A1, COL4A3, COL4A4, COL4A5, COX10, COX6B1, PEX26, LMBRD1, PDSS2, SLC16A12, ALG8, CR2, FREM1, INF2, B9D1, TACO1, TCTN3, MMACHC, DYNC2LI1, CFHR5, KANK3, CEP104, TMEM216, HOGA1, CTNS, MMADHC, COQ2, ARHGAP24, FREM2, ARL13B, CUBN, CUL3, TTC21B, OFD1, TCTN2, CPLANE1, CYP11B1, CYP11B2, WDR73, CYP17A1, CYP24A1, SDHAF2, TMEM127, TCTN1, CSPP1, BBS10, BBS12, CEP120, ANKS6, TMEM138, KANK4, FLCN, SLC6A19, WDPCP, XPNPEP3, BBIP1, CCDC28B, WDR34, TMEM67, CCNQ, GLIS3, DGKE, DHCR7, B9D2, DIS3L2, MAGT1, IQCB1, NUP93, CEP290, DSTYK, KIAA0556, IFT140, FASTKD2, RPGRIP1L, FAN1, CEP164, TBC1D24, WDR35, CC2D2A, IFT80, KANK2, DMP1, GLIS2, MAPKBP1, DYNC2H1, IFT43, NUP107, BBS9, SLC26A3, IFT172, KIF7, STRA6, POC1B, SLC6A20, EGF, EHHADH, EIF2AK3, EMP2, ENPP1, AGTR1, AGTR2, COA5, AGXT, ETFA, ETFB, ETFDH, EVC, EYA1, FAH, FAT1, FGA, FGF20, FGF23, FH, TMEM231, FN1, ALAD, FXYD2, G6PC, GALNT3, GALT, GANAB, GATA3, GCDH, GCM2, ALMS1, GLA, GLB1, GNAS, GRHPR, GUCY2C, HADHA, HADHB, CFH, CFHR1, CFHR2, HMBS, HMGCL, HNF4A, HPRT1, HRAS, HSD11B2, ICOS, CFI, IL21, ITGA3, ITGA8, APOL1, JAG1, JAK3, ANOS1, KCNA1, KCNJ1, KCNJ10, APRT, KCNJ5, KCNMB1, AQP2, KL, KLHL3, MAFB, LAMA5, LAMB2, LAMC1, LCAT, LIFR, ARG1, LMX1B, LRP2, LRP4, LRP5, LYZ, LZTFL1, ARHGDIA, ABCD4, MAGEC1, MAX, CD46, MEFV, MEN1, MET, MKKS, MKS1, MPL, MS4A1, ASL, MUC1, MMUT, MVK, MYH9, ASS1, MYO1E, NEK1, NF1, NF2, NFKB1, NFKB2, NOTCH2, NPC1, NPHP1, NPHP3, NPHS1, NR3C2, NRIP1, OCRL, OTC, ATP6V1B1, PAX2, PAX6, PCBD1, PCCA, PCCB, ATP6V0A4, ATP7B, PDE3A, PDE6D, PEX1, PEX10, PEX11B, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PGAM2, PGK1, AUH, PHEX, AVPR2, PIK3CA, PKD1, PKD2, PKHD1, PMM2, ACAT1, PRKAR1A, PRKCSH, PRPS1, PTH1R, BBS1, BBS2, PTPRO, BBS4, BBS5, PEX19, PEX2, PEX5, PYGM, RAD51C, RBM8A, REN, RET Specificity 1 % Genes 100 %
Nephrology Endocrinology and Electrolytes - panels. By MGZ Medical Genetics Center (Germany). ROBO2, SALL1, BLK, BMP4, BMP7, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC3A1, SLC7A9, SMARCAL1, HNF1A, HNF1B, KLF11, TRPC6, TSC1, TSC2, UMOD , (...) View the complete list with 95 more genes Panel 7 complete gene list ROBO2, SALL1, BLK, BMP4, BMP7, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC3A1, SLC7A9, SMARCAL1, HNF1A, HNF1B, KLF11, TRPC6, TSC1, TSC2, UMOD, UPK2, UPK3A, VHL, WNT4, WT1, ZIC3, ACTA2, NPHS2, ANLN, CD2AP, WNK1, WNK4, CASR, TRAP1, BSND, ACTN4, PLCE1, CDC5L, SOX17, HPSE2, CEL, CRB2, GRIP1, COQ8B, CHD1L, FRAS1, BICC1, CHRM3, GREM1, CLCN5, COQ6, CLCNKA, CLCNKB, LRIG2, SEC63, COL4A3, COL4A4, COL4A5, PDSS2, FREM1, INF2, APPL1, HOGA1, COQ2, COQ9, FREM2, CUL3, OFD1, CYP24A1, DACH1, DGKE, DSTYK, EMP2, AGTR1, AGXT, ETV5, EYA1, FGF20, GATA3, GCK, GLA, ALPL, GRHPR, HNF4A, NOD2, ABCC8, INS, PDX1, ITGA3, ITGA8, APOL1, ANOS1, KCNJ1, KCNJ10, KCNJ11, KLHL3, LAMB2, LMX1B, ARHGDIA, MUC1, MYH9, MYO1E, NEUROD1, NPHS1, OCRL, PAX2, PAX4, PAX8, PKD1, PKD2, PKHD1, PRKCSH, PTPRO, REN, RET Specificity 1 % Genes 100 %