Nephrotic Syndrome, Type 12; Nphs12

Table of contents:

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

Description

Nephrotic syndrome type 12 is an autosomal recessive renal disorder caused by defects in the renal glomerular filter. Affected individuals have onset of progressive renal failure in the first years of life. Renal biopsy typically shows focal segmental glomerulosclerosis (FSGS) (summary by Braun et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (OMIM ).

Genes related to Nephrotic Syndrome, Type 12; Nphs12

NUP93

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Clinical Features

Top most frequent phenotypes and symptoms related to Nephrotic Syndrome, Type 12; Nphs12

Renal insufficiency
Abnormality of the kidney
Stage 5 chronic kidney disease
Hematuria
Nephrotic syndrome
Chronic kidney disease
Glomerulosclerosis
Focal segmental glomerulosclerosis
Diffuse mesangial sclerosis
Steroid-resistant nephrotic syndrome

And another 1 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including childhood onset .

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.

Nephrotic Syndrome, Type 12; Nphs12 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, TP53RK, ACTN4, SCARB2, PLCE1, XPO5, OSGEP, NUP205, CRB2, MAGI2, COQ8B, KANK1, COQ6, COL4A3 , (...) View the complete list with 29 more genes Panel complete gene list SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, TP53RK, ACTN4, SCARB2, PLCE1, XPO5, OSGEP, NUP205, CRB2, MAGI2, COQ8B, KANK1, COQ6, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2, INF2, TPRKB, COQ2, ARHGAP24, CUBN, TTC21B, WDR73, LAGE3, KANK4, DGKE, NUP93, KANK2, NUP107, EMP2, FAT1, ITGA3, ITGB4, LAMA5, LAMB2, LMX1B, ARHGDIA, MYO1E, NPHS1, PAX2, PTPRO Specificity 3 % Genes 100 %
Steroid-Resistant Nephrotic Syndrome via NUP93 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). NUP93 Specificity 100 % Genes 100 %
Nephrotic syndrome and related disorders Comprehensive panel. By Connective Tissue Gene Tests (United States). SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, ACTN4, SCARB2, PLCE1, NUP205, CRB2, MAGI2, COQ8B, COQ6, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2 , (...) View the complete list with 22 more genes Panel complete gene list SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, ACTN4, SCARB2, PLCE1, NUP205, CRB2, MAGI2, COQ8B, COQ6, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2, INF2, COQ2, ARHGAP24, CUBN, TTC21B, WDR73, DGKE, NUP93, KANK2, NUP107, EMP2, FN1, ITGA3, ITGB4, LAMB2, LMX1B, ARHGDIA, MEFV, MYO1E, NPHS1, PAX2, PTPRO Specificity 3 % Genes 100 %
Nephrotic syndrome and related disorders NGS panel. By Connective Tissue Gene Tests (United States). SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, ACTN4, SCARB2, PLCE1, NUP205, CRB2, MAGI2, COQ8B, COQ6, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2 , (...) View the complete list with 22 more genes Panel complete gene list SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, ACTN4, SCARB2, PLCE1, NUP205, CRB2, MAGI2, COQ8B, COQ6, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2, INF2, COQ2, ARHGAP24, CUBN, TTC21B, WDR73, DGKE, NUP93, KANK2, NUP107, EMP2, FN1, ITGA3, ITGB4, LAMB2, LMX1B, ARHGDIA, MEFV, MYO1E, NPHS1, PAX2, PTPRO Specificity 3 % Genes 100 %
Nephrotic syndrome and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, ACTN4, SCARB2, PLCE1, NUP205, CRB2, MAGI2, COQ8B, COQ6, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2 , (...) View the complete list with 22 more genes Panel complete gene list SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, ACTN4, SCARB2, PLCE1, NUP205, CRB2, MAGI2, COQ8B, COQ6, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2, INF2, COQ2, ARHGAP24, CUBN, TTC21B, WDR73, DGKE, NUP93, KANK2, NUP107, EMP2, FN1, ITGA3, ITGB4, LAMB2, LMX1B, ARHGDIA, MEFV, MYO1E, NPHS1, PAX2, PTPRO Specificity 3 % 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 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 %
NUP93. By Fulgent Genetics Fulgent Genetics (United States). NUP93 Specificity 100 % Genes 100 %
KidneySeq - 264 Genes. By Iowa Institute of Human Genetics University of Iowa (United States). ROBO2, CNNM2, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, BMP4, SEMA3E, SGPL1, SIX1, SIX2, SIX5, SLC12A1, SLC17A5, SLC2A2, SLC34A1, SLC3A1, SLC4A4 , (...) View the complete list with 230 more genes Panel complete gene list ROBO2, CNNM2, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, BMP4, SEMA3E, SGPL1, SIX1, SIX2, SIX5, SLC12A1, SLC17A5, SLC2A2, SLC34A1, SLC3A1, SLC4A4, SLC5A1, SLC5A2, SLC7A9, SLC9A3R1, SLIT2, SMARCAL1, TBX18, HNF1B, TNFRSF1A, TNXB, TRPC6, TSC1, TSC2, CEP41, TTR, UMOD, UPK3A, VDR, VHL, VPS33B, WNT4, WT1, XDH, ZMPSTE24, ARL6, NEK8, NPHS2, SLC2A9, IFT122, CA2, CACNA1D, CACNA1H, ANLN, CD2AP, TMEM237, WNK1, WNK4, CASR, SALL4, TRAP1, CD151, MAGED2, TRIM32, NLRP3, BSND, ACTN4, SCARB2, ZNF423, PLCE1, SRGAP1, XPO5, SARS2, INVS, CEP83, SLC22A12, TRPM6, SOX17, KCTD1, ALG1, WDR19, IFT27, NUP205, CRB2, GRIP1, BBS7, COQ8B, NPHP4, CHD1L, KIF14, SLC41A1, GREM1, TTC8, CLCN5, COQ6, CLCNKA, CLCNKB, SLC34A3, VIPAS39, CLDN16, CLDN19, CHD7, ADCY10, IFT74, INPP5E, KIF12, AHI1, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2, FREM1, CREBBP, DHTKD1, INF2, B9D1, TCTN3, C2CD3, TMEM216, HOGA1, CTNS, COQ2, ARHGAP24, FREM2, ARL13B, CUBN, CUL3, TTC21B, OFD1, TCTN2, CPLANE1, CYP11B1, WDR73, CYP24A1, TCTN1, CSPP1, BBS10, DACH1, BBS12, ANKS6, TMEM138, C8orf37, WDPCP, XPNPEP3, BBIP1, TMEM107, TMEM67, DGKE, DHCR7, B9D2, IQCB1, NUP93, DLC1, DLG1, CEP290, DSTYK, IFT140, RPGRIP1L, FAN1, CEP164, WDR35, CC2D2A, IFT80, DMP1, GLIS2, DYNC2H1, IFT43, NUP107, BBS9, IFT172, KIF7, E2F3, EGF, EHHADH, EMP2, ENPP1, AGTR1, AGXT, EYA1, FAH, FAT1, FGA, FGF20, FGF23, FGFR1, FN1, FOXP1, FXYD2, GATA3, GDNF, ALMS1, GLA, GLI3, GPC3, GRHPR, GSN, HNF4A, HPRT1, HSD11B2, CFI, APOE, ITGA3, ITGA8, ITGB4, APOL1, JAG1, ANOS1, KCNJ1, KCNJ10, APRT, KCNJ5, AQP2, KLHL3, LAMB2, LMNA, LMX1B, LYZ, LZTFL1, ARHGDIA, MEFV, MKKS, MKS1, MYH9, MYO1E, NEK1, NOTCH2, NPHP1, NPHP3, NPHS1, NR3C2, OCRL, ATP6V1B1, PAX2, PBX1, ATP6V0A4, ATP7B, PHEX, AVPR2, PKD1, PKD2, PKHD1, PMM2, B2M, BBS1, BBS2, PTPRO, BBS4, BBS5, RET Specificity 1 % Genes 100 %

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Sources and references

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