top of page
_edited_edited_edited_edited.png

Nephrology

Spinner-1s-200px (2).gif

Resultado búsqueda

Amiloidosis familiar

21 genes

APOA1, APOA2, APP, B2M, CST3, F10, FGA, GPNMB, GSN, IL31RA, ITM2B, LYZ, MEFV, NLRP3, OSMR, PRNP, RET, TACSTD2, TGFBI, TNFRSF1A, TTR

Anomalías congénitas del riñón y el tracto urinario

66 genes

ACE, AGT, AGTR1, ANOS1, ARL6, ATRX, BCOR, BMP4, CEP55, CHD1L, CHD7, DHCR7, DSTYK, EYA1, FANCB, FGF20, FGFR1, FGFR2, FRAS1, FREM1, FREM2, GATA3, GDNF, GLI3, GREB1L, GRIP1, HNF1B, HPSE2, ITGA8, KCTD1, KIF14, LRP4, MKS1, MUC1, MYH9, NAA10, NIPBL, NPHP3, PAX2, PBX1, PKHD1, PUF60, REN, RET, ROBO2, SALL1, SALL4, SDCCAG8, SEMA3E, SIX1, SIX2, SIX5, SLIT2, SOX17, SPRY1, TBX18, TCTN3, TFAP2A, TP63, TRAP1, UMOD, UPK3A, WDR19, WNT3, WNT4, WT1

CAKUT

85 genes

AGT, AGTR1, AGTR2, ANOS1, BMP4, BMP7, BNC2, BSND, CCNQ, CDC5L, CENPF, CEP55, CHD1L, CHRNA3, CTU2, DACT1, DHCR7, DSTYK, EXOC3L2, EYA1, FAT4, FBN2, FGF20, FGFR2, FOXP1, FRAS1, FREM1, FREM2, GATA3, GLI2, GLI3, GPC3, GREB1L, GREM1, GRIP1, HAAO, HNF1B, HOXA13, HOXA4, HOXB6, HPSE2, ITGA8, JAG1, KDM6A, KMT2D, KYNU, LIFR, LRP4, MUC1, MYOCD, NADSYN1, NIPBL, NOTCH2, NPHP3, NRIP1, PAX2, PBX1, REN, RET, ROBO1, ROBO2, ROR2, RPGRIP1L, RRM2B, SALL1, SALL4, SIX1, SIX2, SIX5, SLIT2, SOX11, SOX17, SRGAP1, STRA6, TBC1D1, TBX18, TFAP2A, TRAP1, UMOD, UPK3A, VPS33B, VWA2, WNT4, WNT5A, ZIC3

Enfermedad de Dent

5 genes

CLCN5, LRP2, OCRL, PHETA1, PHETA2

Enfermedad glomerular

69 genes

ACSL4, ACTN4, ALG1, ANLN, APOE, APOL1, ARHGAP24, ARHGDIA, CD2AP, CFH, CLCN5, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ8B, CRB2, DGKE, EMP2, FAN1, FAT1, FN1, G6PC, INF2, ITGA3, ITGB4, KANK1, KANK2, KANK4, LAMA5, LAMB2, LMNA, LMX1B, MAGI2, MYH9, MYO1E, NARS2, NEIL1, NPHP4, NPHS1, NPHS2, NUP107, NUP205, NUP93, NXF5, PAX2, PDSS2, PLCE1, PMM2, PODXL, PTPRO, REN, SCARB2, SEC61A1, SGPL1, SLC37A4, SMARCAL1, SYNPO, TRPC6, TTC21B, VPS33A, WDR73, WT1, XPNPEP3, XPO5, ZEB1, ZMPSTE24, ZNF592

Enfermedad renal tubulointersticial

29 genes

ACE, ACP5, ALMS1, BCS1L, BSND, CCN3, CCR5, CEP83, CTNS, FAN1, FOXC2, GLIS2, HLA-DRB1, HNF1B, IFT122, INVS, MMUT, MUC1, NPHP1, NPHP3, NPHP4, PTPRO, REN, SEC61A1, TINAG, TINAGL1, TRAF3IP1, UMOD, WDR19

Glomeruloesclerosis focal segmentaria

30 genes

ACTN4, ANLN, APOL1, CD2AP, CLCN5, COQ6, COQ8B, CRB2, G6PC, INF2, ITGA3, MYO1E, NARS2, NPHS2, NUP107, NUP205, NUP93, PAX2, PLCE1, PTPRO, REN, SCARB2, SEC61A1, SLC37A4, SMARCAL1, TRPC6, VPS33A, WDR73, WT1, ZNF592

Hematuria benigna familiar

3 genes

COL4A3, COL4A4, COL4A5

Hiperoxaluria

19 genes

AGXT, CCL2, CCL5, GRHPR, HAO1, HAO2, HAVCR1, HOGA1, IL6, NFKB1, PAX2, PEX1, RAP1A, RET, RUNX2, SAT1, SLC26A1, SLC26A6, SLC38A1

Hipouricemia renal familiar

9 genes

HNF4A, MOCOS, MOCS1, MOCS2, PNP, SLC22A12, SLC2A2, SLC2A9, XDH

Nefrocalcinosis

84 genes

ABCC6, AGXT, ALMS1, ALPL, AMMECR1, APRT, ATP6V0A4, ATP6V1B1, BSND, BTNL2, CA2, CASR, CDC73, CDKN1C, CLCN5, CLCNKB, CLDN10, CLDN16, CLDN19, CLPB, CNNM2, CNNM4, COL4A3, CYP24A1, DNAJC21, EGF, ELN, ENPP1, FAH, FAM111A, FAM20A, FUT8, FXYD2, GALNT3, GATA3, GCM2, GNA11, GRHPR, HLA-DRB1, HNF1B, HNF4A, HOGA1, HPRT1, HSD11B2, IGF2, KCNA1, KCNJ1, KCNJ10, KCNQ1, MAGED2, MAGT1, MEFV, MEN1, MPV17, MYO5B, NIPA2, OCRL, PCBD1, PEX3, PHEX, PIGT, PTH1R, SARS2, SBDS, SLC12A1, SLC12A3, SLC22A12, SLC26A1, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC7A9, SRCAP, SRP54, STRADA, TBC1D24, TRNT1, TRPM6, VIPAS39, VPS33B, XDH, ZNF687

Nefronoptisis y multiquistosis renal

38 genes

AHI1, ANKS6, CC2D2A, CD151, CEP164, CEP290, CEP83, COL4A3, COL4A4, COL4A5, COL4A6, DCDC2, DNAJB11, GANAB, GLA, GLIS2, HNF1B, IFT172, INVS, IQCB1, MUC1, MYH9, NEK8, NPHP1, NPHP3, NPHP4, PKD2, PKHD1, REN, RPGRIP1L, SDCCAG8, SEC61A1, TMEM67, TTC21B, UMOD, WDR19, XPNPEP3, ZNF423

Nefropatía

49 genes

ACTN4, COQ8B, ALG1, ANLN, ALMS1, APOL1, ARHGAP24, ARHGDIA, CD151, CD2AP, CFH, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ7, COQ9, CRB2, CUBN, DGKE, E2F3, EMP2, INF2, ITGA3, ITGB4, KANK2, LAMB2, LMX1B, MED28, MYH9, MEFV, MYO1E, NPHS1, NPHS2, NUP205, NUP93, NXF5, PDSS2, PLCE1, PMM2, PTPRO, SCARB2, SMARCAL1, TRPC6, WDR73, WT1, XPO5, ZMPSTE24

Nefropatía Tubulointersticial Autosómica Dominante

5 genes

MUC1, UMOD, HNF1B, REN, SEC61A1

Proteinuria

85 genes

ACE, ACTN4, ADAMTS13, AGT, ANLN, APOA1, APOE, APOL1, ARHGDIA, ATP7B, B2M, C3, CD2AP, CFH, CFI, CLCN5, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ8B, COX10, COX6B1, CTLA4, CTNS, CTSL, CUBN, DGKE, EHHADH, ERCC6, ERCC8, FAN1, FASTKD2, FGA, FN1, G6PC, GLA, HMOX1, HNF1B, HNF4A, HPSE2, INF2, ITGA3, ITGB4, KIF1B, LAMB2, LCAT, LMX1B, LRP2, LYZ, MAFB, MEFV, MMACHC, MYH9, MYO1E, NEU1, NOS3, NOTCH2, NPHS1, NPHS2, NR3C2, NUP107, OCRL, PAX2, PDSS2, PLCE1, PMM2, PTPN22, PTPRO, RET, SARS2, SCARB2, SCO1, SDHB, SDHD, SLC37A4, SMARCAL1, TACO1, TGFB1, TREX1, TRPC6, VHL, WDR73, WT1

Síndrome braquio-oto-renal

6 genes

COL2A1, EYA1, FOXL2, SALL1, SIX1, SIX5

Síndrome de Alport

6 genes

CD151, COL4A3, COL4A4, COL4A5, COL4A6, MYH9

Síndrome de Fanconi renal

9 genes

BCS1L, CTNS, FAH, HNF4A, IGF2R, LRP2, OCRL, SLC2A2, SLC34A1

Síndrome de Joubert

46 genes

AHI1, ARL13B, ARL3, ARMC9, ATF4, B9D1, B9D2, C2CD3, CC2D2A, CEP104, CEP120, CEP164, CEP290, CEP41, CFAP410, CPLANE1, CSPP1, HYLS1, IFT172, INPP5E, KIAA0556, KIAA0586, KIAA0753, KIF14, KIF7, LCA5, MKS1, NPHP1, NPHP3, OFD1, PDE6D, PIBF1, POC1B, RPGRIP1L, SUFU, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423

Síndrome de Meckel

13 genes

B9D1, B9D2, CC2D2A, CEP290, KIF14, MKS1, NPHP3, RPGRIP1L, TCTN2, TMEM107, TMEM216, TMEM231, TMEM67

Síndrome de Senior-Loken

10 genes

CEP164, CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19

Síndrome hemolítico urémico

12 genes

ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR3, CFHR4, CFHR5, CFI, DGKE, THBD

Síndrome nefrótico

65 genes

ACE, ACTN4, ADA, ANLN, APOA1, APOL1, ARHGAP24, ARHGDIA, B2M, C3, CASP10, CD2AP, CFH, CMIP, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ8B, CRB2, CUBN, DGKE, EMP2, FAT1, FGA, FN1, GATA3, GSN, INF2, ITGA3, ITGB4, KANK1, KANK2, KANK4, LAMB2, LMX1B, LYZ, MAF, MAGI2, MEFV, MPV17, MYH9, MYO1E, NPHS1, NPHS2, NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, PAX2, PDSS2, PLCE1, PMM2, PRKCD, PTPRO, SCARB2, SLC17A5, SMARCAL1, TRPC6, TTC21B, WDR73, WT1

Síndromes de Bartter y Gitelman

27 genes

ATP6V1B1, BSND, CA2, CASR, CLCNKA, CLCNKB, CLDN16, CLDN19, FXYD2, GNA11, HSD11B2, KCNJ1, KCNJ10, KLHL3, MAGED2, NR3C2, SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A2, SLC12A3, SLC4A1, SLC4A4, TRPM6, WNK1, WNK4

bottom of page