



Nephrology

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