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

Amiloidosis hereditaria por transtiretina

1 genes

TTR

Cirrosis

120 genes

ABCB11, ABCB4, ABHD5, ACVRL1, AGPAT2, AKR1D1, ALDOB, ALMS1, AMACR, AP1B1, AP1S1, APC, APOE, ARHGAP31, ASS1, ATP6AP1, ATP7B, ATP8B1, AXIN1, BCS1L, BMP2, BSCL2, CASP8, CAV1, CAVIN1, CC2D2A, CCDC115, CD40LG, COG4, COG6, CTC1, CTNNB1, CYP7B1, DCDC2, DGUOK, DKC1, DLL4, DOCK6, ENG, EOGT, F5, FAH, FARSB, FECH, GALT, GBA, GBE1, GDF2, GLRX5, HAMP, HBB, HFE, HJV, HSD3B7, IFT43, IGF2R, IL12RB1, IL21R, INPP5E, IRF5, ITCH, JAG1, JAK2, KRT18, KRT8, LBR, LIPA, MARS1, MET, MPI, MPV17, MUC5B, NGLY1, NHP2, NOP10, NOTCH1, NPHP3, NPM1, NR1H4, PARN, PDGFRL, PEX1, PHKA2, PHKG2, PIGA, PIK3CA, POLG, PPARG, PYGL, RBPJ, RPGRIP1L, RRM2B, RTEL1, SCARB2, SERPINA1, SFTPA2, SFTPC, SKIV2L, SLC25A13, SLC30A10, SLC40A1, SLC7A7, SMAD4, SMPD1, TALDO1, TCF4, TERT, TFAM, TFR2, TINF2, TMEM67, TNPO3, TP53, TREX1, TRMT5, TTC37, TYMP, UROD, USB1, WRAP53

Colestasis

103 genes

ABCB11, ABCB4, ABCC2, ABCC3, ABCG5, ABCG8, ADK, AKR1D1, ALDOB, ALG8, AMACR, ANKS6, AP1S1, APOA1, ATP7B, ATP8B1, B2M, BAAT, BCS1L, BLVRA, CC2D2A, CFTR, CLDN1, COG6, COG7, CYP27A1, CYP7A1, CYP7B1, DCDC2, DGUOK, DHCR7, EPHX1, FAH, FARSB, FGA, FH, FOXA2, G6PD, GFM1, GLIS3, GNAS, GPBAR1, HADHA, HFE, HNF1B, HSD17B4, HSD3B7, IARS1, IFT140, IFT172, INSR, INVS, JAG1, LIPA, LYZ, MKS1, MPV17, MYO5B, NEK8, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR1H4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PKHD1, POLG, POLG2, POMC, SERPINA1, SLC10A1, SLC10A2, SLC25A13, SLC27A5, SLC30A10, SLCO1B1, SLCO1B3, SMPD1, TFAM, TJP2, TMEM216, TRMU, TTC37, UGT1A1, UTP4, VIPAS39, VPS33B, WDR35

Colestasis intrahepática

13 genes

ABCB11, ABCB4, ABCC2, AKR1D1, ATP8B1, CYP7B1, HSD3B7, JAG1, NOTCH2, NR1H4, SERPINA1, SLC25A13, TJP2

Diarrea congénita

32 genes

ADAM17, ALPI, CYP27A1, DGAT1, EPCAM, FOXP3, GUCY2C, IL10, IL10RA, IL10RB, IL21, LCT, LIPA, MTTP, MVK, MYO5B, NCF2, NEUROG3, PLVAP, SAR1B, SI, SKIV2L, SLC10A2, SLC26A3, SLC39A4, SLC5A1, SLC9A3, SPINT2, STX3, TTC37, TTC7A, XIAP

Dismotilidad gastrointestinal

21 genes

ACTG2, CDK4, CFTR, CLMP, DHCR7, FLNA, FLVCR1, FUS, HMGA2, IDS, MDM2, POLG, RET, RRM2B, SAMD9, SON, SOX10, TGFB1, TXN2, TYMP, WFS1

Enfermedad de Hirschsprung

24 genes

ASCL1, BDNF, CELSR3, CYP2B6, ECE1, EDN3, EDNRB, GDNF, GEMIN2, KIFBP, L1CAM, MITF, NRG1, NRG3, NRTN, NTRK1, PAX3, PHOX2B, RET, SEMA3A, SEMA3C, SEMA3D, SOX10, ZEB2

Enfermedad inflamatoria intestinal

56 genes

ABCB1, ADA, ADAM17, AICDA, ATG16L1, BTK, CD3G, CD40LG, CTLA4, CYBA, CYBB, DCLRE1C, DKC1, DOCK8, FOXP3, G6PC3, ICOS, IL10, IL10RA, IL10RB, IL21, IL23R, IL2RA, IL2RG, IL6, INAVA, IRF5, IRGM, ITGB2, LIG4, LRBA, MEFV, MVK, NCF1, NCF2, NCF4, NFAT5, NLRC4, NOD2, PIK3CD, PIK3R1, PLCG2, RAG1, RAG2, RIPK1, RTEL1, SH2D1A, SLC37A4, STAT1, STAT3, STIM1, STXBP2, TTC7A, WAS, XIAP, ZAP70

Fallo hepático infantil

3 genes

LARS1, NBAS, TRMU

Pancreatitis hereditaria

11 genes

APOA5, APOC2, CASR, CFTR, CLDN2, CPA1, CTRC, GPIHBP1, PRSS1, SPINK1, UBR1

Poliquistosis hepática

9 genes

ALG8, DNAJB11, GANAB, LRP5, PKD1, PKD2, PKHD1, PRKCSH, SEC63

Síndrome de Alagille

2 genes

JAG1, NOTCH2