SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT02417740

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Natural History of Noncirrhotic Portal Hypertension

Background: - Noncirrhotic Portal Hypertension (NCPH) is caused by liver diseases that increase pressure in the blood vessels of the liver. It seems to start slowly and not have many warning signs. Many people may not even know that they have a liver disease. There are no specific treatments for NCPH. Objectives: - To learn more about how NCPH develops over time. Eligibility: - People age 12 and older who have NCPH or are at risk for getting it. In the past year, they cannot have had other types of liver disease that typically result in cirrhosis, liver cancer, or active substance abuse. Design: - Participants will have 2 screening visits. - Visit 1: to see if they have or may develop NCPH. - Medical history - Physical exam - Urine and stool studies - Abdominal ultrasound - Fibroscan. Sound waves measure liver stiffness. - Visit 2: - Blood tests - Abdominal MRI - Echocardiogram - Questionnaire - Liver blood vessel pressure (hepatic venous portal gradient (HVPG)) measurement. This is done with a small tube inserted in a neck vein. - They may have a liver biopsy. - All participants will visit the clinic every 6 months for a history, physical exam, and blood tests. They will also repeat some of the screening tests yearly. - Participants with NCPH will also have: - Upper endoscopy test. A tube inserted in the mouth goes through the esophagus and stomach. - At least every 2 years: Esophagogastroduodenoscopy. - At least every 4 years: testing including HVPG measurements and liver biopsy. - Participants without NCPH will also have: - Liver biopsy and HVPG measurements to see if they have NCPH. - Every 2 years: abdominal MRI and stool studies. - The study will last indefinitely.

NCT02417740 Cystic Fibrosis Immunologic Deficiency Syndrome Turner Syndrome Congenital Hepatic Fibrosis Idiopathic Non-Cirrhotic Portal Hypertension
MeSH: Syndrome Hypertension Fibrosis Cystic Fibrosis Hypertension, Portal Turner Syndrome Gonadal Dysgenesis Primary Ovarian Insufficiency Immunologic Deficiency Syndromes Liver Cirrhosis Genetic Diseases, Inborn
HPO: Cirrhosis Gonadal dysgenesis Hepatic fibrosis Hypertension Immunodeficiency Portal hypertension Premature ovarian insufficiency


Primary Outcomes

Measure: To study the natural history of non cirrhotic portal hypertension.

Time: Ongoing

Time Perspective: Prospective

Cohort


There is one SNP

SNPs


1 C282Y

- Hemochromatosis as defined by presence of 3+ or 4+ stainable iron on liver biopsy or homozygosity for C282Y. --- C282Y ---



HPO Nodes


HPO:
Cirrhosis
Genes 119
HJV HFE MPV17 IL12A TMEM67 IL12RB1 TREX1 TCF4 KRT8 DCDC2 GLRX5 EOGT ATP6AP1 RPGRIP1L ATP7B GALT SPIB KRT18 USB1 PDGFRL RTEL1 DLL4 SFTPC CTC1 GPR35 MARS INPP5E AMACR FOS RRM2B POLG AGPAT2 AKR1D1 APC GBA PEX1 FARSB GBE1 CASP8 POU2AF1 IRF5 ATP8B1 CAV1 LBR APOE CCDC115 PPARG ACVRL1 WRAP53 SLC7A7 TYMP GDF2 NHP2 SKIV2L TERC TERT BCS1L F5 TFAM SLC40A1 IFT43 AXIN1 ABCB4 TFR2 JAK2 MST1 FAH MET PHKG2 HSD3B7 SERPINA1 LIPA AP1S1 NPHP3 IGF2R ABHD5 MMEL1 SFTPA2 PIGA ALMS1 TINF2 COG6 ARHGAP31 PIK3CA TTC37 DGUOK SLC25A13 JAG1 SCARB2 IL21R FECH RBPJ ASS1 ABCB11 DKC1 CC2D2A CYP7B1 PARN NOP10 CAVIN1 BSCL2 HAMP CTNNB1 UROD TRMT5 HBB DOCK6 ALDOB ENG TALDO1 SLC30A10 TNFSF15 TNPO3 COG4 NR1H4 NOTCH1 TP53 SMAD4 MPI
Gonadal dysgenesis
Genes 30
GATA4 WT1 PSMC3IP MPLKIP GTF2H5 SOX9 STK11 TWNK SRY GTF2E2 ERCC2 NR5A1 FGFR3 ERCC3 RXYLT1 SPIDR DMRT3 WWOX DHH HSD17B4 NUP107 KIT MRPS22 MAP3K1 ZFPM2 RNF113A BMP15 FSHR VAMP7 NR0B1
Hepatic fibrosis
Genes 103
HJV MKKS GPD1 NPHP1 IL12A RPGRIP1 TMEM67 IL12RB1 IFT27 TCF4 IFT140 DCDC2 ANKS6 EOGT RPGRIP1L OFD1 SPIB TRAF3IP1 WDR34 DLL4 DYNC2H1 GPR35 INPP5E IFT172 SDCCAG8 DZIP1L LZTFL1 CEP290 TMEM216 INSR DOLK SCYL1 GLIS3 BBIP1 FADD PEX1 BBS1 BBS2 WDR60 BBS4 POU2AF1 IRF5 BBS5 TMEM107 NHP2 NPHP4 BBS9 SLC40A1 WDPCP CEP164 MKS1 BBS10 ABCB4 CEP55 WDR19 ARL6 MST1 TTC8 MET B9D2 NEK1 LIPA AP1S1 NPHP3 MMEL1 PNPLA6 ARHGAP31 TRIM32 BBS7 AGL NEK8 ASL TTC37 DGUOK ALG9 IQCB1 RBPJ ABCD3 PKHD1 WDR35 PTRH2 B9D1 CC2D2A CYP7B1 NOP10 IFT122 IFT80 HAMP CTNNB1 C8ORF37 TMEM231 PLIN1 DOCK6 TALDO1 BBS12 CSPP1 TNFSF15 TNPO3 NOTCH1 INVS TCTN2 PMM2 MPI
Hypertension
Genes 282
MKKS TET2 LDLRAP1 HGD IL12B TMEM67 DNAJB11 POU6F2 MYH7 PDE3A MYH11 ERCC4 PRTN3 ERCC6 DIS3L2 ZMPSTE24 MYLK TRAF3IP1 HLA-B ACAT1 TMEM237 LEMD3 HLA-DPA1 HLA-DPB1 ENPP1 CYP11B1 IFT172 MAT2A CYP11B2 CYP17A1 HLA-DRB1 CYP21A2 MAX SDCCAG8 B2M KIF1B CD2AP TRPC6 ACTA2 MC4R GBA BBS1 BBS2 CDH23 BBS4 HMBS PTPN22 HPSE2 IRF5 ACTN4 GCH1 EXT2 TNFRSF11A KCTD1 ACVRL1 GPR101 MDH2 RREB1 WNK1 NPHP4 TRIP13 ADA2 BBS9 BANF1 NFU1 ALX4 STAT1 PHF21A MKS1 HIRA NOD2 SLC52A3 LRIG2 ARL6 JAK2 SLC2A10 TTC8 ERCC8 KLHL3 GJA1 BMPR2 FBN1 GANAB NF1 CLCN2 GLA GPC3 MGP ALMS1 BRCA2 SDHAF2 FIG4 ARHGAP31 NFIX KCNJ5 SCN2B TMEM70 UFD1 PKD1 PKD2 SCNN1A PKHD1 SCNN1B WDR35 FGA SCNN1G MYMK CC2D2A MAFB CACNA1H NR3C2 CCR6 FGFR2 GNAS HSD11B2 SLC52A2 NME1 FH PLIN1 ADAMTSL4 ABCG5 ABCG8 WNK4 NOTCH1 TBX1 NOTCH2 SDHA FOXF1 NOTCH3 SDHB SDHC SDHD PCSK9 PDE11A GP1BB COL1A1 FOXE3 MPL COL3A1 NPHP1 CUL3 VHL COL4A3 COL4A4 COL4A5 CACNA1D COL5A1 COL5A2 IFT27 KRT8 FMO3 RPGRIP1L FMR1 FN1 COMT OFD1 MLX SH2B3 KRT18 CLIP2 CALR SMARCAL1 LZTFL1 CEP290 WRN WT1 BBIP1 ITGA8 ELP1 FUZ BAZ1B POR ABCB6 APOA1 POU3F4 PAM16 APOB GATA5 AIP CAV1 BBS5 REST CPOX RET NR3C1 PPARG OSGEP RFC2 GTF2IRD1 ECE1 IDUA NSMCE2 SERPINA6 LARS2 TMEM127 EDA CBS LDLR JMJD1C ABCC6 WDPCP CEP164 TNFRSF11B BBS10 WDR19 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 MFAP5 USP8 MLXIPL ANGPTL6 LIMK1 VAC14 NPHP3 GTF2I THPO TRNC SEC24C LMNA COX1 COX2 COX3 EGFR ARVCF GUCY1A1 SUGCT CYTB LMX1B TRIM32 TRIM28 BBS7 PDE8B VANGL1 LOX ND1 ARMC5 IQCB1 XPNPEP3 ND4 ND5 DYRK1B ND6 PRKACA PRKAR1A NKX2-5 TRNE TRNF YY1AP1 CCN2 BSCL2 TRNH CTLA4 ELN TRNK TRNL1 PRKG1 C8ORF37 TRNQ TRNS1 TRNS2 TRNV TRNW HBB LYZ ENG MUC1 BBS12 G6PC SLC37A4 TBL2 EDA2R H19 COQ7 TP53 SMAD3 CEP19 SMAD4 INVS SMAD6
Immunodeficiency
Genes 196
CYBB MYC MYD88 IL12B IRF2BP2 IL12RB1 RNF168 ACD ATRX AICDA TNFSF12 RTEL1 ACP5 CFTR NCF1 ACTB GATA1 CPLX1 GATA2 BLNK CDH23 FGFRL1 IKZF1 NCF2 CHD1 IRF7 SLC46A1 MAGT1 RREB1 PTEN ADA BCR ADA2 LYST ZBTB24 MEIS2 STAT1 PGM3 HIRA TNFRSF4 TYK2 STIM1 STK4 JAK3 MALT1 STX1A ICOS ANTXR2 PTPRC MBTPS2 TINF2 FCGR3A COG6 PIK3CA CARD9 CCDC47 NFE2L2 PIK3CD PIK3R1 AGL NFKB1 BTK NFKB2 UFD1 IL21 BUB1B PKP1 DKC1 AK2 UNG AKT1 NOP10 BCL10 UROS AP3D1 RAB27A SEC23B TBX1 SDHB SDHC RAC2 SDHD TBCE GP1BB DNMT3B CUL4B DOCK2 FOXN1 RAG1 RAG2 FRAS1 TCF3 CLCA4 LAMTOR2 WAS COMT WIPF1 USB1 CTC1 WHCR NSD2 FOS POLE SMARCAL1 AGPAT2 IRF8 IKBKG XIAP CHD7 SIN3A LMNB2 CAV1 SIK3 LCK PPARG XRCC4 WRAP53 FCN3 NHP2 SKIV2L CR2 TERC SP110 TERT JMJD1C SHANK3 LETM1 CRKL RBCK1 EPG5 TFRC TGFB1 TTC7A IFNGR1 IFNGR2 UNC119 RMRP USP8 ORAI1 LIG4 CORO1A CD3D CD3E KLLN CD3G CD247 BCL11B SEC24C LAT CD19 MS4A1 ISG15 ARVCF DCLRE1C CDCA7 MTHFD1 CD28 IGHM IL21R CD40 CD40LG IRAK4 TNFRSF13C LRRC8A TNFRSF13B PRKCD CD79A CD79B CD81 CTBP1 CARD11 PARN CAVIN1 BSCL2 CTLA4 IGLL1 PRKDC ATM MAPK1 LRBA DCTN4 TNFRSF1B CTPS1 IKBKB NHEJ1 HBB SH2D1A CDC42 IL2RA SPATA5 IL2RG MMUT IL7R HELLS CYBA PRPS1
Portal hypertension
Genes 51
MPL JAK2 MST1 TET2 IL12A TMEM67 IL12RB1 MLXIPL TCF4 DCDC2 NPHP3 EOGT RPGRIP1L MMEL1 ALMS1 SPIB DLL4 ARHGAP31 CALR GPR35 INPP5E SHPK HLA-DRB1 DGUOK BTNL2 RBPJ PKHD1 GLIS3 TJP2 FARSB GBE1 CC2D2A POU2AF1 IRF5 ELN ACVRL1 GDF2 DOCK6 ENG SP110 ADA2 F5 SLC30A10 TNFSF15 TNPO3 NEUROG3 NOTCH1 CLDN1 STN1 SMAD4 PIGM
Premature ovarian insufficiency
Genes 52
WDR19 NPHP1 USP8 RASGRP1 NPHP3 B4GALNT1 FOXL2 FMR1 GALT LMNA AARS2 TRAF3IP1 MCM8 NUP107 ERAL1 RCBTB1 EIF2B1 POLG RIN2 SDCCAG8 MCM3AP IQCB1 CEP290 EIF2B4 EIF2B3 EIF2B2 FSHR EIF2B5 DIAPH2 DCAF17 PSMC3IP CDH23 CASP10 NBN PRKCD TWNK HFM1 NR5A1 FIGLA SPIDR FAS LARS2 FASLG NPHP4 STAG3 POF1B CEP164 MRPS22 BMP15 INVS NOBOX PMM2