Preeclampsia/eclampsia 5

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

NOS3, STOX1, CORIN, FLT1, AGT, ACE, SERPINE1, EPHX1, EDN1, INHBA, CP, SCNN1A, HMOX1, ARHGAP45, DDAH2, ANXA5, ENG, LEP, PGF, LEPR, ICAM1, TLR3, CCL5, PTGS1, PDE5A, CYP2J2, C3, AKR1C3, COMT, IDO1

NOS3, STOX1, CORIN, FLT1, AGT, ACE, SERPINE1, EPHX1, EDN1, INHBA, CP, SCNN1A, HMOX1, ARHGAP45, DDAH2, ANXA5, ENG, LEP, PGF, LEPR, ICAM1, TLR3, CCL5, PTGS1, PDE5A, CYP2J2, C3, AKR1C3, COMT, IDO1, CD40LG, NOTCH2, ASB4, ITGA4, F5, CYP11B2, CFI, EED, HBA1, HBA2, PPARG, LBR, SOS1, CD46, GNAS, HELLPAR, CFH, NSD1, FGF14, SLC25A20, ADGRG6, CYP11B1, DHPS, ZMPSTE24, MYCBP2, ZNF295-AS1, TMEM94, KMT2B, AGTR1, ADM, VEGFA, IGFBP1, INHA, MTHFR, IL16, MMP9, MBL2, THBD, ERVW-1, SELP, ADIPOQ, TLR4, TNF, IL10, CSF1, PLAC1, GCM1, SYNPO, KIR3DL3, S100B, TAP1, TAC3, SOCS3, APLN, TDO2, SLC1A5, EBAG9, SELL, FLT1P1, SELE, CD24, TAP2, NOD2, TEK, PROZ, TFPI, ADAMTS13, TGFB1, ADAM12, VWF, VCAM1, LGALS13, NOX1, TIMP2, TPBG, TLR2, SERBP1, NAT2, REN, CGB3, SERPIND1, GSTP1, GH2, FABP4, F2, ESR1, EFNA1, CRP, CRH, CPB2, CLU, CHRNA7, TNFRSF8, PYGM, CALR, CALCA, BOK, BDKRB2, ANGPT2, APLNR, AGTR2, ADRB3, ADRB2, ADORA2B, ADA, ACVR2A, HDC, HIF1A, HLA-G, HP, PTX3, PSG5, HTRA1, PRCP, PON1, PEE1, ENPP1, OLR1, NPHS1, CCN3, NOS2, ACTG2, LGALS1, CXCL10, IL18, IL15, IL6ST, IL6, IL4, CCN1, IGF2, IGF1, IFNGR2, IFNG, HSD11B2, LIPC

Drugs

Digoxin immune FAB (Ovine) ( DIGIBIND ), Recombinant human alpha-1-microglobulin, S-nitrosoglutathione

Digoxin immune FAB (Ovine) ( DIGIBIND ), Recombinant human alpha-1-microglobulin, S-nitrosoglutathione, recombinant human placental growth factor

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A number sign (#) is used with this entry because of evidence that susceptibility to preeclampsia-5 (PEE5) is associated with heterozygous mutation in the CORIN gene (605236) on chromosome 4p12.

For a phenotypic description and a discussion of genetic heterogeneity of preeclampsia/eclampsia, see PEE1 (189800).

Molecular Genetics

Cui et al. (2012) identified 2 missense mutations in the CORIN gene in women with preeclampsia. One, a lys317-to-glu substitution in low density lipoprotein receptor repeat-2 region (605236.0001), was found in 1 woman; the other, a ser472-to-gly substitution in the frizzled-2 domain (605236.0002), was found in 2 women from the same family. Neither mutation affected CORIN expression in HEK293 cells, but both markedly reduced CORIN activity in processing pro-atrial natriuretic peptide (ANP; 108780).

Animal Model

Cui et al. (2012) generated knockout/transgenic mice in which Corin expression was limited to the heart and was sufficient to maintain normal blood pressure in nonpregnant mice. In pregnant Corin knockout mice, blood pressure increased at approximately 17 days postcoitus and rose further before returning to nonpregnant blood pressure levels after delivery. In the Corin knockout/transgenic mice, which were normotensive, blood pressure increased similarly during pregnancy, indicating that cardiac CORIN expression did not prevent pregnancy-induced hypertension. CORIN knockout and knockout/transgenic mice all developed proteinuria and renal pathology in late pregnancy. Pregnant CORIN knockout females that had been mated with either wildtype or knockout males had similarly increased blood pressure, indicating that lack of maternal, but not fetal, CORIN caused hypertension in pregnancy.