PEE5
MCID: PRC045
MIFTS: 24

Preeclampsia/eclampsia 5 (PEE5)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Preeclampsia/eclampsia 5

MalaCards integrated aliases for Preeclampsia/eclampsia 5:

Name: Preeclampsia/eclampsia 5 57 29 13 6 70
Pee5 57 72
Gestational Proteinuric Hypertension 72
Preeclampsia/eclampsia, Type 5 39
Pre-Eclampsia/eclampsia 5 72

Characteristics:

HPO:

31
preeclampsia/eclampsia 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 614595
OMIM Phenotypic Series 57 PS189800
MedGen 41 C3281288
UMLS 70 C3281288

Summaries for Preeclampsia/eclampsia 5

UniProtKB/Swiss-Prot : 72 Pre-eclampsia/eclampsia 5: A hypertensive disorder of pregnancy characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. It impacts 2 individuals, the mother and her child, both of whom can be severely affected. Preeclampsia is one of the causes of maternal mortality and morbidity worldwide.

MalaCards based summary : Preeclampsia/eclampsia 5, also known as pee5, is related to pre-eclampsia and preeclampsia/eclampsia 4. An important gene associated with Preeclampsia/eclampsia 5 is CORIN (Corin, Serine Peptidase). Affiliated tissues include ovary, and related phenotypes are preeclampsia and eclampsia

More information from OMIM: 614595 PS189800

Related Diseases for Preeclampsia/eclampsia 5

Diseases in the Preeclampsia/eclampsia 1 family:

Preeclampsia/eclampsia 2 Preeclampsia/eclampsia 3
Preeclampsia/eclampsia 4 Preeclampsia/eclampsia 5

Diseases related to Preeclampsia/eclampsia 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pre-eclampsia 11.4
2 preeclampsia/eclampsia 4 11.3
3 preeclampsia/eclampsia 1 11.3
4 proteinuria, chronic benign 10.2
5 beckwith-wiedemann syndrome 10.1
6 hydatidiform mole, recurrent, 1 10.1
7 eclampsia 10.1
8 hyperinsulinism 10.1
9 gestational trophoblastic neoplasm 10.1

Graphical network of the top 20 diseases related to Preeclampsia/eclampsia 5:



Diseases related to Preeclampsia/eclampsia 5

Symptoms & Phenotypes for Preeclampsia/eclampsia 5

Human phenotypes related to Preeclampsia/eclampsia 5:

31
# Description HPO Frequency HPO Source Accession
1 preeclampsia 31 HP:0100602
2 eclampsia 31 HP:0100601

Clinical features from OMIM®:

614595 (Updated 05-Apr-2021)

Drugs & Therapeutics for Preeclampsia/eclampsia 5

Search Clinical Trials , NIH Clinical Center for Preeclampsia/eclampsia 5

Genetic Tests for Preeclampsia/eclampsia 5

Genetic tests related to Preeclampsia/eclampsia 5:

# Genetic test Affiliating Genes
1 Preeclampsia/eclampsia 5 29 CORIN

Anatomical Context for Preeclampsia/eclampsia 5

MalaCards organs/tissues related to Preeclampsia/eclampsia 5:

40
Ovary

Publications for Preeclampsia/eclampsia 5

Articles related to Preeclampsia/eclampsia 5:

(show all 35)
# Title Authors PMID Year
1
Role of corin in trophoblast invasion and uterine spiral artery remodelling in pregnancy. 57 6
22437503 2012
2
Corin mutations K317E and S472G from preeclamptic patients alter zymogen activation and cell surface targeting. [Corrected]. 6
24828501 2014
3
The influence of fluid management on outcomes in preeclampsia: a systematic review and meta-analysis. 61
29398426 2018
4
Dynamics of Base Excision Repair at the Maternal-Fetal Interface in Pregnancies Complicated by Preeclampsia. 61
27707956 2017
5
Frequency of preterm delivery in proteinuric verses non proteinuric pregnancy induced hypertension. 61
26564288 2015
6
Obstetric outcomes in women with polycystic ovary syndrome and isolated polycystic ovaries undergoing in vitro fertilization: a retrospective cohort analysis. 61
24803007 2015
7
Bevacizumab-mediated interference with VEGF signaling is sufficient to induce a preeclampsia-like syndrome in nonpregnant women. 61
22582121 2012
8
Serum urea and uric acid concentration in pregnant women in sub-urban commercial community in Africa. 61
19764679 2009
9
Reversion of the Ballantyne syndrome despite fetal hydrops persistence. 61
19047795 2008
10
Defective implantation and placentation: laying the blueprint for pregnancy complications. 61
20483405 2007
11
Defective implantation and placentation: laying the blueprint for pregnancy complications. 61
17007686 2006
12
Assessment of renal insufficiency in gestational proteinuric hypertension in third trimester pregnancy. 61
15053272 2003
13
Dynamic and steady state response of heart rate to orthostatic stress in normotensive and hypertensive pregnant women. 61
8735755 1996
14
Histochemical evaluation of placental angiotensinase A in pre-eclampsia: enzyme activity in villous trophoblast indicates an enhanced likelihood of gestational proteinuric hypertension. 61
8730885 1996
15
Beckwith-Wiedemann syndrome, placental abnormalities, and gestational proteinuric hypertension. 61
8159359 1994
16
Serial measurements of circulating tissue plasminogen activator and fibrin(ogen) degradation products predict outcome in gestational proteinuric hypertension. 61
8115915 1993
17
The variability of urinary protein and creatinine excretion in patients with gestational proteinuric hypertension. 61
8399029 1993
18
Fetal acidosis and Doppler velocimetry of the umbilical arteries in labor. 61
12797271 1993
19
The variability of urinary protein and creatinine excretion in patients with gestational proteinuric hypertension. 61
1450132 1992
20
Evidence against a pathogenetic role for endothelin in pre-eclampsia. 61
1384688 1992
21
Doppler ultrasound in pregnancies with hypertension. 61
1445132 1992
22
Racial variation in serum uric acid concentration in pregnancy: a comparison between European, New Zealand Maori and Polynesian women. 61
1586327 1992
23
Attenuation of the pressor response to tracheal intubation by magnesium sulphate with and without alfentanil in hypertensive proteinuric patients undergoing caesarean section. 61
1768544 1991
24
Respiratory function in severe gestational proteinuric hypertension: the effects of rapid volume expansion and subsequent vasodilatation with verapamil. 61
1721532 1991
25
Trophoblast deportation in pre-eclamptic pregnancy. 61
1751443 1991
26
Increased plasma levels of vasoactive intestinal polypeptide in pre-eclampsia. 61
1911589 1991
27
Attenuation of the pressor response to tracheal intubation in hypertensive proteinuric pregnant patients by lignocaine, alfentanil and magnesium sulphate. 61
1817624 1991
28
The effect of magnesium sulphate infusion on circulating catecholamine levels in severe gestational proteinuric hypertension. A report of 8 cases. 61
2251618 1990
29
Hemodynamic changes associated with intravenous infusion of the calcium antagonist verapamil in the treatment of severe gestational proteinuric hypertension. 61
1692982 1990
30
Haemodynamic changes in gestational proteinuric hypertension: the effects of rapid volume expansion and vasodilator therapy. 61
2590665 1989
31
Haemodynamic changes in gestational proteinuric hypertension: the effects of rapid volume expansion and vasodilator therapy. 61
2803986 1989
32
Verapamil in the treatment of severe postpartum hypertension. 61
3420465 1988
33
[Oral ketanserin in the treatment of pre-eclampsia]. 61
3399973 1988
34
HELLP syndrome. A case report. 61
3375948 1988
35
Management and outcome of pregnancy complicated by severe pre-eclampsia of early onset. 61
3686297 1987

Variations for Preeclampsia/eclampsia 5

ClinVar genetic disease variations for Preeclampsia/eclampsia 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CORIN NM_006587.4(CORIN):c.949A>G (p.Lys317Glu) SNV Pathogenic 30450 rs387906894 GRCh37: 4:47685820-47685820
GRCh38: 4:47683803-47683803
2 CORIN NM_006587.4(CORIN):c.1414A>G (p.Ser472Gly) SNV Pathogenic 30451 rs387906895 GRCh37: 4:47667224-47667224
GRCh38: 4:47665207-47665207
3 CORIN NM_006587.4(CORIN):c.1156G>T (p.Glu386Ter) SNV Pathogenic 1028527 GRCh37: 4:47680048-47680048
GRCh38: 4:47678031-47678031
4 CORIN NM_006587.4(CORIN):c.2068+64G>A SNV Pathogenic 1028528 GRCh37: 4:47645099-47645099
GRCh38: 4:47643082-47643082
5 CORIN NM_006587.4(CORIN):c.2967dup (p.Val990fs) Duplication Pathogenic 1032460 GRCh37: 4:47597899-47597900
GRCh38: 4:47595882-47595883
6 CORIN , LOC101927179 NM_006587.4(CORIN):c.8dup (p.Ser4fs) Duplication Uncertain significance 225326 rs199972616 GRCh37: 4:47839958-47839959
GRCh38: 4:47837941-47837942
7 CORIN NM_006587.4(CORIN):c.2047A>T (p.Ser683Cys) SNV Likely benign 811600 rs144722161 GRCh37: 4:47645184-47645184
GRCh38: 4:47643167-47643167

UniProtKB/Swiss-Prot genetic disease variations for Preeclampsia/eclampsia 5:

72
# Symbol AA change Variation ID SNP ID
1 CORIN p.Lys317Glu VAR_067795 rs387906894
2 CORIN p.Ser472Gly VAR_067797 rs387906895

Expression for Preeclampsia/eclampsia 5

Search GEO for disease gene expression data for Preeclampsia/eclampsia 5.

Pathways for Preeclampsia/eclampsia 5

GO Terms for Preeclampsia/eclampsia 5

Sources for Preeclampsia/eclampsia 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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