PEE4
MCID: PRC034
MIFTS: 21

Preeclampsia/eclampsia 4 (PEE4)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Preeclampsia/eclampsia 4

MalaCards integrated aliases for Preeclampsia/eclampsia 4:

Name: Preeclampsia/eclampsia 4 57 29 13 6
Pee4 57 72
Gestational Proteinuric Hypertension 72
Preeclampsia/eclampsia, Type 4 39
Pre-Eclampsia/eclampsia 4 72
Preeclampsia Eclampsia 4 70

Characteristics:

HPO:

31
preeclampsia/eclampsia 4:
Inheritance polygenic inheritance


Classifications:



External Ids:

OMIM® 57 609404
OMIM Phenotypic Series 57 PS189800
MedGen 41 C1836255
SNOMED-CT via HPO 68 15394000 15938005 398254007
UMLS 70 C1836255

Summaries for Preeclampsia/eclampsia 4

UniProtKB/Swiss-Prot : 72 Pre-eclampsia/eclampsia 4: 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 4, also known as pee4, is related to preeclampsia/eclampsia 5 and pre-eclampsia. An important gene associated with Preeclampsia/eclampsia 4 is STOX1 (Storkhead Box 1). Related phenotypes are preeclampsia and eclampsia

More information from OMIM: 609404 PS189800

Related Diseases for Preeclampsia/eclampsia 4

Diseases in the Preeclampsia/eclampsia 1 family:

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

Diseases related to Preeclampsia/eclampsia 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 preeclampsia/eclampsia 5 11.4
2 pre-eclampsia 11.4
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 4:



Diseases related to Preeclampsia/eclampsia 4

Symptoms & Phenotypes for Preeclampsia/eclampsia 4

Human phenotypes related to Preeclampsia/eclampsia 4:

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

Clinical features from OMIM®:

609404 (Updated 05-Apr-2021)

Drugs & Therapeutics for Preeclampsia/eclampsia 4

Search Clinical Trials , NIH Clinical Center for Preeclampsia/eclampsia 4

Genetic Tests for Preeclampsia/eclampsia 4

Genetic tests related to Preeclampsia/eclampsia 4:

# Genetic test Affiliating Genes
1 Preeclampsia/eclampsia 4 29 STOX1

Anatomical Context for Preeclampsia/eclampsia 4

Publications for Preeclampsia/eclampsia 4

Articles related to Preeclampsia/eclampsia 4:

# Title Authors PMID Year
1
Maternal segregation of the Dutch preeclampsia locus at 10q22 with a new member of the winged helix gene family. 6 57
15806103 2005
2
Evaluation of STOX1 as a preeclampsia candidate gene in a population-wide sample. 57
17290274 2007
3
STOX1 is not imprinted and is not likely to be involved in preeclampsia. 6
17325670 2007
4
The parent-of-origin effect of 10q22 in pre-eclamptic females coincides with two regions clustered for genes with down-regulated expression in androgenetic placentas. 57
15208369 2004
5
A genome-wide scan for preeclampsia in the Netherlands. 57
11781687 2001
6
Risk factors and fetal outcomes for preeclampsia in a Colombian cohort. 61
33015399 2020

Variations for Preeclampsia/eclampsia 4

ClinVar genetic disease variations for Preeclampsia/eclampsia 4:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STOX1 NM_152709.5(STOX1):c.1149del (p.Lys383fs) Deletion Pathogenic 998391 GRCh37: 10:70644697-70644697
GRCh38: 10:68884941-68884941
2 STOX1 NM_152709.5(STOX1):c.1474C>T (p.Arg492Ter) SNV Pathogenic 1031209 GRCh37: 10:70645026-70645026
GRCh38: 10:68885270-68885270
3 STOX1 NM_152709.5(STOX1):c.457T>C (p.Tyr153His) SNV risk factor 1719 rs1341667 GRCh37: 10:70641860-70641860
GRCh38: 10:68882104-68882104
4 STOX1 NM_152709.5(STOX1):c.1824A>C (p.Glu608Asp) SNV Conflicting interpretations of pathogenicity 1720 rs10509305 GRCh37: 10:70645376-70645376
GRCh38: 10:68885620-68885620

UniProtKB/Swiss-Prot genetic disease variations for Preeclampsia/eclampsia 4:

72
# Symbol AA change Variation ID SNP ID
1 STOX1 p.Arg18Pro VAR_023784 rs556362193
2 STOX1 p.Asn825Ile VAR_023787 rs41278532

Expression for Preeclampsia/eclampsia 4

Search GEO for disease gene expression data for Preeclampsia/eclampsia 4.

Pathways for Preeclampsia/eclampsia 4

GO Terms for Preeclampsia/eclampsia 4

Sources for Preeclampsia/eclampsia 4

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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