MCID: PRC045
MIFTS: 19

Preeclampsia/eclampsia 5

Categories: Genetic diseases

Aliases & Classifications for Preeclampsia/eclampsia 5

MalaCards integrated aliases for Preeclampsia/eclampsia 5:

Name: Preeclampsia/eclampsia 5 57 29 13 6 73
Pee5 57 75
Gestational Proteinuric Hypertension 75
Preeclampsia/eclampsia, Type 5 40
Pre-Eclampsia/eclampsia 5 75

Characteristics:

HPO:

32
preeclampsia/eclampsia 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614595
MedGen 42 C3281288
UMLS 73 C3281288

Summaries for Preeclampsia/eclampsia 5

UniProtKB/Swiss-Prot : 75 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 preeclampsia/eclampsia 4 and pre-eclampsia. An important gene associated with Preeclampsia/eclampsia 5 is CORIN (Corin, Serine Peptidase). Related phenotypes are eclampsia and preeclampsia

Description from OMIM: 614595

Related Diseases for Preeclampsia/eclampsia 5

Diseases in the Preeclampsia/eclampsia 5 family:

Preeclampsia/eclampsia 1 Preeclampsia/eclampsia 2
Preeclampsia/eclampsia 3 Preeclampsia/eclampsia 4

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

# Related Disease Score Top Affiliating Genes
1 preeclampsia/eclampsia 4 11.6
2 pre-eclampsia 11.6
3 preeclampsia/eclampsia 1 11.2
4 beckwith-wiedemann syndrome 9.9
5 eclampsia 9.9

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



Diseases related to Preeclampsia/eclampsia 5

Symptoms & Phenotypes for Preeclampsia/eclampsia 5

Clinical features from OMIM:

614595

Human phenotypes related to Preeclampsia/eclampsia 5:

32
# Description HPO Frequency HPO Source Accession
1 eclampsia 32 HP:0100601
2 preeclampsia 32 HP:0100602

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

Publications for Preeclampsia/eclampsia 5

Articles related to Preeclampsia/eclampsia 5:

# Title Authors Year
1
Histochemical evaluation of placental angiotensinase A in pre-eclampsia: enzyme activity in villous trophoblast indicates an enhanced likelihood of gestational proteinuric hypertension. ( 8730885 )
1996
2
Beckwith-Wiedemann syndrome, placental abnormalities, and gestational proteinuric hypertension. ( 8159359 )
1994

Variations for Preeclampsia/eclampsia 5

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

75
# Symbol AA change Variation ID SNP ID
1 CORIN p.Lys317Glu VAR_067795 rs387906894
2 CORIN p.Ser472Gly VAR_067797 rs387906895

ClinVar genetic disease variations for Preeclampsia/eclampsia 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CORIN NM_006587.3(CORIN): c.949A> G (p.Lys317Glu) single nucleotide variant Pathogenic rs387906894 GRCh37 Chromosome 4, 47685820: 47685820
2 CORIN NM_006587.3(CORIN): c.949A> G (p.Lys317Glu) single nucleotide variant Pathogenic rs387906894 GRCh38 Chromosome 4, 47683803: 47683803
3 CORIN NM_006587.3(CORIN): c.1414A> G (p.Ser472Gly) single nucleotide variant Pathogenic rs387906895 GRCh37 Chromosome 4, 47667224: 47667224
4 CORIN NM_006587.3(CORIN): c.1414A> G (p.Ser472Gly) single nucleotide variant Pathogenic rs387906895 GRCh38 Chromosome 4, 47665207: 47665207
5 CORIN NM_001278585.1(CORIN): c.8dupA (p.Ser4Valfs) duplication Uncertain significance rs199972616 GRCh37 Chromosome 4, 47839959: 47839959
6 CORIN NM_001278585.1(CORIN): c.8dupA (p.Ser4Valfs) duplication Uncertain significance rs199972616 GRCh38 Chromosome 4, 47837942: 47837942

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....