PREECLAMPSIA/ECLAMPSIA 5

General Information (adopted from Orphanet):

Synonyms, Signs: PEE5
Number of Symptoms 3
OrphanetNr:
OMIM Id: 614595
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0100601) Eclampsia 6 / 7739
2
(HPO:0100602) Preeclampsia 9 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM 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 (605236.0001), was found in 1 woman; the other, a ser472-to- gly substitution ...