Ovarian hyperstimulation syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: OVARIAN HYPERSTIMULATION SYNDROME, FAMILIAL GESTATIONAL SPONTANEOUS
OHSS
Number of Symptoms 8
OrphanetNr: 64739
OMIM Id: 608115
ICD-10: N98.1
UMLs: C0085083
MeSH: D016471
MedDRA: 10033266
Snomed: 129635004

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: Rare genetic gynecological and obstetrical diseases
 -Rare genetic disease
Rare non-malformative uterine adnexal disease
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
(HPO:0000119) Abnormality of the genitourinary system 34 / 7739
2
(HPO:0002018) Nausea 44 / 7739
3
(HPO:0002027) Abdominal pain 184 / 7739
4
(HPO:0001541) Ascites 94 / 7739
5
(OMIM) Ovaries return to normal size after delivery 1 / 7739
6
(OMIM) Pathology shows multiple serous and hemorrhagic follicular cysts lined by luteinized cells ('hyperreactio luteinalis') 1 / 7739
7
(OMIM) Enlarged multilocular ovaries 1 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ovarian hyperstimulation syndrome most often occurs as an iatrogenic complication of ovarian stimulation treatments for in vitro fertilization; the incidence of severe forms ranges from 0.5 to 5% (Delvigne and Rozenberg, 2002). The clinical manifestations vary from abdominal ...
Molecular genetics OMIM In a 25-year-old woman of Moroccan origin who had 4 of 5 spontaneous pregnancies complicated by ovarian hyperstimulation syndrome, Vasseur et al. (2003) identified heterozygosity for a mutation in the FSHR gene (T449I; 136435.0008). Two of the patient's ...