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ovarian hyperstimulation syndrome (OHSS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ovarian hyperstimulation syndrome

MONDO:0011972

Also known as:OHSSsecondary Meig's syndromeovarian hyperstimulation syndrome, familial gestational spontaneous

Overview

A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries.

GeneticsAutosomal dominant · FSHR (chr 2)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Ascites, Abnormality of the genitourinary system, Nausea, and Abdominal pain.

Organ System	Phenotype Count	Example Features
Digestive system	3	Ascites, Nausea, Abdominal pain
Kidneys and urinary system

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

FSHR encodes follicle stimulating hormone receptor (695 aa). G protein-coupled receptor for follitropin, the follicle-stimulating hormone. Through cAMP production activates the downstream PI3K-AKT and ERK1/ERK2 signaling pathways Highest expression in Testis (3.1 TPM) and Ovary (0.8 TPM).

Ovarian hyperstimulation syndrome is associated with mutations in the FSHR gene on chromosome 2.

FSHR is classified as a druggable target (Druggable Genome and G Protein Coupled Receptor categories) with score 26.1.

Diagnosis

Genetic testing for FSHR is available. Testing is considered confirmatory for diagnosis.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for ovarian hyperstimulation syndrome.

229 publications have been identified in PubMed for ovarian hyperstimulation syndrome. Kisho has analyzed 28 by research type. Research spans Review / Meta-Analysis (68%), Clinical Trial Publication (7%), and Epidemiology / Natural History (7%).

Research Type	Count	% of Total
Research summaries	19	68%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 5:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608115

Orphanet

European rare disease database

Orphanet:64739

GARD

Genetic and Rare Diseases Info Center

GARD:16668

Questions for Your Care Team

→Should I pursue genetic testing for FSHR, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

ovarian hyperstimulation syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

ovarian hyperstimulation syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications