Ovarian hyperstimulation syndrome: genes and variants
Ovarian hyperstimulation syndrome is linked to 1 analyzed protein (FSHR). 1 DNA variants are known to cause it; 0 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Ovarian hyperstimulation syndrome
FSHR: Follicle-stimulating hormone receptor
FSH signaling through this pathway drives ovarian follicle maturation and supports Sertoli-cell function and spermatogenesis. Loss-of-function variants can cause ovarian resistance or infertility, whereas activating variants can produce inappropriate ovarian responsiveness.
1 disease-causing and 0 uncertain variants in FSHR are linked to Ovarian hyperstimulation syndrome.
Known disease-causing variants in Ovarian hyperstimulation syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FSHR A419P | 419 | Transmembrane | Disease-causing (★) |
Diseases related to Ovarian hyperstimulation syndrome
- Hypogonadotropic hypogonadism, also linked to FSHR
- Genetic non-acquired premature ovarian failure, also linked to FSHR
Frequently asked questions
Which genes are linked to Ovarian hyperstimulation syndrome?
In CATVariant, Ovarian hyperstimulation syndrome is linked to 1 analyzed protein: FSHR (Follicle-stimulating hormone receptor).
How many genetic variants are linked to Ovarian hyperstimulation syndrome?
21 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in Ovarian hyperstimulation syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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