Genetic non-acquired premature ovarian failure: genes and variants
Genetic non-acquired premature ovarian failure is linked to 2 analyzed proteins (FSHR and AMH). 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 Genetic non-acquired premature ovarian failure
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.
0 disease-causing and 0 uncertain variants in FSHR are linked to Genetic non-acquired premature ovarian failure.
AMH: Anti-Muellerian hormone
During male fetal development, it drives regression of the Mullerian ducts and therefore prevents formation of female internal reproductive structures. Loss of AMH signaling can cause persistent Mullerian duct syndrome in otherwise virilized 46,XY individuals.
1 disease-causing and 0 uncertain variants in AMH are linked to Genetic non-acquired premature ovarian failure.
Known disease-causing variants in Genetic non-acquired premature ovarian failure
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| AMH R465C | 465 | Disease-causing |
Same protein, different disease
- Persistent Mullerian duct syndrome is also caused by AMH variants; they fall mostly in different places as the Genetic non-acquired premature ovarian failure variants (4 disease-causing).
Diseases related to Genetic non-acquired premature ovarian failure
- Differences in sex development, also linked to AMH
- Persistent Mullerian duct syndrome, also linked to AMH
- Hypogonadotropic hypogonadism, also linked to FSHR
- Ovarian hyperstimulation syndrome, also linked to FSHR
Frequently asked questions
Which genes are linked to Genetic non-acquired premature ovarian failure?
In CATVariant, Genetic non-acquired premature ovarian failure is linked to 2 analyzed proteins: FSHR (Follicle-stimulating hormone receptor) and AMH (Anti-Muellerian hormone).
How many genetic variants are linked to Genetic non-acquired premature ovarian failure?
7 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 Genetic non-acquired premature ovarian failure 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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