Persistent Mullerian duct syndrome: genes and variants
Persistent Mullerian duct syndrome is linked to 1 analyzed protein (AMH). 4 DNA variants are known to cause it; 4 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Persistent Müllerian duct syndrome
Genes linked to Persistent Mullerian duct syndrome
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.
4 disease-causing and 4 uncertain variants in AMH are linked to Persistent Mullerian duct syndrome.
Known disease-causing variants in Persistent Mullerian duct syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| AMH G101R | 101 | Disease-causing (★★) | |
| AMH P151S | 151 | Disease-causing (★★) | |
| AMH V477A | 477 | Binding to AMH prodomain | Disease-causing (★) |
| AMH C188Y | 188 | Disease-causing |
Diseases related to Persistent Mullerian duct syndrome
- Differences in sex development, also linked to AMH
- Genetic non-acquired premature ovarian failure, also linked to AMH
Frequently asked questions
Which genes are linked to Persistent Mullerian duct syndrome?
In CATVariant, Persistent Mullerian duct syndrome is linked to 1 analyzed protein: AMH (Anti-Muellerian hormone).
How many genetic variants are linked to Persistent Mullerian duct syndrome?
25 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 4 are of uncertain significance or have conflicting reports.
Which uncertain variants in Persistent Mullerian duct 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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