Aromatase excess syndrome: genes and variants
Aromatase excess syndrome is linked to 1 analyzed protein (CYP19A1). 1 DNA variants are known to cause it; 3 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 Aromatase excess syndrome
CYP19A1: Aromatase
It converts androgens to estrogens and is therefore essential for estrogen biosynthesis in gonads, adipose tissue, placenta, and other sites. Loss-of-function variants cause aromatase deficiency, whereas excessive activity can contribute to estrogen excess; aromatase inhibition is central to treatment of many breast cancers.
1 disease-causing and 3 uncertain variants in CYP19A1 are linked to Aromatase excess syndrome.
Known disease-causing variants in Aromatase excess syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CYP19A1 E210K | 210 | Disease-causing (★★) |
Same protein, different disease
- Aromatase deficiency is also caused by CYP19A1 variants; they fall mostly in different places as the Aromatase excess syndrome variants (9 disease-causing).
Diseases related to Aromatase excess syndrome
- Differences in sex development, also linked to CYP19A1
- Aromatase deficiency, also linked to CYP19A1
Frequently asked questions
Which genes are linked to Aromatase excess syndrome?
In CATVariant, Aromatase excess syndrome is linked to 1 analyzed protein: CYP19A1 (Aromatase).
How many genetic variants are linked to Aromatase excess syndrome?
7 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 3 are of uncertain significance or have conflicting reports.
Which uncertain variants in Aromatase excess 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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