Aromatase deficiency: genes and variants
Aromatase deficiency is linked to 1 analyzed protein (CYP19A1). 9 DNA variants are known to cause it; 25 more are uncertain, and 1 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Aromatase deficiency
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.
9 disease-causing and 25 uncertain variants in CYP19A1 are linked to Aromatase deficiency.
Known disease-causing variants in Aromatase deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CYP19A1 R435C | 435 | Disease-causing (★★) | |
| CYP19A1 R365Q | 365 | Disease-causing (★★) | |
| CYP19A1 R375C | 375 | Disease-causing (★★) | |
| CYP19A1 E210K | 210 | Disease-causing (★★) | |
| CYP19A1 R435H | 435 | Disease-causing (★) | |
| CYP19A1 R192H | 192 | Disease-causing (★) | |
| CYP19A1 R192C | 192 | Disease-causing (★) | |
| CYP19A1 C437Y | 437 | Disease-causing (★) | |
| CYP19A1 R375H | 375 | Disease-causing (★) |
Uncertain variants in Aromatase deficiency that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| CYP19A1 R365W | 365 | Conflicting reports (★) | +7: in a 3D region that tolerates change poorly (1R); R365Q at the same position is pathogenic; seen in 6.6e-06 of gnomAD DNA copies; REVEL 0.962 |
Diseases related to Aromatase deficiency
- Differences in sex development, also linked to CYP19A1
- Aromatase excess syndrome, also linked to CYP19A1
Frequently asked questions
Which genes are linked to Aromatase deficiency?
In CATVariant, Aromatase deficiency is linked to 1 analyzed protein: CYP19A1 (Aromatase).
How many genetic variants are linked to Aromatase deficiency?
44 variants: 9 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 25 are of uncertain significance or have conflicting reports.
Which uncertain variants in Aromatase deficiency look disease-causing?
1 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example CYP19A1 R365W. These are leads for expert review, not diagnoses.
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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