Partial androgen insensitivity syndrome: genes and variants
Partial androgen insensitivity syndrome is linked to 1 analyzed protein (AR). 7 DNA variants are known to cause it; 7 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 Partial androgen insensitivity syndrome
AR: Androgen receptor
Androgen binding redirects its transcriptional program to control male sexual differentiation, reproductive physiology, muscle and bone biology, and other androgen-responsive processes. Loss-of-function variants cause androgen insensitivity, CAG expansion causes spinal and bulbar muscular atrophy, and persistent signaling drives prostate cancer.
7 disease-causing and 7 uncertain variants in AR are linked to Partial androgen insensitivity syndrome.
Where Partial androgen insensitivity syndrome variants cluster
- AR NR LBD (positions 669–900): 7 of 7 disease-causing changes, 4.0× more than its size predicts.
Known disease-causing variants in Partial androgen insensitivity syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| AR N757S | 757 | NR LBD | Disease-causing (★★★★) |
| AR H777D | 777 | NR LBD | Disease-causing (★★) |
| AR V686L | 686 | NR LBD | Disease-causing (★) |
| AR E773K | 773 | NR LBD | Disease-causing (★) |
| AR A871G | 871 | NR LBD | Disease-causing (★) |
| AR Y764C | 764 | NR LBD | Disease-causing |
| AR V867L | 867 | NR LBD | Disease-causing |
Same protein, different disease
- Androgen resistance syndrome is also caused by AR variants; they fall mostly in different places as the Partial androgen insensitivity syndrome variants (85 disease-causing).
- Kennedy disease is also caused by AR variants; they fall mostly in different places as the Partial androgen insensitivity syndrome variants (46 disease-causing).
- Differences in sex development is also caused by AR variants; they fall mostly in different places as the Partial androgen insensitivity syndrome variants (9 disease-causing).
- Male infertility is also caused by AR variants; they fall mostly in different places as the Partial androgen insensitivity syndrome variants (7 disease-causing).
- Ovarian cancer is also caused by AR variants; they fall mostly in different places as the Partial androgen insensitivity syndrome variants (4 disease-causing).
Diseases related to Partial androgen insensitivity syndrome
- Androgen resistance syndrome, also linked to AR
- Kennedy disease, also linked to AR
- Ovarian cancer, also linked to AR
- Differences in sex development, also linked to AR
- Male infertility with azoospermia or oligozoospermia due to single gene mutation, also linked to AR
- Male infertility, also linked to AR
- Disorder of sexual differentiation, also linked to AR
- Prostate cancer, also linked to AR
- Hypospadias, also linked to AR
Frequently asked questions
Which genes are linked to Partial androgen insensitivity syndrome?
In CATVariant, Partial androgen insensitivity syndrome is linked to 1 analyzed protein: AR (Androgen receptor).
How many genetic variants are linked to Partial androgen insensitivity syndrome?
14 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 7 are of uncertain significance or have conflicting reports.
Which uncertain variants in Partial androgen insensitivity 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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