Androgen resistance syndrome: genes and variants

Genes linked to Androgen resistance 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.

  85 disease-causing and 80 uncertain variants in AR are linked to Androgen resistance syndrome.

Where Androgen resistance syndrome variants cluster

• AR Interaction with LPXN (positions 552–919): 83 of 85 disease-causing changes, 2.4× more than its size predicts.

Known disease-causing variants in Androgen resistance syndrome

Showing 60 of 85.

Which prediction tools work for Androgen resistance syndrome

How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).

• CATVariant: 95 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• AlphaMissense: 93 out of 100
• MetaLR: 93 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• EVE: 86 out of 100
• PolyPhen-2: 83 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• SIFT: 76 out of 100

Same protein, different disease

• Differences in sex development is also caused by AR variants; they fall in the same places as the Androgen resistance syndrome variants (9 disease-causing).
• Male infertility is also caused by AR variants; they fall in the same places as the Androgen resistance syndrome variants (7 disease-causing).
• Partial androgen insensitivity syndrome is also caused by AR variants; they fall in the same places as the Androgen resistance syndrome variants (7 disease-causing).
• Ovarian cancer is also caused by AR variants; they fall mostly in different places as the Androgen resistance syndrome variants (4 disease-causing).
• Prostate cancer is also caused by AR variants; they fall mostly in different places as the Androgen resistance syndrome variants (3 disease-causing).

Diseases related to Androgen resistance syndrome

• 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
• Partial androgen insensitivity syndrome, 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 Androgen resistance syndrome?

In CATVariant, Androgen resistance syndrome is linked to 1 analyzed protein: AR (Androgen receptor).

How many genetic variants are linked to Androgen resistance syndrome?

183 variants: 85 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 80 are of uncertain significance or have conflicting reports.

Which uncertain variants in Androgen resistance syndrome look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

Which variant effect predictor works best for Androgen resistance syndrome?

Among tools not trained on clinical labels, AlphaMissense separates this disease's known disease-causing variants from harmless ones best (AUROC 0.93, based on 64 disease-causing and 25 harmless variants).

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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