Familial isolated pituitary adenoma: genes and variants
Familial isolated pituitary adenoma is linked to 1 analyzed protein (AIP). 2 DNA variants are known to cause it; 9 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 Familial isolated pituitary adenoma
AIP: AH receptor-interacting protein
It acts as a co-chaperone and tumor suppressor in pituitary cells, interacting with signaling and protein-folding machinery. Germline loss-of-function variants predispose to familial isolated pituitary adenomas, particularly growth-hormone-secreting tumors that often present at a young age.
2 disease-causing and 6 uncertain variants in AIP are linked to Familial isolated pituitary adenoma.
Weakly linked (only a few uncertain records): ALK.
Known disease-causing variants in Familial isolated pituitary adenoma
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| AIP R271W | 271 | TPR 3 | Disease-causing (★★) |
| AIP M1I | 1 | Disease-causing (★) |
Frequently asked questions
Which genes are linked to Familial isolated pituitary adenoma?
In CATVariant, Familial isolated pituitary adenoma is linked to 1 analyzed protein: AIP (AH receptor-interacting protein).
How many genetic variants are linked to Familial isolated pituitary adenoma?
32 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 9 are of uncertain significance or have conflicting reports.
Which uncertain variants in Familial isolated pituitary adenoma 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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