PIK3R1-related immunodeficiency and SHORT syndrome: genes and variants
PIK3R1-related immunodeficiency and SHORT syndrome is linked to 1 analyzed protein (PIK3R1). 2 DNA variants are known to cause it; 12 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 PIK3R1-related immunodeficiency and SHORT syndrome
PIK3R1: Phosphatidylinositol 3-kinase regulatory subunit alpha
Its p85-family products stabilize and regulate class IA PI3K catalytic subunits and couple receptors to PI3K activation. Pathogenic variants can cause activated PI3K-delta syndrome type 2 or SHORT syndrome depending on how they alter pathway output.
2 disease-causing and 12 uncertain variants in PIK3R1 are linked to PIK3R1-related immunodeficiency and SHORT syndrome.
Known disease-causing variants in PIK3R1-related immunodeficiency and SHORT syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PIK3R1 R631Q | 631 | SH2 2 | Disease-causing (★★★) |
| PIK3R1 R649W | 649 | SH2 2 | Disease-causing (★★★) |
Diseases related to PIK3R1-related immunodeficiency and SHORT syndrome
- Vascular malformation, also linked to PIK3R1
- Agammaglobulinemia, also linked to PIK3R1
- CLOVES syndrome, also linked to PIK3R1
Frequently asked questions
Which genes are linked to PIK3R1-related immunodeficiency and SHORT syndrome?
In CATVariant, PIK3R1-related immunodeficiency and SHORT syndrome is linked to 1 analyzed protein: PIK3R1 (Phosphatidylinositol 3-kinase regulatory subunit alpha).
How many genetic variants are linked to PIK3R1-related immunodeficiency and SHORT syndrome?
16 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 12 are of uncertain significance or have conflicting reports.
Which uncertain variants in PIK3R1-related immunodeficiency and SHORT 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.
Download every variant as CSV · Browse all diseases · Methods · About the Center