Pyogenic arthritis-pyoderma gangrenosum-acne syndrome: genes and variants
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is linked to 1 analyzed protein (PSTPIP1). 3 DNA variants are known to cause it; 235 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 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
PSTPIP1: Proline-serine-threonine phosphatase-interacting protein 1
It organizes cytoskeletal and inflammasome-associated protein interactions in myeloid cells and can influence pyrin-dependent inflammatory signaling. Gain-of-function variants cause PAPA syndrome and related PSTPIP1-associated autoinflammatory diseases with sterile arthritis and inflammatory skin lesions.
3 disease-causing and 235 uncertain variants in PSTPIP1 are linked to Pyogenic arthritis-pyoderma gangrenosum-acne syndrome.
Known disease-causing variants in Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PSTPIP1 E250K | 250 | F-BAR | Disease-causing (★★) |
| PSTPIP1 A230T | 230 | F-BAR | Disease-causing (★★) |
| PSTPIP1 E250Q | 250 | F-BAR | Disease-causing (★) |
Diseases related to Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- Autoinflammatory syndrome, also linked to PSTPIP1
Frequently asked questions
Which genes are linked to Pyogenic arthritis-pyoderma gangrenosum-acne syndrome?
In CATVariant, Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is linked to 1 analyzed protein: PSTPIP1 (Proline-serine-threonine phosphatase-interacting protein 1).
How many genetic variants are linked to Pyogenic arthritis-pyoderma gangrenosum-acne syndrome?
257 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 235 are of uncertain significance or have conflicting reports.
Which uncertain variants in Pyogenic arthritis-pyoderma gangrenosum-acne 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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