Autoinflammation with arthritis and dyskeratosis: genes and variants
Autoinflammation with arthritis and dyskeratosis is linked to 1 analyzed protein (NLRP1). 1 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 Autoinflammation with arthritis and dyskeratosis
NLRP1: NACHT, LRR and PYD domains-containing protein 1
It can assemble an inflammasome that activates caspase-1 and inflammatory cytokines in response to cellular danger, with prominent functions in skin and epithelial immunity. Gain-of-function variants cause autoinflammatory skin syndromes and can increase susceptibility to inflammatory disease.
1 disease-causing and 12 uncertain variants in NLRP1 are linked to Autoinflammation with arthritis and dyskeratosis.
Known disease-causing variants in Autoinflammation with arthritis and dyskeratosis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| NLRP1 P1214R | 1214 | FIIND | Disease-causing (★★) |
Diseases related to Autoinflammation with arthritis and dyskeratosis
- Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, also linked to NLRP1
- Respiratory papillomatosis, juvenile recurrent, congenital, also linked to NLRP1
Frequently asked questions
Which genes are linked to Autoinflammation with arthritis and dyskeratosis?
In CATVariant, Autoinflammation with arthritis and dyskeratosis is linked to 1 analyzed protein: NLRP1 (NACHT, LRR and PYD domains-containing protein 1).
How many genetic variants are linked to Autoinflammation with arthritis and dyskeratosis?
18 variants: 1 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 Autoinflammation with arthritis and dyskeratosis 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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