Respiratory papillomatosis, juvenile recurrent, congenital: genes and variants
Respiratory papillomatosis, juvenile recurrent, congenital is linked to 1 analyzed protein (NLRP1). 1 DNA variants are known to cause it; 4 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 Respiratory papillomatosis, juvenile recurrent, congenital
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 4 uncertain variants in NLRP1 are linked to Respiratory papillomatosis, juvenile recurrent, congenital.
Known disease-causing variants in Respiratory papillomatosis, juvenile recurrent, congenital
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| NLRP1 T755N | 755 | Disease-causing |
Diseases related to Respiratory papillomatosis, juvenile recurrent, congenital
- Autoinflammation with arthritis and dyskeratosis, also linked to NLRP1
- Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, also linked to NLRP1
Frequently asked questions
Which genes are linked to Respiratory papillomatosis, juvenile recurrent, congenital?
In CATVariant, Respiratory papillomatosis, juvenile recurrent, congenital is linked to 1 analyzed protein: NLRP1 (NACHT, LRR and PYD domains-containing protein 1).
How many genetic variants are linked to Respiratory papillomatosis, juvenile recurrent, congenital?
12 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 4 are of uncertain significance or have conflicting reports.
Which uncertain variants in Respiratory papillomatosis, juvenile recurrent, congenital 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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