NLRP1 encodes NLR family pyrin domain containing 1 (1,473 aa). Acts as the sensor component of the NLRP1 inflammasome, which mediates inflammasome activation in response to various pathogen-associated signals, leading to subsequent pyroptosis. Highest expression in Pituitary (182.8 TPM) and Spleen (74.5 TPM).

Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome is associated with mutations in the NLRP1 gene on chromosome 17.

The NLRP1 protein participates in NLRP1 oligomerizes, NLRP1 senses MDP, and Bcl-2 and Bcl-XL bind NLRP1 pathways.

NLRP1 is classified as a druggable target (Protease category) with score 2.4.

Genetic testing for NLRP1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 8 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome.

3 publications have been identified in PubMed for corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome. Research spans Basic Science / Preclinical (67%) and Case Report / Case Series (33%).

Recent Publications

• Dobre A (2026). [PMID: 42123364](https://pubmed.ncbi.nlm.nih.gov/42123364/). *Int J Mol Sci*. [Basic Science / Preclinical]

• Rahmoun M (2024). [PMID: 39481538](https://pubmed.ncbi.nlm.nih.gov/39481538/). *Tumour virus research*. [Basic Science / Preclinical]

• Burlakov V (2024). [PMID: 38706460](https://pubmed.ncbi.nlm.nih.gov/38706460/). *The journal of allergy and clinical immunology. Global*. [Case Report / Case Series]