Chronic infantile neurological, cutaneous and articular syndrome: genes and variants
Chronic infantile neurological, cutaneous and articular syndrome is linked to 1 analyzed protein (NLRP3). 5 DNA variants are known to cause it; 0 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 Chronic infantile neurological, cutaneous and articular syndrome
NLRP3: NACHT, LRR and PYD domains-containing protein 3
It assembles a widely used inflammasome in response to diverse danger signals, driving caspase-1 activation and release of IL-1beta and IL-18. Gain-of-function variants cause cryopyrin-associated periodic syndromes, while excessive activation contributes to common inflammatory diseases.
5 disease-causing and 0 uncertain variants in NLRP3 are linked to Chronic infantile neurological, cutaneous and articular syndrome.
Where Chronic infantile neurological, cutaneous and articular syndrome variants cluster
- NLRP3 NACHT (positions 220–536): 3 of 5 disease-causing changes, 2.0× more than its size predicts.
Known disease-causing variants in Chronic infantile neurological, cutaneous and articular syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| NLRP3 T350M | 350 | NACHT | Disease-causing (★★) |
| NLRP3 L355P | 355 | NACHT | Disease-causing (★★) |
| NLRP3 Y861C | 861 | LRR 5 | Disease-causing (★★) |
| NLRP3 F311S | 311 | NACHT | Disease-causing |
| NLRP3 F575S | 575 | Disease-causing |
Same protein, different disease
- Cryopyrin associated periodic syndrome is also caused by NLRP3 variants; they fall mostly in different places as the Chronic infantile neurological, cutaneous and articular syndrome variants (15 disease-causing).
- Autoinflammatory syndrome is also caused by NLRP3 variants; they fall mostly in different places as the Chronic infantile neurological, cutaneous and articular syndrome variants (7 disease-causing).
Diseases related to Chronic infantile neurological, cutaneous and articular syndrome
- Autosomal dominant nonsyndromic hearing loss, also linked to NLRP3
- Cryopyrin associated periodic syndrome, also linked to NLRP3
- Autoinflammatory syndrome, also linked to NLRP3
- Familial cold autoinflammatory syndrome 3, also linked to NLRP3
- Keratitis fugax hereditaria, also linked to NLRP3
Frequently asked questions
Which genes are linked to Chronic infantile neurological, cutaneous and articular syndrome?
In CATVariant, Chronic infantile neurological, cutaneous and articular syndrome is linked to 1 analyzed protein: NLRP3 (NACHT, LRR and PYD domains-containing protein 3).
How many genetic variants are linked to Chronic infantile neurological, cutaneous and articular syndrome?
5 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in Chronic infantile neurological, cutaneous and articular 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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