Keratitis fugax hereditaria: genes and variants
Keratitis fugax hereditaria is linked to 1 analyzed protein (NLRP3). 1 DNA variants are known to cause it; 2 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 Keratitis fugax hereditaria
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.
1 disease-causing and 2 uncertain variants in NLRP3 are linked to Keratitis fugax hereditaria.
Known disease-causing variants in Keratitis fugax hereditaria
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| NLRP3 D21H | 21 | Pyrin | Disease-causing (★) |
Same protein, different disease
- Cryopyrin associated periodic syndrome is also caused by NLRP3 variants; they fall mostly in different places as the Keratitis fugax hereditaria variants (15 disease-causing).
- Autoinflammatory syndrome is also caused by NLRP3 variants; they fall mostly in different places as the Keratitis fugax hereditaria variants (7 disease-causing).
- Chronic infantile neurological, cutaneous and articular syndrome is also caused by NLRP3 variants; they fall mostly in different places as the Keratitis fugax hereditaria variants (5 disease-causing).
- Familial amyloid nephropathy with urticaria AND deafness is also caused by NLRP3 variants; they fall mostly in different places as the Keratitis fugax hereditaria variants (4 disease-causing).
Diseases related to Keratitis fugax hereditaria
- Autosomal dominant nonsyndromic hearing loss, also linked to NLRP3
- Cryopyrin associated periodic syndrome, also linked to NLRP3
- Autoinflammatory syndrome, also linked to NLRP3
- Chronic infantile neurological, cutaneous and articular syndrome, also linked to NLRP3
- Familial cold autoinflammatory syndrome 3, also linked to NLRP3
Frequently asked questions
Which genes are linked to Keratitis fugax hereditaria?
In CATVariant, Keratitis fugax hereditaria is linked to 1 analyzed protein: NLRP3 (NACHT, LRR and PYD domains-containing protein 3).
How many genetic variants are linked to Keratitis fugax hereditaria?
8 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 2 are of uncertain significance or have conflicting reports.
Which uncertain variants in Keratitis fugax hereditaria 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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