Familial amyloid nephropathy with urticaria AND deafness: genes and variants
Familial amyloid nephropathy with urticaria AND deafness is linked to 1 analyzed protein (NLRP3). 4 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 Familial amyloid nephropathy with urticaria AND deafness
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.
4 disease-causing and 0 uncertain variants in NLRP3 are linked to Familial amyloid nephropathy with urticaria AND deafness.
Known disease-causing variants in Familial amyloid nephropathy with urticaria AND deafness
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| NLRP3 L355P | 355 | NACHT | Disease-causing (★★) |
| NLRP3 Y861C | 861 | LRR 5 | Disease-causing (★★) |
| NLRP3 G571R | 571 | Disease-causing (★) | |
| NLRP3 M664T | 664 | Disease-causing (★) |
Same protein, different disease
- Cryopyrin associated periodic syndrome is also caused by NLRP3 variants; they fall mostly in different places as the Familial amyloid nephropathy with urticaria AND deafness variants (15 disease-causing).
- Autoinflammatory syndrome is also caused by NLRP3 variants; they fall mostly in different places as the Familial amyloid nephropathy with urticaria AND deafness 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 Familial amyloid nephropathy with urticaria AND deafness variants (5 disease-causing).
Diseases related to Familial amyloid nephropathy with urticaria AND deafness
- 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
- Keratitis fugax hereditaria, also linked to NLRP3
Frequently asked questions
Which genes are linked to Familial amyloid nephropathy with urticaria AND deafness?
In CATVariant, Familial amyloid nephropathy with urticaria AND deafness is linked to 1 analyzed protein: NLRP3 (NACHT, LRR and PYD domains-containing protein 3).
How many genetic variants are linked to Familial amyloid nephropathy with urticaria AND deafness?
4 variants: 4 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 Familial amyloid nephropathy with urticaria AND deafness 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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