Acute febrile neutrophilic dermatosis: genes and variants
Acute febrile neutrophilic dermatosis is linked to 1 analyzed protein (MEFV). 4 DNA variants are known to cause it; 199 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 Acute febrile neutrophilic dermatosis
MEFV: Pyrin
Its pyrin inflammasome senses disruptions of cytoskeletal regulation and can activate IL-1beta-dependent inflammation. Pathogenic variants cause familial Mediterranean fever, with recurrent attacks of fever and serosal or joint inflammation.
4 disease-causing and 199 uncertain variants in MEFV are linked to Acute febrile neutrophilic dermatosis.
Known disease-causing variants in Acute febrile neutrophilic dermatosis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MEFV S242R | 242 | Disease-causing (★★) | |
| MEFV V726A | 726 | B30.2/SPRY | Disease-causing (★★) |
| MEFV R761H | 761 | B30.2/SPRY | Disease-causing (★★) |
| MEFV E244K | 244 | Disease-causing |
Same protein, different disease
- Familial Mediterranean fever is also caused by MEFV variants; they fall mostly in different places as the Acute febrile neutrophilic dermatosis variants (6 disease-causing).
Diseases related to Acute febrile neutrophilic dermatosis
- Autoinflammatory syndrome, also linked to MEFV
- Familial Mediterranean fever, also linked to MEFV
- Behcet disease, also linked to MEFV
Frequently asked questions
Which genes are linked to Acute febrile neutrophilic dermatosis?
In CATVariant, Acute febrile neutrophilic dermatosis is linked to 1 analyzed protein: MEFV (Pyrin).
How many genetic variants are linked to Acute febrile neutrophilic dermatosis?
204 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 199 are of uncertain significance or have conflicting reports.
Which uncertain variants in Acute febrile neutrophilic dermatosis 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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