Behcet disease: genes and variants
Behcet disease is linked to 2 analyzed proteins (MEFV and TNFRSF1A). 2 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 Behcet disease
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.
1 disease-causing and 0 uncertain variants in MEFV are linked to Behcet disease.
TNFRSF1A: Tumor necrosis factor receptor superfamily member 1A
It mediates many inflammatory and cell-death responses to TNF through NF-kappaB, MAPK, and death-domain signaling. Dominant pathogenic variants that alter receptor handling cause TNF receptor-associated periodic syndrome, an inherited autoinflammatory disease.
1 disease-causing and 0 uncertain variants in TNFRSF1A are linked to Behcet disease.
Weakly linked (only a few uncertain records): PSTPIP1 and NOD2.
Known disease-causing variants in Behcet disease
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TNFRSF1A H155Y | 155 | TNFR-Cys 3 | Disease-causing |
| MEFV G111E | 111 | Disease-causing |
Same protein, different disease
- Familial Mediterranean fever is also caused by MEFV variants; they fall mostly in different places as the Behcet disease variants (6 disease-causing).
- Acute febrile neutrophilic dermatosis is also caused by MEFV variants; they fall mostly in different places as the Behcet disease variants (4 disease-causing).
- TNF receptor-associated periodic fever syndrome (TRAPS) is also caused by TNFRSF1A variants; they fall mostly in different places as the Behcet disease variants (21 disease-causing).
Diseases related to Behcet disease
- Autoinflammatory syndrome, also linked to MEFV and TNFRSF1A
- TNF receptor-associated periodic fever syndrome (TRAPS), also linked to TNFRSF1A
- Familial Mediterranean fever, also linked to MEFV
- Acute febrile neutrophilic dermatosis, also linked to MEFV
Frequently asked questions
Which genes are linked to Behcet disease?
In CATVariant, Behcet disease is linked to 2 analyzed proteins: MEFV (Pyrin) and TNFRSF1A (Tumor necrosis factor receptor superfamily member 1A).
How many genetic variants are linked to Behcet disease?
10 variants: 2 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 Behcet disease 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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