# Doença de Behçet

> Página oficial: https://raras.org/doenca/doenca-de-behcet
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 117 — https://www.orpha.net/en/disease/detail/117
- **CID-10**: M35.2
- **OMIM**: OMIM:109650 — https://omim.org/entry/109650

## Descrição clínica

Vasculite crônica, recidivante e multissistêmica caracterizada por lesões mucocutâneas, bem como manifestações articulares, vasculares, oculares e do sistema nervoso central.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 100 000
- **Padrão de herança**: Multigenic/multifactorial

## Sinais e sintomas (95 fenótipos HPO)

- **Aumento da resposta inflamatória** — HPO: HP:0012649 (Frequente (79-30%))
- **Herança autossômica recessiva** — HPO: HP:0000007
- **Uveíte** — HPO: HP:0000554
- **Nível de D-manose diminuído na urina** — HPO: HP:0410060
- **Iridociclite** — HPO: HP:0001094
- **Fenômeno de Raynaud** — HPO: HP:0030880
- **Corioretinite** — HPO: HP:0012424
- **Hipópio** — HPO: HP:0031615
- **Eritema** — HPO: HP:0010783
- **Alopecia em placas** — HPO: HP:0002232
- **Irite** — HPO: HP:0001101
- **Náusea e vômito** — HPO: HP:0002017 (Muito frequente (99-80%))
- **Encefalite infecciosa** — HPO: HP:0002383 (Ocasional (29-5%))
- **Sinal piramidal anormal** — HPO: HP:0007256 (Ocasional (29-5%))
- **Estomatite aftosa recorrente** — HPO: HP:0011107 (Muito frequente (99-80%))
- **Infiltrados pulmonares** — HPO: HP:0002113 (Ocasional (29-5%))
- **Comprometimento da memória** — HPO: HP:0002354 (Ocasional (29-5%))
- **Neurite óptica** — HPO: HP:0100653 (Ocasional (29-5%))
- **Pleurite** — HPO: HP:0002102 (Ocasional (29-5%))
- **Hiperreflexia** — HPO: HP:0001347 (Ocasional (29-5%))
- **Endocardite** — HPO: HP:0100584 (Ocasional (29-5%))
- **Convulsão** — HPO: HP:0001250 (Ocasional (29-5%))
- **Catarata** — HPO: HP:0000518 (Ocasional (29-5%))
- **Uveíte não granulomatosa** — HPO: HP:0007813 (Frequente (79-30%))
- **Distúrbio da marcha** — HPO: HP:0001288 (Frequente (79-30%))
- **Linfadenopatia** — HPO: HP:0002716 (Ocasional (29-5%))
- **Vertigem** — HPO: HP:0002321 (Ocasional (29-5%))
- **Úlceras genitais** — HPO: HP:0003249 (Frequente (79-30%))
- **Bolhas anormais na pele** — HPO: HP:0008066 (Frequente (79-30%))
- **Dor abdominal** — HPO: HP:0002027 (Frequente (79-30%))
- **Febre recorrente** — HPO: HP:0001954 (Ocasional (29-5%))
- **Trombose arterial** — HPO: HP:0004420 (Ocasional (29-5%))
- **Pústula** — HPO: HP:0200039 (Frequente (79-30%))
- **Ataxia** — HPO: HP:0001251 (Ocasional (29-5%))
- **Febre** — HPO: HP:0001945 (Muito frequente (99-80%))
- **Necrose avascular** — HPO: HP:0010885 (Ocasional (29-5%))
- **Irritabilidade** — HPO: HP:0000737 (Ocasional (29-5%))
- **Hemorragia gastrointestinal** — HPO: HP:0002239 (Frequente (79-30%))
- **Artrite** — HPO: HP:0001369 (Muito frequente (99-80%))
- **Glomerulonefrite** — HPO: HP:0000099 (Raro (<5%))
- _...e mais 55 sintomas. Ver https://raras.org/doenca/doenca-de-behcet._

## Genes associados (15)

- **HLA-B** — HLA class I histocompatibility antigen, B alpha chain [Major susceptibility factor in]
  - Função: Antigen-presenting major histocompatibility complex class I (MHCI) molecule. In complex with B2M/beta 2 microglobulin displays primarily viral and tumor-derived peptides on antigen-presenting cells fo
- **MEFV** — Pyrin [Major susceptibility factor in]
  - Função: Involved in the regulation of innate immunity and the inflammatory response in response to IFNG/IFN-gamma (PubMed:10807793, PubMed:11468188, PubMed:16037825, PubMed:16785446, PubMed:17431422, PubMed:1
- **TLR4** — Toll-like receptor 4 [Major susceptibility factor in]
  - Função: Transmembrane receptor that functions as a pattern recognition receptor recognizing pathogen- and damage-associated molecular patterns (PAMPs and DAMPs) to induce innate immune responses via downstrea
- **STAT4** — Signal transducer and activator of transcription 4 [Major susceptibility factor in]
  - Função: Transcriptional regulator mainly expressed in hematopoietic cells that plays a critical role in cellular growth, differentiation and immune response (PubMed:10961885, PubMed:37256972, PubMed:8943379).
- **FAS** — Tumor necrosis factor receptor superfamily member 6 [Major susceptibility factor in]
  - Função: Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase CASP8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs CASP8 proteolytic activation which
- **IL12A** — Interleukin-12 subunit alpha [Major susceptibility factor in]
  - Função: Heterodimerizes with IL12B to form the IL-12 cytokine or with EBI3/IL27B to form the IL-35 cytokine (PubMed:8605935, PubMed:8943050). IL-12 is primarily produced by professional antigen-presenting cel
- **UBAC2** — Ubiquitin-associated domain-containing protein 2 [Major susceptibility factor in]
  - Função: Restricts trafficking of FAF2 from the endoplasmic reticulum to lipid droplets (PubMed:23297223). In association with LMBR1L and E3 ubiquitin-protein ligase AMFR, negatively regulates the canonical Wn
- **KLRC4** — NKG2-F type II integral membrane protein [Major susceptibility factor in]
  - Função: May play a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells
- **C4A** — Complement C4-A [Major susceptibility factor in]
  - Função: Precursor of non-enzymatic components of the classical, lectin and GZMK complement pathways, which consist in a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling
- **CCR1** — C-C chemokine receptor type 1 [Major susceptibility factor in]
  - Função: Chemokine receptor that plays a crucial role in regulating immune cell migration, inflammation, and immune responses (PubMed:14991608). Contributes to the inflammatory response by recruiting immune ce
- **IL12A-AS1** [Major susceptibility factor in]
- **IL23R** — Interleukin-23 receptor [Major susceptibility factor in]
  - Função: Associates with IL12RB1 to form the interleukin-23 receptor. Binds IL23 and mediates T-cells, NK cells and possibly certain macrophage/myeloid cells stimulation probably through activation of the Jak-
- **IL10** — Interleukin-10 [Major susceptibility factor in]
  - Função: Major immune regulatory cytokine that acts on many cells of the immune system where it has profound anti-inflammatory functions, limiting excessive tissue disruption caused by inflammation. Mechanisti
- **IFNGR1** — Interferon gamma receptor 1 [Major susceptibility factor in]
  - Função: Receptor subunit for interferon gamma/INFG that plays crucial roles in antimicrobial, antiviral, and antitumor responses by activating effector immune cells and enhancing antigen presentation (PubMed:
- **ERAP1** — Endoplasmic reticulum aminopeptidase 1 [Major susceptibility factor in]
  - Função: Aminopeptidase that plays a central role in peptide trimming, a step required for the generation of most HLA class I-binding peptides. Peptide trimming is essential to customize longer precursor pepti

## Ensaios clínicos ativos (5)

- **NCT07375940** [RECRUITING]: Clinical, Biochemical and Epigenetic Profile of Pediatric Behçet Disease — https://clinicaltrials.gov/study/NCT07375940
- **NCT04528082** [RECRUITING]: Apremilast Pediatric Study in Children With Active Oral Ulcers Associated With Behçet's Disease — https://clinicaltrials.gov/study/NCT04528082
- **NCT06451575** [RECRUITING]: Thrombophilia and Thrombosis in Behçet's Disease — https://clinicaltrials.gov/study/NCT06451575
- **NCT04334031** [RECRUITING]: Deployment o the Multidisciplinary Prospective Cohort Imminent — https://clinicaltrials.gov/study/NCT04334031
- **NCT05879419** [ACTIVE_NOT_RECRUITING]: Recombinant Herpes Zoster Vaccine in Patients With Autoimmune Rheumatic Diseases — https://clinicaltrials.gov/study/NCT05879419
- **NCT02648581** [COMPLETED]: Efficacy and Safety of Ustekinumab, a Human Monoclonal Anti-IL-12/IL-23 Antibody, in Patients With Behçet Disease — https://clinicaltrials.gov/study/NCT02648581
- **NCT06386744** [COMPLETED]: Dusquetide for the Treatment of Behcet's Disease — https://clinicaltrials.gov/study/NCT06386744
- **NCT04959435** [COMPLETED]: Understanding the Role of Oral Microbiota in Behçet's Disease (BEHCETBIOT) — https://clinicaltrials.gov/study/NCT04959435
- **NCT06266247** [UNKNOWN]: How Sirtuin Levels Change During Behçet Disease — https://clinicaltrials.gov/study/NCT06266247
- **NCT03888846** [COMPLETED]: Topical Pentoxifylline Gel on Behcet's Disease Oral Ulcers — https://clinicaltrials.gov/study/NCT03888846

## Doenças relacionadas (por similaridade fenotípica)

- [Vasculite associada a anticorpos anti-neutrófilo citoplasmáticos (ANCA)](https://raras.org/doenca/vasculite-associada-a-anticorpos-anti-neutrofilo-citoplasmaticos-anca) — ORPHA:156152 — 43 sintomas em comum
- [Granulomatose com poliangeíte](https://raras.org/doenca/granulomatose-com-poliangeite) — ORPHA:900 — 40 sintomas em comum
- [Vasculite mediada por complexos imunes](https://raras.org/doenca/vasculite-mediada-por-complexos-imunes) — ORPHA:156149 — 32 sintomas em comum
- [Dermatose tóxica](https://raras.org/doenca/dermatose-toxica) — ORPHA:293815 — 28 sintomas em comum
- [Doença auto-inflamatória NLRP3-associada](https://raras.org/doenca/doenca-auto-inflamatoria-nlrp3-associada) — ORPHA:208650 — 27 sintomas em comum
- [Febre mediterrânica familiar](https://raras.org/doenca/febre-mediterranica-familiar) — ORPHA:342 — 27 sintomas em comum
- [Lúpus eritematoso sistêmico](https://raras.org/doenca/lupus-eritematoso-sistemico) — ORPHA:536 — 26 sintomas em comum
- [Síndrome TRAPS](https://raras.org/doenca/sindrome-traps) — ORPHA:32960 — 26 sintomas em comum
- [Miopatia e fasciite inflamatórias adquiridas](https://raras.org/doenca/miopatia-e-fasciite-inflamatorias-adquiridas) — ORPHA:98482 — 26 sintomas em comum
- [Granulomatose eosinofílica com poliangeíte](https://raras.org/doenca/granulomatose-eosinofilica-com-poliangeite) — ORPHA:183 — 26 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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