# Vasculite associada a anticorpos anti-neutrófilo citoplasmáticos (ANCA)

> Página oficial: https://raras.org/doenca/vasculite-associada-a-anticorpos-anti-neutrofilo-citoplasmaticos-anca
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 156152 — https://www.orpha.net/en/disease/detail/156152
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Grupo de vasculites sistêmicas com forte associação com Anca. Os distúrbios são caracterizados por inflamação necrosante de vasos de pequeno e médio calibre, com pouco ou nenhum depósito de imunocomplexos nas paredes dos vasos.

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000

## Sinais e sintomas (140 fenótipos HPO)

- **Glomerulonefrite** — HPO: HP:0000099
- **Retinopatia** — HPO: HP:0000488
- **Deficiência auditiva neurossensorial** — HPO: HP:0000407
- **Hidronefrose** — HPO: HP:0000126
- **Edema periorbital** — HPO: HP:0100539
- **Infecções respiratórias recorrentes** — HPO: HP:0002205
- **Angina pectoris** — HPO: HP:0001681
- **Meningite** — HPO: HP:0001287
- **Convulsão** — HPO: HP:0001250
- **Anormalidade inflamatória do olho** — HPO: HP:0100533
- **Esclerite** — HPO: HP:0100532
- **Morfologia anormal do nariz** — HPO: HP:0000366
- **Defeito ventilatório restritivo** — HPO: HP:0002091
- **Neuropatia sensorial** — HPO: HP:0000763
- **Concentração elevada de proteína C-reativa circulante** — HPO: HP:0011227
- **Isquemia cerebral** — HPO: HP:0002637
- **Morfologia anormal da cavidade oral** — HPO: HP:0000163
- **Cefaleia** — HPO: HP:0002315
- **Hemiplegia** — HPO: HP:0002301
- **Deficiência visual** — HPO: HP:0000505
- **Estenose ureteral** — HPO: HP:0000071
- **Prostatite** — HPO: HP:0000024
- **Otite média** — HPO: HP:0000388
- **Nódulo pulmonar** — HPO: HP:0033608
- **Diabetes insipidus** — HPO: HP:0000873
- **Proptose** — HPO: HP:0000520
- **Obstrução pulmonar crônica** — HPO: HP:0006510
- **Artrite poliarticular** — HPO: HP:0005764
- **Fibrose pulmonar** — HPO: HP:0002206
- **Anormalidade do eixo hipotálamo-hipófise** — HPO: HP:0000864
- **Obstrução do ducto nasolacrimal** — HPO: HP:0000579
- **Granuloma cutâneo** — HPO: HP:6000070
- **Endocardite** — HPO: HP:0100584
- **Infarto do miocárdio** — HPO: HP:0001658
- **Obstrução das vias aéreas** — HPO: HP:0006536
- **Eosinofilia** — HPO: HP:0001880
- **Pápula** — HPO: HP:0200034
- **Polipose nasal** — HPO: HP:0100582
- **Eosinofilia gastrointestinal** — HPO: HP:0032064
- **Proteinúria** — HPO: HP:0000093
- _...e mais 100 sintomas. Ver https://raras.org/doenca/vasculite-associada-a-anticorpos-anti-neutrofilo-citoplasmaticos-anca._

## Genes associados (5)

- **CTLA4** — Cytotoxic T-lymphocyte protein 4 [Candidate gene tested in]
  - Função: Inhibitory receptor acting as a major negative regulator of T-cell responses (PubMed:11279501, PubMed:11279502, PubMed:16551244, PubMed:1714933, PubMed:18641304, PubMed:28484017). Acts as a decoy rece
- **HLA-DPA1** — HLA class II histocompatibility antigen, DP alpha 1 chain [Candidate gene tested in]
  - Função: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cle
- **PRTN3** — Myeloblastin [Candidate gene tested in]
  - Função: Serine protease that degrades elastin, fibronectin, laminin, vitronectin, and collagen types I, III, and IV (in vitro) (PubMed:2033050, PubMed:28240246, PubMed:3198760). By cleaving and activating rec
- **PTPN22** — Tyrosine-protein phosphatase non-receptor type 22 [Candidate gene tested in]
  - Função: Acts as a negative regulator of T-cell receptor (TCR) signaling by direct dephosphorylation of the Src family kinases LCK and FYN, ITAMs of the TCRz/CD3 complex, as well as ZAP70, VAV, VCP and other k
- **HLA-DPB1** — HLA class II histocompatibility antigen, DP beta 1 chain [Candidate gene tested in]
  - Função: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cle

## Ensaios clínicos ativos (16)

- **NCT07160608** [RECRUITING]: Safety and Efficacy of Tarperprumig in Adult Participants With Anti-Neutrophil Cytoplasmic Antibody (ANCA)-Associated Vasculitis — https://clinicaltrials.gov/study/NCT07160608
- **NCT04871191** [RECRUITING]: Study of Salvage Therapy to Treat Patients With Granulomatosis With Polyangiitis — https://clinicaltrials.gov/study/NCT04871191
- **NCT06733935** [RECRUITING]: A Phase 1/2 Study of NKX019 in Subjects With Immune-Mediated Diseases (Ntrust-2) — https://clinicaltrials.gov/study/NCT06733935
- **NCT06308978** [RECRUITING]: A Phase 1 Study of FT819 in B-cell Mediated Autoimmune Disease — https://clinicaltrials.gov/study/NCT06308978
- **NCT06321601** [RECRUITING]: Study to Evaluate Avacopan in Combination With a Rituximab or Cyclophosphamide-containing Regimen, in Children From 6 Years to < 18 Years of Age With AAV. — https://clinicaltrials.gov/study/NCT06321601
- **NCT07236762** [RECRUITING]: An Exploratory Clinical Study of YTS109 Cell for R/R Autoimmune Diseases — https://clinicaltrials.gov/study/NCT07236762
- **NCT07104721** [RECRUITING]: A Clinical Study of YTS109 Cell for R/R Autoimmune Diseases — https://clinicaltrials.gov/study/NCT07104721
- **NCT07236801** [RECRUITING]: Exploratory Clinical Study on YTS109 Cell Therapy for Autoimmune Diseases — https://clinicaltrials.gov/study/NCT07236801
- **NCT07123519** [RECRUITING]: A Clinical Study of YTS109 Cells for the Treatment of R/R Autoimmune Diseases — https://clinicaltrials.gov/study/NCT07123519
- **NCT07246096** [RECRUITING]: Exploratory Clinical Study on the Safety and Efficacy of Anti- CD19/BCMA U CAR-T Cell Injection for the Treatment of Relapsed/Refractory Autoimmune Diseases — https://clinicaltrials.gov/study/NCT07246096

## Doenças relacionadas (por similaridade fenotípica)

- [Granulomatose com poliangeíte](https://raras.org/doenca/granulomatose-com-poliangeite) — ORPHA:900 — 126 sintomas em comum
- [Granulomatose eosinofílica com poliangeíte](https://raras.org/doenca/granulomatose-eosinofilica-com-poliangeite) — ORPHA:183 — 67 sintomas em comum
- [Poliangeíte microscópica](https://raras.org/doenca/poliangeite-microscopica) — ORPHA:727 — 55 sintomas em comum
- [Doença de Behçet](https://raras.org/doenca/doenca-de-behcet) — ORPHA:117 — 43 sintomas em comum
- [Vasculite mediada por complexos imunes](https://raras.org/doenca/vasculite-mediada-por-complexos-imunes) — ORPHA:156149 — 42 sintomas em comum
- [Miopatia e fasciite inflamatórias adquiridas](https://raras.org/doenca/miopatia-e-fasciite-inflamatorias-adquiridas) — ORPHA:98482 — 41 sintomas em comum
- [Polimiosite](https://raras.org/doenca/polimiosite) — ORPHA:732 — 36 sintomas em comum
- [Linfoma maligno não-Hodgkin](https://raras.org/doenca/linfoma-maligno-nao-hodgkin) — ORPHA:547 — 35 sintomas em comum
- [Lúpus eritematoso sistêmico](https://raras.org/doenca/lupus-eritematoso-sistemico) — ORPHA:536 — 35 sintomas em comum
- [Dermatose tóxica](https://raras.org/doenca/dermatose-toxica) — ORPHA:293815 — 34 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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**Citação sugerida**: Raras.org — Vasculite associada a anticorpos anti-neutrófilo citoplasmáticos (ANCA). Disponível em: https://raras.org/doenca/vasculite-associada-a-anticorpos-anti-neutrofilo-citoplasmaticos-anca
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