# Granulomatose com poliangeíte

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

## Identificadores

- **ORPHA**: 900 — https://www.orpha.net/en/disease/detail/900
- **CID-10**: M31.3
- **OMIM**: OMIM:608710 — https://omim.org/entry/608710

## Descrição clínica

A granulomatose de Wegener é uma vasculite necrotizante dos pequenos vasos caracterizada pela associação de inflamação da parede vascular e perivascular e granulomatose extravascular.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 100 000
- **Padrão de herança**: Not applicable

## Sinais e sintomas (129 fenótipos HPO)

- **Retinopatia** — HPO: HP:0000488 (Ocasional (29-5%))
- **Anomalia do desenvolvimento do tálamo** — HPO: HP:0010982
- **Início pediátrico** — HPO: HP:0410280
- **HP:0003596** — HPO: HP:0003596
- **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
- **Polipose nasal** — HPO: HP:0100582
- **Eosinofilia gastrointestinal** — HPO: HP:0032064
- **Pneumonia eosinofílica** — HPO: HP:0032071
- **Morfologia anormal da pleura** — HPO: HP:0002103
- **Hemiplegia/hemiparesia** — HPO: HP:0004374
- **Cardiomiopatia hipertrófica** — HPO: HP:0001639
- **Urticária** — HPO: HP:0001025
- **Miosite** — HPO: HP:0100614
- **Miocardite** — HPO: HP:0012819
- **Disfagia** — HPO: HP:0002015
- **Nefrite túbulo-intersticial** — HPO: HP:0001970
- **Morfologia anormal do pericárdio** — HPO: HP:0001697
- **Glomerulonefrite crescente** — HPO: HP:0008653
- **Insuficiência cardíaca congestiva** — HPO: HP:0001635
- **Nódulo subcutâneo** — HPO: HP:0001482
- **Acrocianose** — HPO: HP:0001063
- **Cutis marmorata** — HPO: HP:0000965
- **Degeneração do sistema nervoso central** — HPO: HP:0007009
- **Ataque isquêmico transitório** — HPO: HP:0002326
- **Má absorção** — HPO: HP:0002024
- **Refluxo gastroesofágico** — HPO: HP:0002020
- **Aumento do nível circulante de IgE** — HPO: HP:0003212
- **Fator reumatoide positivo** — HPO: HP:0002923
- **Distúrbio da marcha** — HPO: HP:0001288
- **Manchas cutâneas hipopigmentadas** — HPO: HP:0001053
- **Asma** — HPO: HP:0002099
- **Hemorragia retiniana** — HPO: HP:0000573
- **Uveíte** — HPO: HP:0000554
- **Proporção elevada de neutrófilos no líquido de lavado broncoalveolar** — HPO: HP:0032977
- **Hemorragia pulmonar localizada** — HPO: HP:0032990
- **Úlcera oral** — HPO: HP:0000155
- _...e mais 89 sintomas. Ver https://raras.org/doenca/granulomatose-com-poliangeite._

## Genes associados (5)

- **CTLA4** — Cytotoxic T-lymphocyte protein 4 [Major susceptibility factor 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
- **PTPN22** — Tyrosine-protein phosphatase non-receptor type 22 [Major susceptibility factor 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-DPA1** — HLA class II histocompatibility antigen, DP alpha 1 chain [Major susceptibility factor 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 [Major susceptibility factor 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
- **HLA-DPB1** — HLA class II histocompatibility antigen, DP beta 1 chain [Major susceptibility factor 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 (23)

- **NCT06512883** [RECRUITING]: A Trial to Investigate Benralizumab in Children With Eosinophilic Diseases — https://clinicaltrials.gov/study/NCT06512883
- **NCT07087912** [RECRUITING]: Safety and Immunogenicity of the Live Attenuated Tetravalent Butantan-Dengue Vaccine in Autoimmune Rheumatic Diseases — https://clinicaltrials.gov/study/NCT07087912
- **NCT04871191** [RECRUITING]: Study of Salvage Therapy to Treat Patients With Granulomatosis With Polyangiitis — https://clinicaltrials.gov/study/NCT04871191
- **NCT06046222** [RECRUITING]: Trial of Efficacy and Safety of NS-229 Versus Placebo in Patients With Eosinophilic Granulomatosis With Polyangiitis — https://clinicaltrials.gov/study/NCT06046222
- **NCT06940661** [RECRUITING]: Obinutuzumab for Remission Induction in Patients With Relapsing PR3-ANCA Granulomatosis With Polyangiitis — https://clinicaltrials.gov/study/NCT06940661
- **NCT06983821** [RECRUITING]: Safe Effective Therapy With Low-Dose Glucocorticoid in ANCA-Associated Vasculitis (SAFE-LOW) — https://clinicaltrials.gov/study/NCT06983821
- **NCT00315380** [RECRUITING]: Longitudinal Study for Eosinophilic Granulomatosis With Polyangiitis — https://clinicaltrials.gov/study/NCT00315380
- **NCT02593565** [RECRUITING]: Vasculitis Pregnancy Registry — https://clinicaltrials.gov/study/NCT02593565
- **NCT02967068** [RECRUITING]: VCRC Tissue Repository — https://clinicaltrials.gov/study/NCT02967068
- **NCT01241305** [RECRUITING]: One-Time DNA Study for Vasculitis — https://clinicaltrials.gov/study/NCT01241305

## 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 — 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 — 41 sintomas em comum
- [Doença de Behçet](https://raras.org/doenca/doenca-de-behcet) — ORPHA:117 — 40 sintomas em comum
- [Vasculite mediada por complexos imunes](https://raras.org/doenca/vasculite-mediada-por-complexos-imunes) — ORPHA:156149 — 39 sintomas em comum
- [Miopatia e fasciite inflamatórias adquiridas](https://raras.org/doenca/miopatia-e-fasciite-inflamatorias-adquiridas) — ORPHA:98482 — 39 sintomas em comum
- [Polimiosite](https://raras.org/doenca/polimiosite) — ORPHA:732 — 35 sintomas em comum
- [Lúpus eritematoso sistêmico](https://raras.org/doenca/lupus-eritematoso-sistemico) — ORPHA:536 — 32 sintomas em comum
- [Dermatose tóxica](https://raras.org/doenca/dermatose-toxica) — ORPHA:293815 — 31 sintomas em comum
- [Doença auto-inflamatória NLRP3-associada](https://raras.org/doenca/doenca-auto-inflamatoria-nlrp3-associada) — ORPHA:208650 — 31 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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