# Encefalite

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

## Identificadores

- **ORPHA**: 97275 — https://www.orpha.net/en/disease/detail/97275
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Processo inflamatório agudo que afeta o parênquima cerebral. As causas incluem infecções virais e, menos frequentemente, infecções bacterianas, toxinas e processos imunomediados.

## Epidemiologia e herança


## Sinais e sintomas (335 fenótipos HPO)

- **Fraqueza da musculatura facial** — HPO: HP:0030319
- **Teratoma testicular** — HPO: HP:0100616
- **Coreia** — HPO: HP:0002072
- **Rigidez** — HPO: HP:0002063
- **Hipotensão ortostática** — HPO: HP:0001278
- **Maneirismos repetitivos anormais** — HPO: HP:0000733
- **Agitação** — HPO: HP:0000713
- **Positividade para anticorpo anti-receptor NMDA** — HPO: HP:0032264
- **Parestesia** — HPO: HP:0003401
- **Neoplasia hematológica** — HPO: HP:0004377
- **Morfologia anormal do astrócito** — HPO: HP:0100707
- **Morfologia anormal da oligodendroglia** — HPO: HP:0100706
- **Proporção anormal de células T CD4** — HPO: HP:0031392
- **Neoplasia da mama** — HPO: HP:0100013
- **Linfoma de Hodgkin** — HPO: HP:0012189
- **Insônia** — HPO: HP:0100785
- **Anormalidade do sistema nervoso** — HPO: HP:0000707
- **Neuroblastoma** — HPO: HP:0003006
- **Crise oculogírica** — HPO: HP:0010553
- **Ausência de interação social** — HPO: HP:0008763
- **Positividade para anticorpo anti-receptor NMDA no LCR** — HPO: HP:0032266
- **Hemianopsia homônima** — HPO: HP:0030516
- **Defeito do campo visual** — HPO: HP:0001123
- **Neoplasia do pulmão** — HPO: HP:0100526
- **Neoplasia do timo** — HPO: HP:0100521
- **Amplificação do comportamento sexual** — HPO: HP:5200321
- **Regulação sudomotora anormal** — HPO: HP:0012333
- **Taquicardia ortostática** — HPO: HP:0012173
- **Discinesia orofacial** — HPO: HP:0002310
- **Mutismo** — HPO: HP:0002300
- **Mania** — HPO: HP:0100754
- **Teratoma ovariano** — HPO: HP:0012226
- **EEG com ondas lentas agudas temporais** — HPO: HP:0011289
- **Déficit de atenção** — HPO: HP:0000736
- **Dismetria** — HPO: HP:0001310
- **Autonegligência** — HPO: HP:0025479
- **Paralisia do nervo oculomotor** — HPO: HP:0012246
- **Proporção diminuída de células T CD8-positivas** — HPO: HP:0005415
- **Hemiplegia/hemiparesia** — HPO: HP:0004374
- **Ataxia da marcha** — HPO: HP:0002066
- _...e mais 295 sintomas. Ver https://raras.org/doenca/encefalite._

## Genes associados (7)

- **CPT2** — Carnitine O-palmitoyltransferase 2, mitochondrial [Candidate gene tested in]
  - Função: Involved in the intramitochondrial synthesis of acylcarnitines from accumulated acyl-CoA metabolites (PubMed:20538056, PubMed:24780397). Reconverts acylcarnitines back into the respective acyl-CoA est
- **RANBP2** — E3 SUMO-protein ligase RanBP2 [Candidate gene tested in]
  - Função: E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I (PubMed:11792325, PubMed:12032081, PubMed:15378033, PubMed:15931224, PubMed:22194619). Involved in transport factor (Ran-G
- **TBK1** — Serine/threonine-protein kinase TBK1 [Candidate gene tested in]
  - Função: Serine/threonine kinase that plays an essential role in regulating inflammatory responses to foreign agents (PubMed:10581243, PubMed:11839743, PubMed:12692549, PubMed:12702806, PubMed:14703513, PubMed
- **TLR3** — Toll-like receptor 3 [Candidate gene tested in]
  - Função: Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. TLR3 is a
- **TICAM1** — TIR domain-containing adapter molecule 1 [Candidate gene tested in]
  - Função: Involved in innate immunity against invading pathogens. Adapter used by TLR3, TLR4 (through TICAM2) and TLR5 to mediate NF-kappa-B and interferon-regulatory factor (IRF) activation, and to induce apop
- **TRAF3** — TNF receptor-associated factor 3 [Candidate gene tested in]
  - Função: Cytoplasmic E3 ubiquitin ligase that regulates various signaling pathways, such as the NF-kappa-B, mitogen-activated protein kinase (MAPK) and interferon regulatory factor (IRF) pathways, and thus con
- **UNC93B1** — Protein unc-93 homolog B1 [Candidate gene tested in]
  - Função: Plays an important role in innate and adaptive immunity by regulating nucleotide-sensing Toll-like receptor (TLR) signaling. Required for the transport of a subset of TLRs (including TLR3, TLR7 and TL

## Medicamentos em desenvolvimento (9)

- SATRALIZUMAB — Fase Phase 3 (IL6Ralpha/GP130 antagonist)
- METHYLPREDNISOLONE SODIUM SUCCINATE — Fase Phase 3 (Glucocorticoid receptor agonist)
- METHYLPREDNISOLONE HEMISUCCINATE — Fase Phase 3 (Glucocorticoid receptor agonist)
- PEMBROLIZUMAB — Fase Phase 2 (Programmed cell death protein 1 inhibitor)
- RITUXIMAB — Fase Phase 2 (B-lymphocyte antigen CD20 binding agent)
- RIBAVIRIN — Fase Phase 2 (Inosine-5'-monophosphate dehydrogenase 1 inhibitor)
- INEBILIZUMAB — Fase Phase 2 (B-lymphocyte antigen CD19 binding agent)
- OCRELIZUMAB — Fase Phase 2 (B-lymphocyte antigen CD20 binding agent)
- ALDESLEUKIN — Fase Phase 1 (Interleukin-2 receptor agonist)
- Fonte: https://platform.opentargets.org/disease/MONDO_0019956

## Ensaios clínicos ativos (27)

- **NCT07526493** [RECRUITING]: Safety and Pharmacodynamics of QH103 Cell Injection in the Treatment of Patients With Relapsed/Refractory Antibody-Mediated Neurological Autoimmune Diseases. — https://clinicaltrials.gov/study/NCT07526493
- **NCT05503264** [RECRUITING]: A Study to Evaluate the Efficacy, Safety, Pharmacokinetics (PK), and Pharmacodynamics (PD) of Satralizumab in Participants With Anti-N-methyl-D-aspartic Acid Receptor (NMDAR) or Anti-leucine-rich Glioma-inactivated 1 (LGI1) Encephalitis — https://clinicaltrials.gov/study/NCT05503264
- **NCT06019975** [RECRUITING]: FDG-PET in the Diagnosis of Autoimmune Encephalitis — https://clinicaltrials.gov/study/NCT06019975
- **NCT07477015** [RECRUITING]: Study of Pathogenic Mechanisms and Identification of Novel Autoantibodies in Autoimmune Encephalitis — https://clinicaltrials.gov/study/NCT07477015
- **NCT06863974** [RECRUITING]: High-throughput Omic Technology for Identification of Biomarkers of Relapsing Acute Disseminated Encephalomyelitis in Immune Cell Network — https://clinicaltrials.gov/study/NCT06863974
- **NCT07158229** [RECRUITING]: Long-term Impact of NMDAR Encephalitis, Level 3 — https://clinicaltrials.gov/study/NCT07158229
- **NCT06368648** [RECRUITING]: CoMind Early Feasibility Study — https://clinicaltrials.gov/study/NCT06368648
- **NCT07337785** [RECRUITING]: CD19/BCMA-Targeted UCAR-T for Patients With Neurological Autoimmune Diseases — https://clinicaltrials.gov/study/NCT07337785
- **NCT07358910** [RECRUITING]: Risk Assessment of Community Spread of Multiple Endemic Infectious Diseases in a One Health Perspective — https://clinicaltrials.gov/study/NCT07358910
- **NCT04806620** [RECRUITING]: Unhide® Project: A Digital Health Platform to Collect Lifestyle Data for Brain Inflammation Research — https://clinicaltrials.gov/study/NCT04806620

## Doenças relacionadas (por similaridade fenotípica)

- [Encefalite infecciosa](https://raras.org/doenca/encefalite-infecciosa) — ORPHA:98252 — 184 sintomas em comum
- [Encefalite japonesa](https://raras.org/doenca/encefalite-japonesa) — ORPHA:79139 — 83 sintomas em comum
- [Encefalite por picada de carrapato](https://raras.org/doenca/297) — ORPHA:297 — 65 sintomas em comum
- [Epilepsia, mioclonia progressiva](https://raras.org/doenca/epilepsia-mioclonia-progressiva) — ORPHA:98261 — 59 sintomas em comum
- [NÃO RARA NA EUROPA: Doença de Parkinson](https://raras.org/doenca/nao-rara-na-europa-doenca-de-parkinson) — ORPHA:319705 — 55 sintomas em comum
- [Síndrome distonia-plus](https://raras.org/doenca/sindrome-distonia-plus) — ORPHA:98203 — 54 sintomas em comum
- [Encefalite receptor NMDA](https://raras.org/doenca/encefalite-receptor-nmda) — ORPHA:217253 — 53 sintomas em comum
- [Gangliosidose GM2](https://raras.org/doenca/gangliosidose-gm2) — ORPHA:309152 — 53 sintomas em comum
- [Encefalite disseminada aguda](https://raras.org/doenca/encefalite-disseminada-aguda) — ORPHA:83597 — 53 sintomas em comum
- [Doença do metabolismo da tiamina](https://raras.org/doenca/doenca-do-metabolismo-da-tiamina) — ORPHA:298644 — 52 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 — Encefalite. Disponível em: https://raras.org/doenca/encefalite
**Formato HTML**: https://raras.org/doenca/encefalite
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=97275