# Doença infecciosa do sistema nervoso

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

## Identificadores

- **ORPHA**: 98010 — https://www.orpha.net/en/disease/detail/98010
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Uma doença infecciosa que envolve o sistema nervoso.

## Epidemiologia e herança


## Sinais e sintomas (471 fenótipos HPO)

- **Fraqueza da musculatura facial** — HPO: HP:0030319
- **Paresia das cordas vocais** — HPO: HP:0001604
- **Paralisia cerebral** — HPO: HP:0100021
- **Morte cardíaca súbita** — HPO: HP:0001645
- **Hepatomegalia** — HPO: HP:0002240
- **Atraso global do desenvolvimento** — HPO: HP:0001263
- **Linfadenopatia** — HPO: HP:0002716
- **Cardiomegalia** — HPO: HP:0001640
- **Déficit de crescimento na infância** — HPO: HP:0001531
- **Calcificação cerebral** — HPO: HP:0002514
- **Anemia** — HPO: HP:0001903
- **Microftalmia** — HPO: HP:0000568
- **Microcefalia** — HPO: HP:0000252
- **Atrofia cortical cerebral** — HPO: HP:0002120
- **Atraso no desenvolvimento da fala e da linguagem** — HPO: HP:0000750
- **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
- **Coordenação motora fina pobre** — HPO: HP:0007010
- **Movimentos bruscos da cabeça** — HPO: HP:0006961
- **Postura anormal** — HPO: HP:0002533
- **Movimentos anormais da cabeça** — HPO: HP:0002457
- **Anormalidade do sistema nervoso** — HPO: HP:0000707
- **Anormalidade do ombro** — HPO: HP:0003043
- **Hipocinesia** — HPO: HP:0002375
- **Quedas frequentes** — HPO: HP:0002359
- **Anormalidade do rastreamento ocular suave** — HPO: HP:0000617
- **Movimentos sacádicos oculares anormais** — HPO: HP:0000570
- **Hemianopsia homônima** — HPO: HP:0030516
- **Defeito do campo visual** — HPO: HP:0001123
- **Faringite recorrente** — HPO: HP:0100776
- **Simultagnosia** — HPO: HP:0040201
- **Movimentos oculares de perseguição sacádicos** — HPO: HP:0008003
- **Hipotonia generalizada** — HPO: HP:0001290
- **Movimentos sacádicos lentos** — HPO: HP:0000514
- **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
- _...e mais 431 sintomas. Ver https://raras.org/doenca/doenca-infecciosa-do-sistema-nervoso._

## Genes associados (9)

- **PRNP** — Major prion protein [Disease-causing germline mutation(s) in]
  - Função: Its primary physiological function is unclear. May play a role in neuronal development and synaptic plasticity. May be required for neuronal myelin sheath maintenance. May promote myelin homeostasis t
- **HLA-DQB1** — HLA class II histocompatibility antigen, DQ 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
- **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
- **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

## Medicamentos em desenvolvimento (11)

- DEXAMETHASONE — Fase Phase 4 (Glucocorticoid receptor agonist)
- NOREPINEPHRINE BITARTRATE — Fase Phase 4 (Adrenergic receptor agonist)
- HYDROCORTISONE — Fase Phase 4 (Glucocorticoid receptor agonist)
- DEXAMETHASONE SODIUM PHOSPHATE — Fase Phase 4 (Glucocorticoid receptor agonist)
- PREDNISONE — Fase Phase 4 (Glucocorticoid receptor agonist)
- PREDNISOLONE — Fase Phase 4 (Glucocorticoid receptor agonist)
- CORTISONE ACETATE — Fase Phase 4 (Glucocorticoid receptor agonist)
- SERTRALINE — Fase Phase 3 (Serotonin transporter inhibitor)
- SATRALIZUMAB — Fase Phase 3 (IL6Ralpha/GP130 antagonist)
- VALPROIC ACID — Fase Phase 3 (Succinate semialdehyde dehydrogenase inhibitor)
- Fonte: https://platform.opentargets.org/disease/MONDO_0020010

## Ensaios clínicos ativos (5)

- **NCT01780168** [RECRUITING]: The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism — https://clinicaltrials.gov/study/NCT01780168
- **NCT05452564** [RECRUITING]: Baricitinib for Reduction of HIV - CNS — https://clinicaltrials.gov/study/NCT05452564
- **NCT07435649** [NOT_YET_RECRUITING]: Investigation of the Delve Detect Cerebrospinal Fluid (CSF) Metagenomic Next-generation Sequencing (mNGS) Test When Used for the Initial Diagnostic Workup of Patients With Suspected Central Nervous System (CNS) Infection — https://clinicaltrials.gov/study/NCT07435649
- **NCT07485283** [NOT_YET_RECRUITING]: Recombinant Herpes Zoster Vaccine for Prevention of Cardiovascular Events and Dementia — https://clinicaltrials.gov/study/NCT07485283
- **NCT01730131** [RECRUITING]: Natural History Study of Progressive Multifocal Leukoencephalopathy (PML) — https://clinicaltrials.gov/study/NCT01730131

## 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
- [Epilepsia, mioclonia progressiva](https://raras.org/doenca/epilepsia-mioclonia-progressiva) — ORPHA:98261 — 80 sintomas em comum
- [Síndrome distonia-plus](https://raras.org/doenca/sindrome-distonia-plus) — ORPHA:98203 — 76 sintomas em comum
- [NÃO RARA NA EUROPA: Doença de Parkinson](https://raras.org/doenca/nao-rara-na-europa-doenca-de-parkinson) — ORPHA:319705 — 75 sintomas em comum
- [Gangliosidose GM2](https://raras.org/doenca/gangliosidose-gm2) — ORPHA:309152 — 74 sintomas em comum
- [Deficiência de complexo III isolada](https://raras.org/doenca/deficiencia-de-complexo-iii-isolada) — ORPHA:1460 — 73 sintomas em comum
- [Lipofuscinose ceroide neuronal](https://raras.org/doenca/lipofuscinose-ceroide-neuronal) — ORPHA:216 — 72 sintomas em comum
- [Doença de Krabbe](https://raras.org/doenca/doenca-de-krabbe) — ORPHA:487 — 68 sintomas em comum
- [Doença das células dos cornos anteriores, adquirida](https://raras.org/doenca/doenca-das-celulas-dos-cornos-anteriores-adquirida) — ORPHA:98506 — 68 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 — Doença infecciosa do sistema nervoso. Disponível em: https://raras.org/doenca/doenca-infecciosa-do-sistema-nervoso
**Formato HTML**: https://raras.org/doenca/doenca-infecciosa-do-sistema-nervoso
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=98010