# Tumor das meninges

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

## Identificadores

- **ORPHA**: 252025 — https://www.orpha.net/en/disease/detail/252025
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Neoplasia benigna ou maligna que afeta as meninges. A maioria das neoplasias surge de células meningoteliais e são chamadas de meningiomas. As neoplasias de células não meningoteliais incluem tumores mesenquimais, não meningoteliais, hemangiopericitomas e lesões melanocíticas.

## Epidemiologia e herança


## Sinais e sintomas (76 fenótipos HPO)

- **Concentração sérica de testosterona diminuída** — HPO: HP:0040171
- **Neoplasia da língua** — HPO: HP:0100648
- **Morfologia anormal do mediastino** — HPO: HP:0045026
- **Comprometimento progressivo da função pulmonar** — HPO: HP:0006520
- **Anormalidade da fala ou vocalização** — HPO: HP:0002167
- **Hemorragia cerebral** — HPO: HP:0001342
- **Comprometimento cognitivo** — HPO: HP:0100543
- **Meningioma espinhal** — HPO: HP:0100010
- **Anormalidade da função motora central** — HPO: HP:0011442
- **Fraqueza muscular do membro inferior** — HPO: HP:0007340
- **Paralisia de nervo craniano** — HPO: HP:0006824
- **Anormalidade do olfato** — HPO: HP:0004408
- **Náusea e vômito** — HPO: HP:0002017
- **Impotência** — HPO: HP:0000802
- **Distúrbio da marcha** — HPO: HP:0001288
- **Neoplasia da hipófise posterior** — HPO: HP:0011752
- **Proptose** — HPO: HP:0000520
- **Incontinência urinária** — HPO: HP:0000020
- **Aumento da pressão intracraniana** — HPO: HP:0002516
- **Comprometimento da memória** — HPO: HP:0002354
- **Papiledema** — HPO: HP:0001085
- **Neurofibromas** — HPO: HP:0001067
- **Hidrocefalia** — HPO: HP:0000238
- **Hemianopsia bitemporal** — HPO: HP:0030521
- **Dor de ouvido** — HPO: HP:0030766
- **Fisiologia anormal do hipotálamo** — HPO: HP:0012285
- **Início na idade adulta** — HPO: HP:0003581
- **Meningioma** — HPO: HP:0002858
- **Quebra cromossômica induzida por radiação ionizante** — HPO: HP:0010997
- **Nível diminuído de cortisol circulante** — HPO: HP:0008163
- **Ataxia** — HPO: HP:0001251
- **Concentração reduzida de prolactina circulante** — HPO: HP:0008202
- **Paralisia facial** — HPO: HP:0010628
- **Anormalidade da função sensorial central** — HPO: HP:0011730
- **Neoplasia da hipófise anterior** — HPO: HP:0011750
- **Neuralgia trigeminal** — HPO: HP:0100661
- **Zumbido** — HPO: HP:0000360
- **Cegueira** — HPO: HP:0000618
- **Neoplasia da pele** — HPO: HP:0008069
- **Hipogonadismo hipogonadotrófico** — HPO: HP:0000044
- _...e mais 36 sintomas. Ver https://raras.org/doenca/tumor-das-meninges._

## Genes associados (13)

- **MN1** — Transcriptional activator MN1 [Disease-causing germline mutation(s) in]
  - Função: Transcriptional activator which specifically regulates expression of TBX22 in the posterior region of the developing palate. Required during later stages of palate development for growth and medial fu
- **PTEN** — Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN [Candidate gene tested in]
  - Função: Dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins (PubMed:9187108, PubMed:9256433, PubMed:9616126). Also functions as a lipid phosphatase
- **AKT1** — RAC-alpha serine/threonine-protein kinase [Candidate gene tested in]
  - Função: AKT1 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, gro
- **TERT** — Telomerase reverse transcriptase [Candidate gene tested in]
  - Função: Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somati
- **PIK3CA** — Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform [Candidate gene tested in]
  - Função: Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:15135396, PubMed:
- **BAP1** — Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 [Candidate gene tested in]
  - Função: Plays a role in coupling actin fibers to cell junctions in endothelial cells, via its interaction with AMOTL2 and CDH5 (By similarity). May regulate acid-induced ASIC3 currents by modulating its expre
- **SMARCB1** — SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 [Candidate gene tested in]
  - Função: Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhi
- **SMO** — Spermine oxidase [Candidate gene tested in]
  - Função: Flavoenzyme which catalyzes the oxidation of spermine to spermidine. Can also use N(1)-acetylspermine and spermidine as substrates, with different affinity depending on the isoform (isozyme) and on th
- **TRAF7** — E3 ubiquitin-protein ligase TRAF7 [Candidate gene tested in]
  - Função: E3 ubiquitin and SUMO-protein ligase that plays a role in different biological processes such as innate immunity, inflammation or apoptosis (PubMed:15001576, PubMed:37086853). Potentiates MAP3K3-media
- **SMARCE1** — SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 [Candidate gene tested in]
  - Função: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry ou
- **SUFU** — Suppressor of fused homolog [Candidate gene tested in]
  - Função: Negative regulator in the hedgehog/smoothened signaling pathway (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:12068298, PubMed:12975309, PubMed:15367681, PubMed:22365972, PubMed:24217340,
- **PDGFB** — Platelet-derived growth factor subunit B [Disease-causing germline mutation(s) in]
  - Função: Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin (PubM
- **NF2** — Merlin [Disease-causing germline mutation(s) in]
  - Função: Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with

## Doenças relacionadas (por similaridade fenotípica)

- [Meningioma](https://raras.org/doenca/meningioma) — ORPHA:2495 — 76 sintomas em comum
- [Glioma](https://raras.org/doenca/glioma) — ORPHA:182067 — 26 sintomas em comum
- [Deficiência de hormônio pituitário adquirida](https://raras.org/doenca/deficiencia-de-hormonio-pituitario-adquirida) — ORPHA:95502 — 19 sintomas em comum
- [Encefalite infecciosa](https://raras.org/doenca/encefalite-infecciosa) — ORPHA:98252 — 18 sintomas em comum
- [Adenoma hipofisário isolado familiar](https://raras.org/doenca/adenoma-hipofisario-isolado-familiar) — ORPHA:314777 — 17 sintomas em comum
- [Schwannomatose de espectro clínico completo NF2-relacionada](https://raras.org/doenca/schwannomatose-de-espectro-clinico-completo-nf2-relacionada) — ORPHA:637 — 17 sintomas em comum
- [Adrenoleucodistrofia ligada ao X](https://raras.org/doenca/adrenoleucodistrofia-ligada-ao-x) — ORPHA:43 — 16 sintomas em comum
- [Craniofaringioma](https://raras.org/doenca/craniofaringioma) — ORPHA:54595 — 15 sintomas em comum
- [Tumor dos nervos cranianos e espinhais](https://raras.org/doenca/tumor-dos-nervos-cranianos-e-espinhais) — ORPHA:252057 — 14 sintomas em comum
- [Tumor neuronal-glial misto](https://raras.org/doenca/tumor-neuronal-glial-misto) — ORPHA:251934 — 14 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.

---

**Citação sugerida**: Raras.org — Tumor das meninges. Disponível em: https://raras.org/doenca/tumor-das-meninges
**Formato HTML**: https://raras.org/doenca/tumor-das-meninges
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=252025