# Glioma

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

## Identificadores

- **ORPHA**: 182067 — https://www.orpha.net/en/disease/detail/182067
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

É um tipo de tumor, benigno (não canceroso) ou maligno (canceroso), que pode surgir no cérebro ou na medula espinhal. Ele se desenvolve a partir das células gliais, que são células de suporte presentes no sistema nervoso. Os tumores que se originam dos astrócitos são chamados de tumores astrocíticos ou astrocitomas. Aqueles que surgem dos oligodendrócitos são conhecidos como tumores oligodendrogliais. Já os tumores que se desenvolvem a partir das células ependimárias são chamados de ependimomas.

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000

## Sinais e sintomas (137 fenótipos HPO)

- **Episódios agudos de sintomas neuropáticos** — HPO: HP:0003489
- **Neoplasia** — HPO: HP:0002664
- **Escoliose** — HPO: HP:0002650
- **Fraqueza muscular** — HPO: HP:0001324
- **Comprometimento da linguagem** — HPO: HP:0002463
- **Morfologia anormal da substância branca cerebral** — HPO: HP:0002500
- **Morfologia anormal do corpo caloso** — HPO: HP:0001273
- **Edema cerebral** — HPO: HP:0002181
- **Glioblastoma multiforme** — HPO: HP:0012174
- **Anormalidade da fisiologia do sistema nervoso** — HPO: HP:0012638
- **Labilidade emocional** — HPO: HP:0000712
- **Paralisia** — HPO: HP:0003470
- **Papiledema** — HPO: HP:0001085
- **Puberdade precoce** — HPO: HP:0000826
- **Anormalidade do sistema nervoso** — HPO: HP:0000707
- **Oftalmoplegia** — HPO: HP:0000602
- **Proptose** — HPO: HP:0000520
- **Estrabismo** — HPO: HP:0000486
- **Nistagmo** — HPO: HP:0000639
- **Perda visual** — HPO: HP:0000572
- **Regressão do desenvolvimento** — HPO: HP:0002376
- **Náusea** — HPO: HP:0002018
- **Atraso de crescimento** — HPO: HP:0001510
- **Cegueira** — HPO: HP:0000618
- **Atrofia óptica** — HPO: HP:0000648
- **Fraqueza fatigável** — HPO: HP:0003473
- **Deficiência auditiva** — HPO: HP:0000365
- **Fasciculações** — HPO: HP:0002380
- **Lipoma** — HPO: HP:0012032
- **Catarata** — HPO: HP:0000518
- **Zumbido** — HPO: HP:0000360
- **Hipoestesia** — HPO: HP:0033748
- **Neoplasia da hipófise anterior** — HPO: HP:0011750
- **Voz fraca** — HPO: HP:0001621
- **Hemangioma lombossacral** — HPO: HP:0410275
- **Leiomioma uterino** — HPO: HP:0000131
- **Parestesia** — HPO: HP:0003401
- **Atraso global do desenvolvimento** — HPO: HP:0001263
- **Hidrocefalia** — HPO: HP:0000238
- **Acuidade visual reduzida** — HPO: HP:0007663
- _...e mais 97 sintomas. Ver https://raras.org/doenca/glioma._

## Genes associados (30)

- **IDH2** — Isocitrate dehydrogenase [NADP], mitochondrial [Candidate gene tested in]
  - Função: Plays a role in intermediary metabolism and energy production (PubMed:19228619, PubMed:22416140). It may tightly associate or interact with the pyruvate dehydrogenase complex (PubMed:19228619, PubMed:
- **ROS1** — Proto-oncogene tyrosine-protein kinase ROS [Candidate gene tested in]
  - Função: Receptor tyrosine kinase (RTK) that plays a role in epithelial cell differentiation and regionalization of the proximal epididymal epithelium. NELL2 is an endogenous ligand for ROS1. Upon endogenous s
- **IDH1** — Isocitrate dehydrogenase [NADP] cytoplasmic [Candidate gene tested in]
  - Função: Catalyzes the NADP(+)-dependent oxidative decarboxylation of isocitrate (D-threo-isocitrate) to 2-ketoglutarate (2-oxoglutarate), which is required by other enzymes such as the phytanoyl-CoA dioxygena
- **RELA** — Transcription factor p65 [Candidate gene tested in]
  - Função: NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to
- **TP53** — Cellular tumor antigen p53 [Candidate gene tested in]
  - Função: Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775
- **TACC1** — Transforming acidic coiled-coil-containing protein 1 [Candidate gene tested in]
  - Função: Involved in transcription regulation induced by nuclear receptors, including in T3 thyroid hormone and all-trans retinoic acid pathways (PubMed:20078863). Might promote the nuclear localization of the
- **NF2** — Merlin [Candidate gene tested 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
- **EGFR** — Epidermal growth factor receptor [Candidate gene tested in]
  - Função: Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses (PubMed:10805725, PubMed:27153536
- **PPARG** — Peroxisome proliferator-activated receptor gamma [Candidate gene tested in]
  - Função: Ligand-activated transcription factor that forms obligate heterodimers with the retinoic acid receptor and acts as a key regulator of biological processes, such as adipocyte differentiation, lipid met
- **TACC3** — Transforming acidic coiled-coil-containing protein 3 [Candidate gene tested in]
  - Função: Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progeni
- **NFKBIA** — NF-kappa-B inhibitor alpha [Candidate gene tested in]
  - Função: Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL (RELA/p65 and NFKB1/p50) dimers in the cytoplasm by masking their nuclear localization signals (PubMed:1493333, PubMed:3665180
- **LZTR1** — Leucine-zipper-like transcriptional regulator 1 [Candidate gene tested in]
  - Função: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates ubiquitination of Ras (K-Ras/KRAS, N-Ras/NRAS and H-Ras/HRAS) (PubMed:30442762, PubMed:30442766, P
- **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
- **COQ6** — Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial [Candidate gene tested in]
  - Função: FAD-dependent monooxygenase required for two non-consecutive steps during ubiquinone biosynthesis (PubMed:26260787, PubMed:38425362). Required for the C5-ring hydroxylation during ubiquinone biosynthe
- **SEPTIN14** — Septin-14 [Candidate gene tested in]
  - Função: Filament-forming cytoskeletal GTPase (Probable). Involved in the migration of cortical neurons and the formation of neuron leading processes during embryonic development (By similarity). Plays a role

## Ensaios clínicos ativos (18)

- **NCT06636162** [RECRUITING]: Window of Opportunity Study of DSP-0390 in Gliomas — https://clinicaltrials.gov/study/NCT06636162
- **NCT03684109** [RECRUITING]: Non-invasive Glioma Characterization Through Molecular Imaging — https://clinicaltrials.gov/study/NCT03684109
- **NCT03340506** [RECRUITING]: Dabrafenib and/or Trametinib Rollover Study — https://clinicaltrials.gov/study/NCT03340506
- **NCT06326411** [RECRUITING]: A Study to Investigate the Safety and Efficacy of NST-628 Oral Tablets in Subjects With Solid Tumors — https://clinicaltrials.gov/study/NCT06326411
- **NCT07539441** [RECRUITING]: A Study of Mirdametinib in People With Central Nervous System Tumors — https://clinicaltrials.gov/study/NCT07539441
- **NCT05099003** [RECRUITING]: A Study of the Drug Selinexor With Radiation Therapy in Patients With Newly-Diagnosed Diffuse Intrinsic Pontine (DIPG) Glioma and High-Grade Glioma (HGG) — https://clinicaltrials.gov/study/NCT05099003
- **NCT05698524** [RECRUITING]: A Study of Temodar With Abexinostat (PCI-24781) for Patients With Recurrent Glioma — https://clinicaltrials.gov/study/NCT05698524
- **NCT03728673** [RECRUITING]: A Study Utilizing Escitalopram in Glioma Patients — https://clinicaltrials.gov/study/NCT03728673
- **NCT07042620** [RECRUITING]: A Study to Test a New Fluid to Improve the Quality of Images Obtained by Using Sound Waves (Ultrasound) During Surgery — https://clinicaltrials.gov/study/NCT07042620
- **NCT05580562** [RECRUITING]: ONC201 in H3 K27M-mutant Diffuse Glioma Following Radiotherapy (the ACTION Study) — https://clinicaltrials.gov/study/NCT05580562

## Doenças relacionadas (por similaridade fenotípica)

- [Tumor dos nervos cranianos e espinhais](https://raras.org/doenca/tumor-dos-nervos-cranianos-e-espinhais) — ORPHA:252057 — 92 sintomas em comum
- [Tumor benigno da bainha dos nervos periféricos](https://raras.org/doenca/tumor-benigno-da-bainha-dos-nervos-perifericos) — ORPHA:252131 — 71 sintomas em comum
- [Schwannoma benigno](https://raras.org/doenca/schwannoma-benigno) — ORPHA:252164 — 47 sintomas em comum
- [Astrocitoma](https://raras.org/doenca/astrocitoma) — ORPHA:94 — 33 sintomas em comum
- [Neurofibroma](https://raras.org/doenca/neurofibroma) — ORPHA:252183 — 28 sintomas em comum
- [Tumor das meninges](https://raras.org/doenca/tumor-das-meninges) — ORPHA:252025 — 26 sintomas em comum
- [Meningioma](https://raras.org/doenca/meningioma) — ORPHA:2495 — 26 sintomas em comum
- [Schwannomatose de espectro clínico completo](https://raras.org/doenca/schwannomatose-de-espectro-clinico-completo) — ORPHA:93921 — 26 sintomas em comum
- [Ependimoma](https://raras.org/doenca/ependimoma) — ORPHA:301 — 26 sintomas em comum
- [Síndrome de microdeleção 17q11](https://raras.org/doenca/sindrome-de-microdelecao-17q11) — ORPHA:97685 — 23 sintomas em comum

## Importante

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Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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