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ORPHA:182067DOENÇA RARA
Esta doença tem causa genética. Recomendamos procurar um médico geneticista para diagnóstico, exames genéticos e aconselhamento familiar.
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Também conhecida comoGliomas

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.

Última verificação: Fonte: sem afirmação sobre o SUS a verificarEm construçãohistóricoSugerir correção
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

💬
EM LINGUAGEM SIMPLES

O glioma é um tumor que se forma a partir das células de apoio do sistema nervoso, podendo atingir o cérebro ou a medula espinhal. A pessoa acometida pode sentir fraqueza muscular, alterações visuais, dores de cabeça com náuseas ou dificuldades de linguagem. No Brasil, a condição não conta com um protocolo clínico específico na lista de doenças raras, mas é atendida pelos serviços oncológicos do SUS. Centenas de estudos clínicos mundiais continuam investigando novas formas de tratamento, inclusive com centros de estudo no Brasil.

📋
Informacoes curadas por IA — podem conter imprecisoes

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.

Pesquisas ativas
400 ensaios
1408 total registrados no ClinicalTrials.gov
Publicações científicas
793 artigos
Último publicado: 2026 Mar

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-5 / 10 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
26.0
Europe
🏥
SUS: Sem cobertura SUSScore: 0%
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
18 sintomas
📏
Crescimento
11 sintomas
👁️
Olhos
9 sintomas
🫃
Digestivo
9 sintomas
🦴
Ossos e articulações
6 sintomas
👂
Ouvidos
6 sintomas

+ 66 sintomas em outras categorias

Características mais comuns

—
Episódios agudos de sintomas neuropáticos
—
Neoplasia
—
Escoliose
—
Fraqueza muscular
—
Comprometimento da linguagem
—
Morfologia anormal da substância branca cerebral
137sintomas
Sem dados (137)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 137 características clínicas mais associadas, ordenadas por frequência.

Episódios agudos de sintomas neuropáticosAcute episodes of neuropathic symptoms
NeoplasiaNeoplasm
EscolioseScoliosis
Fraqueza muscularMuscle weakness
Comprometimento da linguagemLanguage impairment

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico793PubMed
Últimos 10 anos200publicações
Pico202035 papers
Linha do tempo
2026Hoje · 2026🧪 1979Primeiro ensaio clínico📈 2020Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

30 genes identificados com associação a esta condição.

IDH2Isocitrate dehydrogenase [NADP], mitochondrialCandidate gene tested inAltamente restrito
VIAS BIOLÓGICAS (4)
Citric acid cycle (TCA cycle)Maturation of TCA enzymes and regulation of TCA cycleMitochondrial protein degradationTranscriptional activation of mitochondrial biogenesis
MECANISMO DE DOENÇA

D-2-hydroxyglutaric aciduria 2

A neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine.

EXPRESSÃO TECIDUAL(Ubíquo)
Músculo esquelético
442.8 TPM
Coração - Ventrículo esquerdo
311.5 TPM
Rim - Medula
273.8 TPM
Linfócitos
186.0 TPM
Fígado
184.7 TPM
OUTRAS DOENÇAS (13)
d-2-hydroxyglutaric aciduria 2anaplastic oligodendrogliomagemistocytic astrocytomaoligoastrocytoma
HGNC:5383UniProt:P48735
ROS1Proto-oncogene tyrosine-protein kinase ROSCandidate gene tested inTolerante
EXPRESSÃO TECIDUAL(Tecido-específico)
Pulmão
11.1 TPM
Fibroblastos
3.0 TPM
Testículo
1.0 TPM
Córtex cerebral
0.8 TPM
Brain Frontal Cortex BA9
0.8 TPM
OUTRAS DOENÇAS (2)
cholangiocarcinomagiant cell glioblastoma
HGNC:10261UniProt:P08922
IDH1Isocitrate dehydrogenase [NADP] cytoplasmicCandidate gene tested inTolerante
VIAS BIOLÓGICAS (3)
NADPH regenerationNFE2L2 regulating TCA cycle genesPeroxisomal protein import
MECANISMO DE DOENÇA

Glioma

Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.

EXPRESSÃO TECIDUAL(Ubíquo)
Glândula adrenal
266.5 TPM
Fígado
100.4 TPM
Esôfago - Mucosa
99.8 TPM
Tecido adiposo
81.8 TPM
Próstata
77.7 TPM
OUTRAS DOENÇAS (7)
Maffucci syndromemetaphyseal chondromatosis with D-2-hydroxyglutaric aciduriaacute myeloid leukemia with multilineage dysplasiaOllier disease
HGNC:5382UniProt:O75874
RELATranscription factor p65Candidate gene tested inAltamente restrito
VIAS BIOLÓGICAS (10)
TAK1-dependent IKK and NF-kappa-B activation TRAF6 mediated NF-kB activationRIP-mediated NFkB activation via ZBP1DEx/H-box helicases activate type I IFN and inflammatory cytokines production IkBA variant leads to EDA-ID
EXPRESSÃO TECIDUAL(Ubíquo)
Artéria tibial
113.1 TPM
Útero
107.8 TPM
Aorta
106.1 TPM
Nervo tibial
99.7 TPM
Cervix Endocervix
98.3 TPM
OUTRAS DOENÇAS (3)
mucocutaneous ulceration, chroniccombined immunodeficiency due to RELA haploinsufficiencyRELA fusion-positive ependymoma
HGNC:9955UniProt:Q04206
TP53Cellular tumor antigen p53Candidate gene tested inAltamente restrito
VIAS BIOLÓGICAS (10)
TP53 Regulates Metabolic GenesRegulation of TP53 ExpressionRegulation of TP53 DegradationOncogene Induced SenescenceOxidative Stress Induced Senescence
EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
73.0 TPM
Skin Sun Exposed Lower leg
37.0 TPM
Skin Not Sun Exposed Suprapubic
35.2 TPM
Fibroblastos
32.9 TPM
Ovário
32.4 TPM
OUTRAS DOENÇAS (29)
Li-Fraumeni syndromenasopharyngeal carcinoma, susceptibility to, 1hepatocellular carcinomafamilial pancreatic carcinoma
HGNC:11998UniProt:P04637
TACC1Transforming acidic coiled-coil-containing protein 1Candidate gene tested inTolerante
VIAS BIOLÓGICAS (1)
Signaling by plasma membrane FGFR1 fusions
EXPRESSÃO TECIDUAL(Ubíquo)
Nervo tibial
142.9 TPM
Esôfago - Muscular
140.6 TPM
Útero
124.4 TPM
Esôfago - Junção
122.5 TPM
Tecido adiposo
119.2 TPM
OUTRAS DOENÇAS (2)
giant cell glioblastomagliosarcoma
HGNC:11522UniProt:O75410
NF2MerlinCandidate gene tested inAltamente restrito
VIAS BIOLÓGICAS (2)
Regulation of actin dynamics for phagocytic cup formationRHO GTPases activate PAKs
MECANISMO DE DOENÇA

Schwannomatosis, vestibular

An autosomal dominant neoplasia syndrome characterized by the development of multiple benign nerve sheath tumors called schwannomas, particularly affecting the vestibular nerve. Affected individuals usually present with bilateral vestibular schwannomas but can have schwannomas on other cranial, spinal, and peripheral/cutaneous nerves. Meningiomas are common, whereas 20 to 35% of affected individuals develop intramedullary spinal cord tumors called ependymomas. The condition is also characterized by several ophthalmic features such as lenticular opacities, retinal hamartoma, epiretinal membranes.

EXPRESSÃO TECIDUAL(Ubíquo)
Cerebelo
30.4 TPM
Cérebro - Hemisfério cerebelar
27.6 TPM
Córtex cerebral
25.9 TPM
Fibroblastos
25.9 TPM
Brain Frontal Cortex BA9
24.3 TPM
OUTRAS DOENÇAS (5)
NF2-related schwannomatosisfamilial meningiomamosaic NF2-related schwannomatosismeningioma
HGNC:7773UniProt:P35240
EGFREpidermal growth factor receptorCandidate gene tested inRestrito
VIAS BIOLÓGICAS (10)
Signaling by EGFRInhibition of Signaling by Overexpressed EGFRSignaling by ERBB2Signaling by ERBB4Signaling by ERBB2 TMD/JMD mutants
MECANISMO DE DOENÇA

Lung cancer

A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis.

EXPRESSÃO TECIDUAL(Ubíquo)
Skin Sun Exposed Lower leg
78.3 TPM
Skin Not Sun Exposed Suprapubic
75.9 TPM
Fibroblastos
60.6 TPM
Nervo tibial
43.1 TPM
Vagina
40.6 TPM
OUTRAS DOENÇAS (4)
inflammatory skin and bowel disease, neonatal, 2lung cancergliosarcomagiant cell glioblastoma
HGNC:3236UniProt:P00533
PPARGPeroxisome proliferator-activated receptor gammaCandidate gene tested inModerado
VIAS BIOLÓGICAS (7)
Regulation of PTEN gene transcriptionTranscriptional regulation of white adipocyte differentiationPPARA activates gene expressionMECP2 regulates transcription factorsNuclear Receptor transcription pathway
EXPRESSÃO TECIDUAL(Ubíquo)
Tecido adiposo
111.2 TPM
Adipose Visceral Omentum
100.8 TPM
Mama
71.3 TPM
Cólon transverso
21.6 TPM
Fibroblastos
20.4 TPM
OUTRAS DOENÇAS (6)
type 2 diabetes mellitusPPARG-related familial partial lipodystrophyinherited obesitygliosarcoma
HGNC:9236UniProt:P37231
TACC3Transforming acidic coiled-coil-containing protein 3Candidate gene tested inTolerante
VIAS BIOLÓGICAS (2)
Negative regulation of NOTCH4 signalingNOTCH3 Activation and Transmission of Signal to the Nucleus
EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
122.0 TPM
Linfócitos
98.8 TPM
Sangue
80.8 TPM
Baço
44.0 TPM
Fibroblastos
29.4 TPM
OUTRAS DOENÇAS (2)
giant cell glioblastomagliosarcoma
HGNC:11524UniProt:Q9Y6A5
NFKBIANF-kappa-B inhibitor alphaCandidate gene tested inAltamente restrito
VIAS BIOLÓGICAS (10)
RIP-mediated NFkB activation via ZBP1TRAF6 mediated NF-kB activationTAK1-dependent IKK and NF-kappa-B activation NF-kB is activated and signals survivalCLEC7A (Dectin-1) signaling
MECANISMO DE DOENÇA

Ectodermal dysplasia and immunodeficiency 2

A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. This form of ectodermal dysplasia is associated with decreased production of pro-inflammatory cytokines and certain interferons, rendering patients susceptible to infection. EDAID2 inheritance is autosomal dominant.

EXPRESSÃO TECIDUAL(Ubíquo)
Pulmão
497.5 TPM
Nervo tibial
450.8 TPM
Baço
352.8 TPM
Ovário
332.9 TPM
Skin Not Sun Exposed Suprapubic
320.1 TPM
OUTRAS DOENÇAS (5)
ectodermal dysplasia and immunodeficiency 2ectodermal dysplasia and immune deficiencygiant cell glioblastomanasopharyngeal carcinoma
HGNC:7797UniProt:P25963
LZTR1Leucine-zipper-like transcriptional regulator 1Candidate gene tested inTolerante
MECANISMO DE DOENÇA

Glioma

Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.

EXPRESSÃO TECIDUAL(Ubíquo)
Pituitária
76.5 TPM
Nervo tibial
68.8 TPM
Útero
67.8 TPM
Cervix Ectocervix
65.1 TPM
Cervix Endocervix
61.7 TPM
OUTRAS DOENÇAS (9)
Noonan syndrome 10RASopathyNoonan syndrome 2cafe au lait spots, multiple
HGNC:6742UniProt:Q8N653
SMARCB1SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1Candidate gene tested inAltamente restrito
VIAS BIOLÓGICAS (8)
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not knownRMTs methylate histone argininesFormation of neuronal progenitor and neuronal BAF (npBAF and nBAF)Formation of the embryonic stem cell BAF (esBAF) complexFormation of the polybromo-BAF (pBAF) complex
MECANISMO DE DOENÇA

Rhabdoid tumor predisposition syndrome 1

A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
136.4 TPM
Testículo
110.5 TPM
Cérebro - Hemisfério cerebelar
98.7 TPM
Cerebelo
93.5 TPM
Ovário
93.2 TPM
OUTRAS DOENÇAS (9)
rhabdoid tumor predisposition syndrome 1intellectual disability, autosomal dominant 15familial multiple meningiomaschwannomatosis
HGNC:11103UniProt:Q12824
COQ6Ubiquinone biosynthesis monooxygenase COQ6, mitochondrialCandidate gene tested inTolerante
VIAS BIOLÓGICAS (1)
Ubiquinol biosynthesis
MECANISMO DE DOENÇA

Coenzyme Q10 deficiency, primary, 6

An autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis.

VIAS REACTOME (1)
OUTRAS DOENÇAS (2)
familial steroid-resistant nephrotic syndrome with sensorineural deafnessschwannomatosis
HGNC:20233UniProt:Q9Y2Z9
SEPTIN14Septin-14Candidate gene tested inTolerante
OUTRAS DOENÇAS (2)
gliosarcomagiant cell glioblastoma
HGNC:33280UniProt:Q6ZU15
KRASGTPase KRasCandidate gene tested inAltamente restrito
VIAS BIOLÓGICAS (2)
Signaling by moderate kinase activity BRAF mutantsRUNX3 regulates p14-ARF
MECANISMO DE DOENÇA

Leukemia, acute myelogenous

A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes.

EXPRESSÃO TECIDUAL(Ubíquo)
Nervo tibial
30.7 TPM
Cérebro - Hemisfério cerebelar
25.1 TPM
Esôfago - Muscular
22.2 TPM
Esôfago - Mucosa
21.6 TPM
Esôfago - Junção
20.2 TPM
OUTRAS DOENÇAS (20)
gastric canceracute myeloid leukemialinear nevus sebaceous syndromeNoonan syndrome 3
HGNC:6407UniProt:P01116
FGFR1Fibroblast growth factor receptor 1Candidate gene tested inAltamente restrito
VIAS BIOLÓGICAS (2)
Epithelial-Mesenchymal Transition (EMT) during gastrulationFormation of paraxial mesoderm
MECANISMO DE DOENÇA

Pfeiffer syndrome

A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3).

EXPRESSÃO TECIDUAL(Ubíquo)
Aorta
144.8 TPM
Ovário
142.9 TPM
Artéria tibial
134.1 TPM
Fallopian Tube
122.3 TPM
Cérebro - Hemisfério cerebelar
122.0 TPM
OUTRAS DOENÇAS (20)
Hartsfield-Bixler-Demyer syndromeencephalocraniocutaneous lipomatosisosteoglophonic dysplasiaPfeiffer syndrome
HGNC:3688UniProt:P11362
RAF1RAF proto-oncogene serine/threonine-protein kinaseCandidate gene tested inAltamente restrito
VIAS BIOLÓGICAS (5)
IFNG signaling activates MAPKsCD209 (DC-SIGN) signalingStimuli-sensing channelsGP1b-IX-V activation signallingRap1 signalling
MECANISMO DE DOENÇA

Noonan syndrome 5

A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells.

EXPRESSÃO TECIDUAL(Ubíquo)
Músculo esquelético
152.2 TPM
Artéria tibial
139.4 TPM
Cérebro - Hemisfério cerebelar
134.9 TPM
Sangue
131.1 TPM
Ovário
129.4 TPM
OUTRAS DOENÇAS (9)
Noonan syndrome 5LEOPARD syndrome 2dilated cardiomyopathy 1NNNoonan syndrome
HGNC:9829UniProt:P04049
QKIKH domain-containing RNA-binding protein QKICandidate gene tested inAltamente restrito
VIAS BIOLÓGICAS (1)
Signaling by BRAF and RAF1 fusions
EXPRESSÃO TECIDUAL(Ubíquo)
Brain Spinal cord cervical c-1
141.1 TPM
Nervo tibial
107.5 TPM
Substância negra
63.5 TPM
Cérebro - Amígdala
49.6 TPM
Hipocampo
48.3 TPM
OUTRAS DOENÇAS (1)
angiocentric glioma
HGNC:21100UniProt:Q96PU8
SH3PXD2ASH3 and PX domain-containing protein 2ACandidate gene tested inAltamente restrito
VIAS BIOLÓGICAS (2)
Invadopodia formationCDC42 GTPase cycle
EXPRESSÃO TECIDUAL(Ubíquo)
Cervix Ectocervix
133.9 TPM
Nervo tibial
122.7 TPM
Cervix Endocervix
116.5 TPM
Útero
90.9 TPM
Fibroblastos
75.5 TPM
OUTRAS DOENÇAS (2)
malignant triton tumormalignant perineurioma
HGNC:23664UniProt:Q5TCZ1
BRAFSerine/threonine-protein kinase B-rafCandidate gene tested inAltamente restrito
VIAS BIOLÓGICAS (4)
Spry regulation of FGF signalingParadoxical activation of RAF signaling by kinase inactive BRAFARMS-mediated activationSignalling to p38 via RIT and RIN
OUTRAS DOENÇAS (18)
Noonan syndrome 7LEOPARD syndrome 3melanoma, cutaneous malignant, susceptibility to, 1lung cancer
HGNC:1097UniProt:P15056
KIAA1549UPF0606 protein KIAA1549Candidate gene tested inRestrito
VIAS BIOLÓGICAS (1)
Signaling by BRAF and RAF1 fusions
MECANISMO DE DOENÇA

Retinitis pigmentosa 86

A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP86 is an autosomal recessive form.

EXPRESSÃO TECIDUAL(Baixa expressão)
Brain Frontal Cortex BA9
5.0 TPM
Córtex cerebral
4.9 TPM
Útero
3.9 TPM
Pituitária
3.6 TPM
Glândula salivar
3.5 TPM
OUTRAS DOENÇAS (3)
retinitis pigmentosa 86pilomyxoid astrocytomaretinitis pigmentosa
HGNC:22219UniProt:Q9HCM3
SRGAP3SLIT-ROBO Rho GTPase-activating protein 3Candidate gene tested inAltamente restrito
VIAS BIOLÓGICAS (3)
Inactivation of CDC42 and RAC1RAC1 GTPase cycleCDC42 GTPase cycle
EXPRESSÃO TECIDUAL(Ubíquo)
Cerebelo
54.4 TPM
Cérebro - Hemisfério cerebelar
50.9 TPM
Córtex cerebral
19.1 TPM
Brain Frontal Cortex BA9
18.9 TPM
Brain Anterior cingulate cortex BA24
11.8 TPM
OUTRAS DOENÇAS (1)
pilomyxoid astrocytoma
HGNC:19744UniProt:O43295
HTRA1Serine protease HTRA1Candidate gene tested inTolerante
VIAS BIOLÓGICAS (1)
Degradation of the extracellular matrix
EXPRESSÃO TECIDUAL(Ubíquo)
Aorta
810.7 TPM
Ovário
602.0 TPM
Cervix Ectocervix
551.9 TPM
Fibroblastos
518.4 TPM
Artéria tibial
426.1 TPM
OUTRAS DOENÇAS (5)
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2CARASIL syndromemalignant perineuriomaHTRA1-related autosomal dominant cerebral small vessel disease
HGNC:9476UniProt:Q92743
FGFR3Fibroblast growth factor receptor 3Candidate gene tested inAltamente restrito
VIAS BIOLÓGICAS (2)
Signaling by FGFR3 in diseaset(4;14) translocations of FGFR3
MECANISMO DE DOENÇA

Achondroplasia

A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. ACH is an autosomal dominant disease.

EXPRESSÃO TECIDUAL(Ubíquo)
Skin Not Sun Exposed Suprapubic
364.6 TPM
Skin Sun Exposed Lower leg
356.5 TPM
Esôfago - Mucosa
199.7 TPM
Brain Caudate basal ganglia
148.4 TPM
Brain Nucleus accumbens basal ganglia
135.4 TPM
OUTRAS DOENÇAS (19)
nevus, epidermalsevere achondroplasia-developmental delay-acanthosis nigricans syndromelacrimoauriculodentodigital syndrome 2testicular germ cell tumor
HGNC:3690UniProt:P22607
MGMTMethylated-DNA--protein-cysteine methyltransferaseCandidate gene tested inTolerante
VIAS BIOLÓGICAS (1)
MGMT-mediated DNA damage reversal
EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
38.0 TPM
Testículo
25.7 TPM
Tecido adiposo
25.1 TPM
Mama
24.2 TPM
Bladder
23.6 TPM
OUTRAS DOENÇAS (3)
gliosarcomafamilial melanomagiant cell glioblastoma
HGNC:7059UniProt:P16455
ZFTAZinc finger translocation-associated proteinCandidate gene tested inTolerante
OUTRAS DOENÇAS (2)
ependymomaRELA fusion-positive ependymoma
HGNC:28449UniProt:C9JLR9
POT1Protection of telomeres protein 1Candidate gene tested inTolerante
VIAS BIOLÓGICAS (10)
DNA Damage/Telomere Stress Induced SenescencePackaging Of Telomere EndsMeiotic synapsisInhibition of DNA recombination at telomereTelomere C-strand (Lagging Strand) Synthesis
MECANISMO DE DOENÇA

Tumor predisposition syndrome 3

An autosomal dominant disorder characterized by an increased risk for the development of various types of benign and malignant neoplasms throughout life, with age-dependent penetrance. Affected individuals can develop neoplasms involving epithelial, mesenchymal, and neuronal tissues, as well as lymphoid and myeloid cancers. The disorder is associated with elongated telomeres.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
22.7 TPM
Nervo tibial
15.9 TPM
Testículo
15.3 TPM
Cervix Ectocervix
13.7 TPM
Útero
13.5 TPM
OUTRAS DOENÇAS (7)
tumor predisposition syndrome 3pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8cerebroretinal microangiopathy with calcifications and cysts 3oligodendroglioma
HGNC:17284UniProt:Q9NUX5
MYBTranscriptional activator MybCandidate gene tested inAltamente restrito
VIAS BIOLÓGICAS (5)
RUNX1 regulates transcription of genes involved in differentiation of HSCsSpecification of the neural plate borderTranscriptional regulation of granulopoiesisFactors involved in megakaryocyte development and platelet productionEstrogen-dependent gene expression
EXPRESSÃO TECIDUAL(Tecido-específico)
Linfócitos
17.3 TPM
Cólon transverso
12.6 TPM
Intestino delgado
4.8 TPM
Mama
4.2 TPM
Skin Sun Exposed Lower leg
3.8 TPM
OUTRAS DOENÇAS (3)
angiocentric gliomaprecursor T-cell acute lymphoblastic leukemiaacute basophilic leukemia
HGNC:7545UniProt:P10242
NTRK2BDNF/NT-3 growth factors receptorCandidate gene tested inAltamente restrito
VIAS BIOLÓGICAS (4)
NTF4 activates NTRK2 (TRKB) signalingBDNF activates NTRK2 (TRKB) signalingNTF3 activates NTRK2 (TRKB) signalingActivated NTRK2 signals through FYN
MECANISMO DE DOENÇA

Developmental and epileptic encephalopathy 58

A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE58 is an autosomal dominant condition characterized by onset of refractory seizures in the first days or months of life.

EXPRESSÃO TECIDUAL(Ubíquo)
Brain Anterior cingulate cortex BA24
79.5 TPM
Brain Frontal Cortex BA9
75.0 TPM
Córtex cerebral
74.2 TPM
Brain Caudate basal ganglia
73.0 TPM
Cérebro - Amígdala
73.0 TPM
OUTRAS DOENÇAS (5)
developmental and epileptic encephalopathy, 58obesity, hyperphagia, and developmental delaypilomyxoid astrocytomaearly-onset obesity-hyperphagia-severe developmental delay syndrome
HGNC:8032UniProt:Q16620

Variantes genéticas (ClinVar)

150 variantes patogênicas registradas no ClinVar.

🧬 IDH2: GRCh38/hg38 15q26.1-26.3(chr15:90068508-101888837)x3 ()
🧬 IDH2: NM_002168.4(IDH2):c.800A>G (p.Gln267Arg) ()
🧬 IDH2: GRCh37/hg19 15q26.1-26.3(chr15:90569376-102369410)x1 ()
🧬 IDH2: NM_002168.4(IDH2):c.448G>C (p.Glu150Gln) ()
🧬 IDH2: NM_002168.4(IDH2):c.1081-60C>G ()
Ver todas no ClinVar

Vias biológicas (Reactome)

220 vias biológicas associadas aos genes desta condição.

Transcriptional activation of mitochondrial biogenesis Citric acid cycle (TCA cycle) Mitochondrial protein degradation Maturation of TCA enzymes and regulation of TCA cycle alectinib sensitve ALK mutants ceritinib-resistant ALK mutants ceritinib-resistant ALK mutants don't bind ceritinib ALK mutants bind type I TKIs Abnormal conversion of 2-oxoglutarate to 2-hydroxyglutarate NADPH regeneration Neutrophil degranulation Peroxisomal protein import NFE2L2 regulating TCA cycle genes Activation of NF-kappaB in B cells RIP-mediated NFkB activation via ZBP1 Regulated proteolysis of p75NTR Downstream TCR signaling NF-kB is activated and signals survival Senescence-Associated Secretory Phenotype (SASP) FCERI mediated NF-kB activation DEx/H-box helicases activate type I IFN and inflammatory cytokines production PKMTs methylate histone lysines Transcriptional regulation of white adipocyte differentiation TAK1-dependent IKK and NF-kappa-B activation Interleukin-1 processing SUMOylation of immune response proteins IkBA variant leads to EDA-ID Dectin-1 mediated noncanonical NF-kB signaling CLEC7A (Dectin-1) signaling CD209 (DC-SIGN) signaling CLEC7A/inflammasome pathway The NLRP3 inflammasome Transcriptional Regulation by VENTX Interleukin-1 signaling TRAF6 mediated NF-kB activation Purinergic signaling in leishmaniasis infection SARS-CoV-1 activates/modulates innate immune responses Regulation of NFE2L2 gene expression Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells Regulation of PD-L1(CD274) transcription Activation of NOXA and translocation to mitochondria Activation of PUMA and translocation to mitochondria Pre-NOTCH Transcription and Translation Oxidative Stress Induced Senescence Formation of Senescence-Associated Heterochromatin Foci (SAHF) Oncogene Induced Senescence DNA Damage/Telomere Stress Induced Senescence SUMOylation of transcription factors Autodegradation of the E3 ubiquitin ligase COP1 Association of TriC/CCT with target proteins during biosynthesis Pyroptosis TP53 Regulates Metabolic Genes Ub-specific processing proteases Ovarian tumor domain proteases Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Interleukin-4 and Interleukin-13 signaling TP53 Regulates Transcription of DNA Repair Genes TP53 Regulates Transcription of Genes Involved in Cytochrome C Release TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain TP53 Regulates Transcription of Caspase Activators and Caspases TP53 Regulates Transcription of Death Receptors and Ligands TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest Regulation of TP53 Expression Regulation of TP53 Activity through Phosphorylation Regulation of TP53 Degradation Regulation of TP53 Activity through Acetylation Regulation of TP53 Activity through Association with Co-factors Regulation of TP53 Activity through Methylation Signaling by plasma membrane FGFR1 fusions Regulation of actin dynamics for phagocytic cup formation RHO GTPases activate PAKs Signaling by ERBB2 Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants Signaling by ERBB4 SHC1 events in ERBB2 signaling PLCG1 events in ERBB2 signaling PIP3 activates AKT signaling Signaling by EGFR GRB2 events in EGFR signaling GAB1 signalosome SHC1 events in EGFR signaling EGFR downregulation GRB2 events in ERBB2 signaling PI3K events in ERBB2 signaling EGFR interacts with phospholipase C-gamma EGFR Transactivation by Gastrin Constitutive Signaling by Aberrant PI3K in Cancer Signal transduction by L1 Constitutive Signaling by EGFRvIII Inhibition of Signaling by Overexpressed EGFR RAF/MAP kinase cascade ERBB2 Regulates Cell Motility PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling ERBB2 Activates PTK6 Signaling Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis PTK6 promotes HIF1A stabilization Downregulation of ERBB2 signaling TFAP2 (AP-2) family regulates transcription of growth factors and their receptors Extra-nuclear estrogen signaling NOTCH3 Activation and Transmission of Signal to the Nucleus PPARA activates gene expression Nuclear Receptor transcription pathway SUMOylation of intracellular receptors Regulation of PTEN gene transcription MECP2 regulates transcription factors MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Transcriptional regulation of brown and beige adipocyte differentiation by EBF2 Negative regulation of NOTCH4 signaling Dengue virus modulates apoptosis RMTs methylate histone arginines RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known Regulation of MITF-M-dependent genes involved in pigmentation Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs) Formation of the canonical BAF (cBAF) complex Formation of the polybromo-BAF (pBAF) complex Formation of the embryonic stem cell BAF (esBAF) complex Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF) Ubiquinol biosynthesis SOS-mediated signalling Activation of RAS in B cells SHC1 events in ERBB4 signaling Signaling by SCF-KIT Signalling to RAS p38MAPK events Downstream signal transduction Tie2 Signaling DAP12 signaling SHC-related events triggered by IGF1R FCERI mediated MAPK activation NCAM signaling for neurite out-growth Ca2+ pathway Ras activation upon Ca2+ influx through NMDA receptor VEGFR2 mediated cell proliferation SHC-mediated cascade:FGFR1 FRS-mediated FGFR1 signaling SHC-mediated cascade:FGFR2 FRS-mediated FGFR2 signaling SHC-mediated cascade:FGFR3 FRS-mediated FGFR3 signaling FRS-mediated FGFR4 signaling PI3K Cascade Signaling by FGFR1 amplification mutants Signaling by activated point mutants of FGFR1 FGFR1b ligand binding and activation FGFR1c ligand binding and activation FGFR1c and Klotho ligand binding and activation Phospholipase C-mediated cascade: FGFR1 Downstream signaling of activated FGFR1 PI-3K cascade:FGFR1 Negative regulation of FGFR1 signaling Signaling by FGFR1 in disease Epithelial-Mesenchymal Transition (EMT) during gastrulation Formation of paraxial mesoderm Stimuli-sensing channels Rap1 signalling GP1b-IX-V activation signalling RAF activation MAP2K and MAPK activation Negative feedback regulation of MAPK pathway Negative regulation of MAPK pathway Signaling by moderate kinase activity BRAF mutants Signaling by high-kinase activity BRAF mutants Signaling by BRAF and RAF1 fusions Paradoxical activation of RAF signaling by kinase inactive BRAF Signaling downstream of RAS mutants Signaling by RAF1 mutants SHOC2 M1731 mutant abolishes MRAS complex function Gain-of-function MRAS complexes activate RAF signaling IFNG signaling activates MAPKs Invadopodia formation CDC42 GTPase cycle Spry regulation of FGF signaling Frs2-mediated activation ARMS-mediated activation Signalling to p38 via RIT and RIN Inactivation of CDC42 and RAC1 RAC1 GTPase cycle Degradation of the extracellular matrix Signaling by activated point mutants of FGFR3 FGFR3b ligand binding and activation FGFR3c ligand binding and activation t(4;14) translocations of FGFR3 Phospholipase C-mediated cascade; FGFR3 PI-3K cascade:FGFR3 Negative regulation of FGFR3 signaling Signaling by FGFR3 in disease Signaling by FGFR3 fusions in cancer MGMT-mediated DNA damage reversal Recognition and association of DNA glycosylase with site containing an affected pyrimidine Cleavage of the damaged pyrimidine Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine Meiotic synapsis Packaging Of Telomere Ends Telomere Extension By Telomerase Polymerase switching on the C-strand of the telomere Processive synthesis on the C-strand of the telomere Telomere C-strand (Lagging Strand) Synthesis Telomere C-strand synthesis initiation Removal of the Flap Intermediate from the C-strand Inhibition of DNA recombination at telomere RUNX1 regulates transcription of genes involved in differentiation of HSCs Estrogen-dependent gene expression Transcriptional regulation of granulopoiesis Factors involved in megakaryocyte development and platelet production Specification of the neural plate border NGF-independant TRKA activation BDNF activates NTRK2 (TRKB) signaling NTF3 activates NTRK2 (TRKB) signaling NTF4 activates NTRK2 (TRKB) signaling Activated NTRK2 signals through RAS Activated NTRK2 signals through PLCG1 Activated NTRK2 signals through PI3K Activated NTRK2 signals through FRS2 and FRS3 Activated NTRK2 signals through FYN NTRK2 activates RAC1 Activated NTRK2 signals through CDK5

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Publicações mais relevantes

📖Melhor nível de evidência: Revisão
Timeline de publicações
312 papers (10 anos)
#1

An Exploratory Application of a Central Nervous System (CNS) Tumor Methylation Classifier in Ovarian Neuroectodermal Tumors.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2026 Jan

Para tumores neuroectodérmicos raros do ovário, de difícil diagnóstico e tratamento, este estudo explorou a aplicação do perfil de metilação de DNA. Essa técnica permitiu classificar esses tumores em subtipos moleculares semelhantes aos do sistema nervoso central (SNC), oferecendo insights cruciais para um diagnóstico mais preciso, prognóstico (inclusive a identificação de subtipos com desfechos muito ruins) e a potencial aplicação de estratégias terapêuticas já utilizadas para tumores cerebrais.

🇧🇷 traduzido
#2

Innovative aptamer approaches in glial tumor diagnostics and therapy: Progress and future directions.

Molecular therapy. Nucleic acids2025 Dec 09

O diagnóstico e tratamento de tumores gliais, especialmente glioblastomas, são grandes desafios para médicos e pacientes devido à sua complexidade e à dificuldade de acesso a essas áreas cerebrais. Este artigo destaca os aptâmeros – moléculas com alta especificidade – como uma abordagem inovadora e promissora. Eles podem aprimorar o diagnóstico, tornando-o mais preciso e menos invasivo (via exames de imagem ou biópsia líquida), e melhorar a visualização do tumor durante cirurgias. Além disso, os aptâmeros permitem a entrega direcionada de medicamentos e terapias diretamente às células tumorais, visando maior eficácia e redução de efeitos colaterais, prometendo melhores resultados para os pacientes no futuro.

🇧🇷 traduzido
#3

Environmental Hazards and Glial Brain Tumors: Association or Causation?

International journal of molecular sciences2025 Aug 01

Este artigo destaca a importância crucial de identificar fatores de risco ambientais para tumores cerebrais gliais, como o glioblastoma, devido ao seu prognóstico grave e opções de tratamento limitadas. Além de causas estabelecidas como irradiação cerebral e síndromes genéticas, o uso de tabaco é considerado um fator provável, impactando não só o DNA mas também o microambiente tumoral. Compreender e verificar esses riscos é fundamental para que médicos e pacientes possam adotar medidas preventivas, melhorar o manejo clínico e fazer escolhas de estilo de vida que possam reduzir o risco de desenvolvimento ou progressão desses tumores.

🇧🇷 traduzido
#4

Glial Tumor Metastasizing to Bone Marrow: A Rare Journey.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion2025 Jul

Este artigo científico destaca que tumores gliais raramente se espalham para fora do sistema nervoso, sendo a metástase para a medula óssea algo excepcionalmente incomum. O estudo descreve um caso raro dessa ocorrência, oferecendo informações cruciais para médicos sobre como diagnosticar e compreender padrões incomuns de disseminação em tumores gliais. Isso é vital para que estejam cientes dessa possibilidade, embora rara, no manejo e acompanhamento de pacientes.

🇧🇷 traduzido
#5

Glioma mimicking a cystic infectious disease: A case report of multifocal, multicentric cystic glioblastoma.

Surgical neurology international2025

Este artigo relata um caso raro e desafiador de glioblastoma (GBM) que se apresentou de forma atípica, multifocal e multicística, mimetizando fortemente uma doença infecciosa cerebral, mesmo com testes repetidamente negativos para infecção. A complexidade do quadro levou a um diagnóstico inicial equivocado, com o tumor glial de alto grau sendo revelado apenas pela patologia definitiva. Este caso serve como um lembrete crucial para médicos e pacientes de que o GBM é um "grande mimetizador", capaz de ter múltiplas aparências, tornando o diagnóstico de lesões císticas cerebrais um desafio considerável.

🇧🇷 traduzido

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The correlation of fractional anisotropy parameters with Ki-67 index, and the clinical implication in grading of non-enhancing gliomas and neuronal-glial tumors.

Magnetic resonance imaging
2019

Demography, Pattern of Care, and Survival in Patients with Xanthoastrocytoma: A Systematic Review and Individual Patient Data Analysis of 325 Cases.

Journal of neurosciences in rural practice
2019

Tivantinib Hampers the Proliferation of Glioblastoma Cells via PI3K/Akt/Mammalian Target of Rapamycin (mTOR) Signaling.

Medical science monitor : international medical journal of experimental and clinical research
2019

Diagnostic value of fusion of metabolic and structural images for stereotactic biopsy of brain tumors without enhancement after contrast medium injection.

Neuro-Chirurgie
2020

Perinatal complex low- and high-grade glial tumor harboring a novel GIGYF2-ALK fusion.

Pediatric blood &amp; cancer
2019

A Novel Highly Selective Cannabinoid CB2 Agonist Reduces in vitro Growth and TGF-beta Release of Human Glial Cell Tumors.

Central nervous system agents in medicinal chemistry
2019

Evaluation of Diffusion Anisotropy and Diffusion Shape in Grading of Glial Tumors.

Journal of biomedical physics &amp; engineering

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Doença com base genética

Um médico geneticista pode ajudar no diagnóstico de Glioma e no aconselhamento genético da família.

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Conselhos e sociedades

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Perguntas frequentes

O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu

Respostas geradas por IA a partir das fontes citadas

É um tumor originado nas células gliais de suporte do cérebro ou da medula espinhal. Ele pode ser benigno ou maligno, dividindo-se em astrocitomas, oligodendrogliomas e ependimomas.

Referências

Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete

9 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.

  1. An Exploratory Application of a Central Nervous System (CNS) Tumor Methylation Classifier in Ovarian Neuroectodermal Tumors.
    Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2026PMID 41203136
  2. Glial Tumor Metastasizing to Bone Marrow: A Rare Journey.
    Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion2025PMID 40687464
  3. ORPHA:182067
    Orphanet
  4. GARD:6513
    GARD (NIH)
  5. Q1365309
    Wikidata

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Citar este verbete

Raras. (s.d.). Glioma. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/glioma

Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Glioma
Compêndio · Raras BR

Glioma

ORPHA:182067 · MONDO:0021042
Prevalência
1-5 / 10 000
Ensaios
400 ativos
Prevalência
26.0 (Europe)
MedGen
UMLS
C0017638
EuropePMC
Wikidata
Wikipedia
Papers 10a

📋 Origem dos dados

Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.

Doença rara (ontologia)
fonte: Orphanet
Identificador unificado
fonte: MONDO
Indexação biomédica
fonte: MeSH (NLM)
Dado público estruturado
fonte: Wikidata
Rara