Angiocentric glioma
- Type
- Disease
- Group
- Disorder
- Age of onset
- All ages
- Status
- active
A rare diffuse glial neoplasm of the central nervous system characterized by a slowly progressing, grade 1 tumor usually arising in the cerebral cortex and/or brainstem, with tumor cells focally organized around the blood vessels in a distinctive pattern. Angiocentric glioma typically affects young patients and is clinically characterized by refractory seizures and headaches. Nearly all angiocentric gliomas exhibit <i>MYB</i> alterations (most commonly <i>MYB::QKI</i> fusion). Most cases are cured by surgical resection alone and the prognosis is usually favorable.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Angiocentric glioma | |
| fr | Gliome angiocentrique | |
| de | Gliom, angiozentrisches | |
| es | Glioma angiocéntrico | |
| it | Glioma angiocentrico | |
| nl | Angiocentrisch glioom | |
| pt | Glioma angiocêntrico | |
| pl | Glejak angiocentryczny | |
| cs | Angiocentrický gliom | |
| uk | Ангіоцентрична гліома | |
| zh | 血管中心性胶质瘤 | |
| tr | Anjiyosentrik gliom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C71.9 | NTBT | attributed | validated |
| ICD-11 | 2A00.0Y | NTBT | index | validated |
| MONDO | 0016705 | E | validated | |
| UMLS | C2363903 | E | validated | |
| MedDRA | 10073129 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:251668Glial tumor of neuroepithelial tissue with unknown origin
rare neurological diseases; rare neoplastic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYB | Part of a fusion gene in | Assessed | HGNC:7545 | ENSG00000118513 | 189990 | 6q23.3 | MYB proto-oncogene, transcription factor | 26829751[PMID] |
| QKI | Part of a fusion gene in | Assessed | HGNC:21100 | ENSG00000112531 | 609590 | 6q26 | QKI, KH domain containing RNA binding | 26829751[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 52 cases | Worldwide | Case(s) | Validated | 24348765[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 24348765[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251671
- This record as JSON: /data/d/251671.json