Astroblastoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare central nervous system tumor characterized by a well circumscribed astrocytic neoplasm, typically arising peripherally in the frontal or parietal lobes. It usually presents in infants and young adults with symptoms of increased intracranial pressure, epileptic seizures, and/or neurological deficits. At the histomolecular level, it exhibits astroblastic perivascular pseudorosettes and positive immunostaining for GFAP and EMA. It carries fusion of <i>MN1</i> with various partners (the most common being <i>BEND2</i> and <i>CXXC5</i>) and exhibits a specific astroblastoma, MN1-altered DNA methylation class.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Astroblastoma | |
| fr | Astroblastome | |
| de | Astroblastom | |
| es | Astroblastoma | |
| it | Astroblastoma | |
| nl | Astroblastoom | |
| pt | Astroblastoma | |
| pl | Gwiaździak zarodkowy | |
| cs | Astroblastom | |
| uk | Астробластома | |
| zh | 星形母细胞瘤 | |
| tr | Astroblastoma |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C71.9 | NTBT | index | validated |
| ICD-11 | 2A00.4 | E | specific | validated |
| MONDO | 0016707 | E | validated | |
| UMLS | C0334587 | E | validated | |
| GARD | 10635 | E | validated | |
| MedDRA | 10079366 | 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:717268Circumscribed astrocytic glioma
rare neurological diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MN1 | Part of a fusion gene in | Assessed | HGNC:7180 | ENSG00000169184 | 156100 | 22q12.1 | MN1 proto-oncogene, transcriptional regulator | 31111274[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.02 / 100 000 | Europe | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
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/251679
- This record as JSON: /data/d/251679.json