Subependymal giant cell astrocytoma
Synonyms: SEGA
- Type
- Disease
- Group
- Disorder
- Status
- active
A rare astrocytoma characterized by a benign, slowly growing lesion that typically arises in the walls of the lateral ventricles, and most commonly occurs in patients < 20 years with tuberous sclerosis complex. Most patients present with worsening epilepsy or symptoms of increased intracranial pressure. This WHO grade 1 tumor is composed of astrocytes with various phenotypes (i.e. polygonal, gemistocytic, spindle, and ganglionic-like). On immunohistochemistry, it is usually positive for GFAP, S100, beta-tubulin, neurofilament, synaptophysin, NeuN, TTF1, and phosphorylated S6 but shows weak or negative staining for tuberin, hamartin, and Ki-67. It has its specific DNA methylation profile.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Subependymal giant cell astrocytoma | SEGA |
| fr | Astrocytome sous-épendymaire à cellules géantes | = en |
| de | Riesenzellastrozytom, subependymales | = en |
| es | Astrocitoma subependimario de células gigantes | = en |
| it | Astrocitoma subependimale a cellule giganti | = en |
| nl | Subependymaal reuscelastrocytoom | = en |
| pt | Astrocitoma subependimário de células gigantes | = en |
| pl | Gwiaździak podwyściółkowy olbrzymiokomórkowy | = en |
| cs | Subependymální velkobuněčný astrocytom | = en |
| uk | Субепендимальна гігантоклітинна астроцитома | = en |
| zh | 室管膜下巨细胞星形细胞瘤 | = en |
| tr | Subepandimal dev hücreli astrositom | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D43.2 | NTBT | index | validated |
| ICD-11 | 2A00.0Y | NTBT | index | validated |
| ICD-11 | XH1L48 | E | specific | validated |
| MONDO | 0016693 | E | validated | |
| UMLS | C0205768 | E | validated | |
| GARD | 10632 | 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
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251618
- This record as JSON: /data/d/251618.json