Subependymal giant cell astrocytoma

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Subependymal giant cell astrocytoma

ORPHA:251618Disease

Also called SEGA

What it is

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.

Key facts

Classified as
Disease

ICD-10 codes

D43.2filed under a broader ICD-10 category — shared with 3 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Cross-references

GARD 10632MONDO 0016693UMLS C0205768

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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