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Start free with EleplanRELA fusion-positive ependymoma
ORPHA:530792Disease
Also called Supratentorial C11ORF95-RELA fused ependymoma
What it is
A rare ependymal tumor characterized by the presence of a RELA fusion gene. This supratentorial grade II or III ependymoma most often occurs in children and young adults. Histopathological features are variable, but a distinctive vascular pattern of branching capillaries or clear-cell change are common. Patients may present with focal neurological deficits, seizures, or features of raised intracranial pressure. Prognosis is worse than in other supratentorial ependymomas.
Key facts
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Inheritance
- Not applicable
- Classified as
- Disease
Recorded for the broader condition
- Prevalence
- 1-9 / 100 000 (Europe)Ependymal tumor
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Genes
ICD-10 codes
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
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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