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ORPHA:251679Disease
What it is
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 MN1 with various partners (the most common being BEND2 and CXXC5) and exhibits a specific astroblastoma, MN1-altered DNA methylation class.
Key facts
- Prevalence
- <1 / 1 000 000 (annual incidence, Europe)
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Inheritance
- Not applicable
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Gene
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.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
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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