Subependymoma

Summary

Subependymoma (MONDO:0007667) is a disease. A subtype of low grade ependymoma — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Europe) [Orphanet-validated]
• Phenotypes (HPO): 15

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	<1 / 1 000 000		Europe	Validated

Signs & symptoms

Clinical features (HPO)

15 HPO clinical features (Orphanet curated; top 15 by frequency):

HPO ID	Term	Frequency
HP:0002888	Ependymoma	Obligate (100%)
HP:0002076	Migraine	Frequent (30-79%)
HP:0012531	Pain	Frequent (30-79%)
HP:0025461	Abnormal cell morphology	Frequent (30-79%)
HP:0001250	Seizure	Occasional (5-29%)
HP:0001288	Gait disturbance	Occasional (5-29%)
HP:0002013	Vomiting	Occasional (5-29%)
HP:0002460	Distal muscle weakness	Occasional (5-29%)
HP:0010302	Spinal cord tumor	Occasional (5-29%)
HP:0012534	Dysesthesia	Occasional (5-29%)
HP:0030693	Supratentorial neoplasm	Occasional (5-29%)
HP:0002896	Neoplasm of the liver	Very rare (<1-4%)
HP:0100013	Neoplasm of the breast	Very rare (<1-4%)
HP:0100526	Neoplasm of the lung	Very rare (<1-4%)
HP:0100615	Ovarian neoplasm	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	subependymoma
Mondo ID	MONDO:0007667
EFO	EFO:1000553
MeSH	D018315
Orphanet	251639
DOID	DOID:4843
NCIT	C3795
UMLS	C0206725
MedGen	64637
GARD	0010070
Is cancer (heuristic)	no

Also known as: subependymal astrocytoma · subependymal astrocytoma (formerly) · subependymal glioma · subependymoma · SUBEPENDYMOMA, benign · WHO grade I ependymal neoplasm · WHO grade I ependymal tumor · WHO grade I ependymal tumour

Disease family

This is a subtype of low grade ependymoma. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › nervous system neoplasm › neuroepithelial neoplasm › glioma › ependymal tumor › ependymoma › low grade ependymoma › subependymoma

Subtypes (1): subependymal giant cell astrocytoma

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.