Myxopapillary ependymoma
diseaseOn this page
Also known as ependymoma, benignmyxopapillary ependymoma (morphologic abnormality)
Summary
Myxopapillary ependymoma (MONDO:0016699) is a disease. A subtype of ependymal tumor — 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): 12
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)
12 HPO clinical features (Orphanet curated; top 12 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002888 | Ependymoma | Obligate (100%) |
| HP:0031938 | Abnormal conus terminalis morphology | Very frequent (80-99%) |
| HP:0100006 | Neoplasm of the central nervous system | Frequent (30-79%) |
| HP:0002013 | Vomiting | Frequent (30-79%) |
| HP:0002315 | Headache | Frequent (30-79%) |
| HP:0002317 | Unsteady gait | Frequent (30-79%) |
| HP:0005341 | Autonomic bladder dysfunction | Frequent (30-79%) |
| HP:0012700 | Abnormal large intestine physiology | Frequent (30-79%) |
| HP:0030833 | Neck pain | Frequent (30-79%) |
| HP:0005107 | Abnormal sacrum morphology | Occasional (5-29%) |
| HP:0008069 | Neoplasm of the skin | Occasional (5-29%) |
| HP:0000372 | Abnormality of the auditory canal | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | myxopapillary ependymoma |
| Mondo ID | MONDO:0016699 |
| Orphanet | 251643 |
| DOID | DOID:5075 |
| NCIT | C3697 |
| UMLS | C0205769 |
| MedGen | 104717 |
| GARD | 0010633 |
| Is cancer (heuristic) | no |
Also known as: ependymoma, benign · myxopapillary ependymoma · myxopapillary ependymoma (morphologic abnormality)
Disease family
This is a subtype of ependymal tumor. 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 › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › nervous system neoplasm › neuroepithelial neoplasm › glioma › ependymal tumor › myxopapillary ependymoma
Related subtypes (5): ependymal tumor of brain, ependymoma, anaplastic ependymoma, ependymal tumor of spinal cord, RELA fusion-positive ependymoma
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.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.