Ependymoma
Synonyms: Classic ependymoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
Ependymoma is the most frequent intramedullary tumor in adults (but accounts for only 10-12% of pediatric central nervous system tumors), and can be benign or anaplastic. Ependymoma arise from the ependymal cells of the cerebral ventricles, corticle rests and central canal of the spinal cord, and manifest with variable symptoms such headache, vomiting, seizures, focal neurological signs and loss of vision and can cause obstructive hydrocephalus in some cases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ependymoma | Classic ependymoma |
| fr | Ependymome | Ependymome classique |
| de | Ependymom | Klassisches Ependymom |
| es | Ependimoma | Ependimoma clásico |
| it | Ependimoma | |
| nl | Ependymoom | Klassiek ependymoom |
| pt | Ependimona | |
| pl | Wyściółczak | = en |
| cs | Ependymom | = en |
| uk | Епендимома | Класична епендимома |
| zh | 室管膜瘤 | 经典型室管膜瘤 |
| tr | Ependimom | Klasik ependimom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D43.2 | NTBT | attributed | validated |
| ICD-11 | 2A00.0Y | NTBT | attributed | validated |
| MONDO | 0016698 | E | validated | |
| MeSH | D004806 | E | validated | |
| UMLS | C0014474 | E | validated | |
| GARD | 6353 | E | validated | |
| MedDRA | 10014967 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:301Ependymal tumor
rare neurological diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ZFTA | Part of a fusion gene in | Assessed | HGNC:28449 | ENSG00000188070 | 615699 | 11q13.1 | zinc finger translocation associated | 24553141[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.16 / 100 000 | Europe | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Point prevalence | Unknown | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
15 annotations · validated 2019-02-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002888 | Ependymoma | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0025461 | Abnormal cell morphology | |
| HP:0002076 | Migraine | |
| HP:0012531 | Pain | |
| Occasional (29-5%) | ||
| HP:0002460 | Distal muscle weakness | |
| HP:0012534 | Dysesthesia | |
| HP:0001288 | Gait disturbance | |
| HP:0001250 | Seizure | |
| HP:0010302 | Spinal cord tumor | |
| HP:0030693 | Supratentorial neoplasm | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0100013 | Neoplasm of the breast | |
| HP:0002896 | Neoplasm of the liver | |
| HP:0100526 | Neoplasm of the lung | |
| HP:0100615 | Ovarian neoplasm | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 29054328[PMID]_29309981[PMID]_30102193[PMID]_24615997[PMID]_25957762[PMID]_28895660[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251636
- This record as JSON: /data/d/251636.json