Myxopapillary ependymoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, All ages, Childhood
- Status
- active
Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Myxopapillary ependymoma | |
| fr | Ependymome myxopapillaire | |
| de | Ependymom, myxopapilläres | |
| es | Ependimoma mixopapilar | |
| it | Ependimoma mixopapillare | |
| nl | Myxopapillair ependymoom | |
| pt | Ependimona mixopapilar | |
| pl | Wyściółczak śluzakowobrodawczakowaty | |
| cs | Myxopapilární ependymom | |
| uk | Міксопапілярна епендимома | |
| zh | 黏液乳头状室管膜瘤 | |
| tr | Miksopapiller ependimom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D43.2 | NTBT | index | validated |
| ICD-11 | 2A00.0Y | NTBT | index | validated |
| ICD-11 | 2A00.5 | NTBT | index | validated |
| ICD-11 | XH15U1 | E | specific | validated |
| MONDO | 0016699 | E | validated | |
| UMLS | C0205769 | E | validated | |
| GARD | 10633 | 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
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | — | Europe | Class only | 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
12 annotations · validated 2019-03-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002888 | Ependymoma | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0031938 | Abnormal conus terminalis morphology | |
| Frequent (79-30%) | ||
| HP:0012700 | Abnormal large intestine physiology | |
| HP:0005341 | Autonomic bladder dysfunction | |
| HP:0002315 | Headache | |
| HP:0030833 | Neck pain | |
| HP:0100006 | Neoplasm of the central nervous system | |
| HP:0002317 | Unsteady gait | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0005107 | Abnormal sacrum morphology | |
| HP:0008069 | Neoplasm of the skin | |
| Very rare (<4-1%) | ||
| HP:0000372 | Abnormality of the auditory canal | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 16206735[PMID]_6695856[PMID]_18357830[PMID]_29054328[PMID]_6895163[PMID]_29309981[PMID]_30102193[PMID]_24615997[PMID]_25957762[PMID]_28895660[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251643
- This record as JSON: /data/d/251643.json