Embryonal tumor with multilayered rosettes
Synonyms: ETMR
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Status
- active
A rare central nervous system embryonal tumor characterized by embryonal cells arranged in multilayered rosettes and displaying one of three morphological patterns: embryonal tumor with abundant neuropil and true rosettes, ependymoblastoma, or medulloepithelioma. The tumors typically have a C19MC alteration or (rarely) a <i>DICER1</i> mutation and correspond to WHO grade IV. They are mostly localized intracranially, rarely in the spinal cord, and commonly cause signs and symptoms of elevated intracranial pressure, sometimes seizures and focal neurological signs. Most cases occur in children during the first two years of life.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Embryonal tumor with multilayered rosettes | ETMR |
| fr | Tumeur embryonnaire avec rosettes pluristratifiées | ETMR · Tumeur embryonnaire avec rosettes multicouches |
| de | Embryonaler Tumor mit mehrschichtigen Rosetten | = en |
| es | Tumor embrionario con rosetas de capas múltiples | = en |
| it | Tumore embrionale con rosette multistrato | TERM |
| nl | Embryonale tumor met meerlagige rozetten | = en |
| pt | Tumor embrionário com rosetas multicamadas | = en |
| pl | Guz zarodkowy z wielowarstwowymi rozetami | = en |
| cs | Embryonální tumor s vícevrstevnatými rozetami | = en |
| uk | Ембріональна пухлина з багатошаровими розетками | ЕТМР |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C71.9 | NTBT | attributed | validated |
| ICD-11 | XH0KZ2 | E | specific | validated |
| MONDO | 0958119 | E | validated | |
| MONDO | 958119 | E | validated | |
| UMLS | C5575350 | 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:251870Central nervous system embryonal tumor
rare neurological diseases; rare neoplastic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:251880Ependymoblastoma moved to · inactive
- ORPHA:251883Medulloepithelioma of the central nervous system moved to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/656417
- This record as JSON: /data/d/656417.json