RELA fusion-positive ependymoma
Synonyms: Supratentorial C11ORF95-RELA fused ependymoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare ependymal tumor characterized by the presence of a <i>RELA</i> fusion gene. This supratentorial grade II or III ependymoma most often occurs in children and young adults. Histopathological features are variable, but a distinctive vascular pattern of branching capillaries or clear-cell change are common. Patients may present with focal neurological deficits, seizures, or features of raised intracranial pressure. Prognosis is worse than in other supratentorial ependymomas.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | RELA fusion-positive ependymoma | Supratentorial C11ORF95-RELA fused ependymoma |
| fr | Ependymome avec fusion RELA | Ependymome supratentoriel avec fusion C11ORF95-RELA |
| de | RELA-Fusion-positives Ependymom | Supratentorielles Ependymom mit C11ORF95-RELA-Fusion · Supratentorielles Ependymom mit ZFTA-Fusion |
| es | Ependimoma con fusión positiva del gen RELA | Ependimoma supratentorial con C11ORF95-RELA fusionados |
| it | Ependimoma positivo per la fusione del gene RELA | |
| nl | RELA-fusie-positief ependymoom | Supratentorieel C11ORF95-RELA-gefuseerd ependymoom |
| pt | Ependimoma RELA fusão-positivo | |
| pl | Wyściółczak dodatni pod względem fuzji RELA | = en |
| cs | RELA fúzně pozitivní ependymom | Supratentoriální C11ORF95-RELA fúzovaný ependymom |
| uk | Епендимома, позитивна по злитому RELA | Супратенторіальна злита епендимома C11ORF95-RELA |
| zh | RELA基因融合阳性室管膜瘤 | 幕上C11ORF95-RELA基因融合性室管膜瘤 |
| tr | RELA füzyon pozitif ependimom | Supratentoryal C11ORF95-RELA ile kaynaşmış epandimom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D43.0 | NTBT | attributed | validated |
| ICD-11 | 2A00.0Y | NTBT | attributed | validated |
| ICD-11 | XH2AY7 | E | specific | validated |
| MONDO | 0033980 | E | validated | |
| UMLS | C4289581 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RELA | Part of a fusion gene in | Assessed | HGNC:9955 | ENSG00000173039 | 164014 | 11q13.1 | RELA proto-oncogene, NF-kB subunit | 28895660[PMID] |
| ZFTA | Part of a fusion gene in | Assessed | HGNC:28449 | ENSG00000188070 | 615699 | 11q13.1 | zinc finger translocation associated | 28895660[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/530792
- This record as JSON: /data/d/530792.json