Medulloblastoma with extensive nodularity
Synonyms: MBEN
- Type
- Histopathological subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood, Infancy
- Status
- active
Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Medulloblastoma with extensive nodularity | MBEN |
| fr | Médulloblastome à nodularité extensive | = en |
| de | Medulloblastom mit extensiver Nodularität | MBEN · Neuroblastom, zerebelläres |
| es | Meduloblastoma con nodularidad extensa | = en |
| it | Medulloblastoma con nodularità diffusa | Neuroblastoma cerebrale |
| nl | Medulloblastoom met extensieve nodulariteit | = en |
| pt | Meduloblastoma com nodularidade extensa | = en |
| pl | Rdzeniak zarodkowy o zwiększonej guzkowatości | Nerwiak zarodkowy móżdżku |
| cs | Meduloblastom s extenzivní nodularitou | Cerebelární neuroblastom |
| uk | Медулобластома з великими вузликами | = en |
| zh | 成神经管细胞瘤伴广泛性结节 | = en |
| tr | Geniş nodülerite ile seyreden medulloblastom | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 155255 | NTBT | validated | |
| ICD-10 | C71.6 | NTBT | attributed | validated |
| ICD-11 | 2A00.10 | NTBT | index | validated |
| ICD-11 | XH6JN6 | E | specific | validated |
| MONDO | 0016710 | E | validated | |
| UMLS | C1334970 | 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:616Medulloblastoma
rare neurological diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SUFU | Major susceptibility factor in | Assessed | HGNC:16466 | ENSG00000107882 | 607035 | 10q24.32 | SUFU negative regulator of hedgehog signaling | 21188540[PMID]_22508808[PMID]_12068298[PMID]_19833601[PMID] |
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/251858
- This record as JSON: /data/d/251858.json