Medulloblastoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare embryonic tumor of the neuroepithelial tissue characterized clinically by increased intracranial pressure and cerebellar dysfunction, with the most common presenting symptoms being headache, vomiting, and ataxia. The disease can be classified according to histological (classic, anaplastic, large-cell, or desmoplatic medulloblastoma, or medulloblastoma with extensive nodularity) and molecular criteria (WNT-activated, sonic-hedgehog-activated, group 3, group 4).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Medulloblastoma | |
| fr | Médulloblastome | |
| de | Medulloblastom | |
| es | Meduloblastoma | |
| it | Medulloblastoma | |
| nl | Medulloblastoom | |
| pt | Meduloblastoma | Tumor neuro-ectodérmico primitivo |
| pl | Rdzeniak | |
| cs | Meduloblastom | |
| uk | Медулобластома | |
| zh | 髓母细胞瘤 | |
| tr | Medulloblastom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 155255 | E | validated | |
| ICD-10 | C71.6 | NTBT | index | validated |
| ICD-11 | 2A00.10 | E | specific | validated |
| MONDO | 0007959 | E | validated | |
| MeSH | D008527 | E | validated | |
| UMLS | C0025149 | E | validated | |
| GARD | 7005 | E | validated | |
| MedDRA | 10027107 | 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:251852Embryonal tumor of neuroepithelial tissue
rare neurological diseases; rare neoplastic diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| SUFU | ORPHA:251858Medulloblastoma with extensive nodularity | 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] |
| SUFU | ORPHA:251863Desmoplastic/nodular medulloblastoma | 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
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.11 / 100 000 | Europe | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2010[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.74 / 100 000 | United States | Value and class | Validated | Central Brain Tumor OTHERistry of the United States 2004-2007[OTHER] |
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
34 annotations · validated 2017-07-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002885 | Medulloblastoma | |
| Frequent (79-30%) | ||
| HP:0012658 | Abnormal brain FDG positron emission tomography | |
| HP:0001291 | Abnormal cranial nerve morphology | |
| HP:0001251 | Ataxia | Diagnostic criterion |
| HP:0009878 | Cerebellar ataxia associated with quadrupedal gait | |
| HP:0007129 | Cerebellar medulloblastoma | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0001310 | Dysmetria | |
| HP:0002315 | Headache | Diagnostic criterion |
| HP:0002516 | Increased intracranial pressure | |
| HP:0002080 | Intention tremor | |
| HP:0001254 | Lethargy | |
| HP:0002017 | Nausea and vomiting | Diagnostic criterion |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0004481 | Progressive macrocephaly | |
| Occasional (29-5%) | ||
| HP:0005561 | Abnormality of bone marrow cell morphology | |
| HP:0005227 | Adenomatous colonic polyposis | |
| HP:0003418 | Back pain | |
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0007352 | Cerebellar calcifications | |
| HP:0002350 | Cerebellar cyst | |
| HP:0011695 | Cerebellar hemorrhage | |
| HP:0100543 | Cognitive impairment | |
| HP:0000651 | Diplopia | |
| HP:0001263 | Global developmental delay | |
| HP:0000238 | Hydrocephalus | |
| HP:0000737 | Irritability | |
| HP:0000529 | Progressive visual loss | |
| HP:0010302 | Spinal cord tumor | |
| HP:0007824 | Total ophthalmoplegia | |
| HP:0002321 | Vertigo | |
| Very rare (<4-1%) | ||
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0100526 | Neoplasm of the lung | |
| HP:0003006 | Neuroblastoma | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 18031705[PMID]_1599290[PMID]_7661930[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/616
- This record as JSON: /data/d/616.json