ORPHA:99966
Atypical teratoid rhabdoid tumor
Synonyms: ATRT
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A rare, highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Atypical teratoid rhabdoid tumor | ATRT |
| fr | Tumeur rhabdoïde tératoïde atypique | = en |
| de | Tumor, atypischer teratoider | = en |
| es | Tumor teratoideo rabdoide atípico | = en |
| it | Tumore rabdoide teratoide atipico | = en |
| nl | Atypische teratoïde rhabdoïde tumor | = en |
| pt | Tumor teratóide, atípico | |
| pl | Atypowy guz teratoidny rabdoidny | = en |
| cs | Atypický teratoidní rhabdoidní nádor | = en |
| uk | Атипова тератоїдна рабдоїдна пухлина | = en |
| zh | 非典型畸胎样/横纹肌样瘤 | = en |
| tr | Atipik teratoid rabdoid tümör | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609322 | NTBT | validated | |
| ICD-10 | C49.9 | NTBT | attributed | validated |
| ICD-11 | 2A00.1Y | NTBT | index | validated |
| MONDO | 0020560 | E | validated | |
| UMLS | C1266184 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:251852Embryonal tumor of neuroepithelial tissue
rare neurological diseases; rare neoplastic diseases - ORPHA:3394Soft tissue sarcoma
rare neoplastic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:251891OBSOLETE: Atypical teratoid/rhabdoid tumor referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SMARCB1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:11103 | ENSG00000099956 | 601607 | 22q11.23 | SWI/SNF related BAF chromatin remodeling complex subunit B1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 20737418[PMID]_19707161[PMID]_22988546[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.38 / 100 000 | Austria | Value and class | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000741 | Apathy | |
| HP:0000737 | Irritability | |
| HP:0100836 | Malignant neoplasm of the central nervous system | |
| HP:0002017 | Nausea and vomiting | |
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0000238 | Hydrocephalus | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000256 | Macrocephaly | |
| HP:0002076 | Migraine | |
| HP:0001324 | Muscle weakness | |
| HP:0004372 | Reduced consciousness | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0002514 | Cerebral calcification | |
| HP:0100021 | Cerebral palsy | |
| HP:0006824 | Cranial nerve paralysis | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99966
- This record as JSON: /data/d/99966.json