ORPHA:178
Chordoma
Synonyms: Notochordal sarcoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adult
- Status
- active
Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chordoma | Notochordal sarcoma |
| fr | Chordome | |
| de | Chordom | Notochordales Sarkom |
| es | Cordoma | Sarcoma notocordal |
| it | Cordoma | Sarcoma notocordale |
| nl | Chordoom | Notochordaal sarcoom |
| pt | Cordoma | |
| pl | Struniak | Mięsak ze struny grzbietowej |
| cs | Chordom | Notochordální sarkom |
| uk | Хордома | Нотохордальна саркома |
| zh | 脊索瘤 | 脊索肉瘤 |
| tr | Kordoma | Notokordal sarkom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 215400 | E | validated | |
| ICD-10 | C80.9 | NTBT | attributed | validated |
| ICD-11 | 2B5J | NTBT | index | validated |
| MONDO | 0008978 | E | validated | |
| MeSH | D002817 | E | validated | |
| UMLS | C0008487 | E | validated | |
| GARD | 1303 | E | validated | |
| MedDRA | 10008747 | 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 (5):
- ORPHA:183527Genetic bone tumor
rare genetic diseases - ORPHA:271847Genetic neuroendocrine tumor
rare genetic diseases - ORPHA:100101Neuroendocrine tumor with other location
rare endocrine diseases; rare neoplastic diseases - ORPHA:95503Pituitary hormone deficiency of tumoral origin
rare endocrine diseases - ORPHA:68411Rare bone tumor
rare bone diseases; rare neoplastic diseases
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BRCA2 | Major susceptibility factor in | Assessed | HGNC:1101 | ENSG00000139618 | 600185 | 13q13.1 | BRCA2 DNA repair associated | 35762214[PMID] |
| PALB2 | Major susceptibility factor in | Assessed | HGNC:26144 | ENSG00000083093 | 610355 | 16p12.2 | partner and localizer of BRCA2 | 35762214[PMID] |
| TBXT | Major susceptibility factor in | Assessed | HGNC:11515 | ENSG00000164458 | 601397 | 6q27 | T-box transcription factor T | 19801981[PMID]_23064415[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.06 / 100 000 | United States | Value and class | Validated | 22300861[PMID]_ ORPHANET_[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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/178
- This record as JSON: /data/d/178.json