ORPHA:715721
High-grade astrocytoma with piloid features
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | High-grade astrocytoma with piloid features | |
| fr | Astrocytome de haut grade avec aspects piloïdes | |
| de | Hochgradiges Astrozytom mit piloiden Merkmalen | |
| es | Astrocitoma de alto grado con características piloides | |
| it | Astrocitoma di alto grado con caratteristiche piloidi | |
| nl | Hooggradig astrocytoom met piloïde kenmerken | |
| pt | High-grade astrocytoma with piloid features | |
| pl | Gwiaździak o wysokim stopniu złośliwości z cechami piloidalnymi | |
| cs | High-grade astrocytoma with piloid features |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C71.9 | NTBT | attributed | validated |
| ICD-11 | 2A00.0Y | NTBT | attributed | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:717268Circumscribed astrocytic glioma
rare neurological diseases; rare neoplastic diseases
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATRX | Biomarker tested in | Assessed | HGNC:886 | ENSG00000085224 | 300032 | Xq21.1 | ATRX chromatin remodeler | 39848278[PMID] |
| CDKN2A | Biomarker tested in | Assessed | HGNC:1787 | ENSG00000147889 | 600160 | 9p21.3 | cyclin dependent kinase inhibitor 2A | 39848278[PMID] |
| CDKN2B | Biomarker tested in | Assessed | HGNC:1788 | ENSG00000147883 | 600431 | 9p21.3 | cyclin dependent kinase inhibitor 2B | 29564591[PMID] |
| NF1 | Biomarker tested in | Assessed | HGNC:7765 | ENSG00000196712 | 613113 | 17q11.2 | neurofibromin 1 | 39848278[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 144 cases | Worldwide | Case(s) | Validated | 36271929[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 36271929[PMID]_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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/715721
- This record as JSON: /data/d/715721.json