ORPHA:251615
Pilomyxoid astrocytoma
- Type
- Histopathological subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pilomyxoid astrocytoma | |
| fr | Astrocytome pilomyxoïde | |
| de | Astrozytom, pilomyxoides | |
| es | Astrocitoma pilomixoide | |
| it | Astrocitoma pilomixoide | |
| nl | Pilomyxoid astrocytoom | |
| pt | Astrocitoma pilomixóide | |
| pl | Gwiaździak włosowatośluzakowaty | |
| cs | Pilomyxoidní astrocytom | |
| uk | Піломіксоїдна астроцитома | |
| zh | 毛细胞粘液样星形细胞瘤 | |
| tr | Pilomiksoid astrositom |
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 | index | validated |
| ICD-11 | XH29Q5 | E | specific | validated |
| MONDO | 0016692 | E | validated | |
| UMLS | C1519086 | E | 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:251612Pilocytic astrocytoma
rare neurological diseases; rare neoplastic diseases
No children.
4
Genes
8 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BRAF | Disease-causing somatic mutation(s) in | Assessed | HGNC:1097 | ENSG00000157764 | 164757 | 7q34 | B-Raf proto-oncogene, serine/threonine kinase | 22159586[PMID]_21190184[PMID] |
| FGFR1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:3688 | ENSG00000077782 | 136350 | 8p11.23 | fibroblast growth factor receptor 1 | 23817572[PMID] |
| KRAS | Disease-causing somatic mutation(s) in | Assessed | HGNC:6407 | ENSG00000133703 | 190070 | 12p12.1 | KRAS proto-oncogene, GTPase | 22159586[PMID]_21424530[PMID]_19373855[PMID] |
| BRAF | Part of a fusion gene in | Assessed | HGNC:1097 | ENSG00000157764 | 164757 | 7q34 | B-Raf proto-oncogene, serine/threonine kinase | 22159586[PMID]_18974108[PMID] |
| KIAA1549 | Part of a fusion gene in | Assessed | HGNC:22219 | ENSG00000122778 | 613344 | 7q34 | KIAA1549 | 22159586[PMID]_18974108[PMID] |
| NTRK2 | Part of a fusion gene in | Assessed | HGNC:8032 | ENSG00000148053 | 600456 | 9q21.33 | neurotrophic receptor tyrosine kinase 2 | 23817572[PMID] |
| RAF1 | Part of a fusion gene in | Assessed | HGNC:9829 | ENSG00000132155 | 164760 | 3p25.2 | Raf-1 proto-oncogene, serine/threonine kinase | 22159586[PMID]_19363522[PMID] |
| SRGAP3 | Part of a fusion gene in | Assessed | HGNC:19744 | ENSG00000196220 | 606525 | 3p25.3 | SLIT-ROBO Rho GTPase activating protein 3 | 22159586[PMID]_19363522[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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/251615
- This record as JSON: /data/d/251615.json