ORPHA:715694
Infant-type hemispheric glioma NTRK-altered
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infant-type hemispheric glioma NTRK-altered | |
| fr | Gliome hémisphérique infantile NTRK-altéré | |
| de | Hemisphärisches Gliom vom infantilen Typ mit NTRK-Alteration | |
| es | Glioma hemisférico de tipo infantil con alteración de NTRK | |
| it | Glioma emisferico tipo infantile con alterazione di NTRK | |
| nl | Infantiel hemisferisch glioom NTRK-gewijzigd | |
| pt | Infant-type hemispheric glioma NTRK-altered | |
| pl | Glejak półkulisty typu niemowlęcego ze zmianą NTRK | |
| cs | Infant-type hemispheric glioma NTRK-altered |
2
Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:695136Infant-type hemispheric glioma
rare neurological diseases; rare neoplastic diseases
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NTRK1 | Part of a fusion gene in | Assessed | HGNC:8031 | ENSG00000198400 | 191315 | 1q23.1 | neurotrophic receptor tyrosine kinase 1 | 36601394[PMID]_31554817[PMID]_35034013[PMID] |
| NTRK2 | Part of a fusion gene in | Assessed | HGNC:8032 | ENSG00000148053 | 600456 | 9q21.33 | neurotrophic receptor tyrosine kinase 2 | 36601394[PMID]_31554817[PMID]_35034013[PMID] |
| NTRK3 | Part of a fusion gene in | Assessed | HGNC:8033 | ENSG00000140538 | 191316 | 15q25.3 | neurotrophic receptor tyrosine kinase 3 | 36601394[PMID]_31554817[PMID]_35034013[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/715694
- This record as JSON: /data/d/715694.json