ORPHA:251598
Protoplasmic astrocytoma
- Type
- Histopathological subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Protoplasmic astrocytoma | |
| fr | Astrocytome protoplasmique | |
| de | Astrozytom, protoplasmisches | |
| es | Astrocitoma protoplásmico | |
| it | Astrocitoma protoplasmatico | |
| nl | Protoplasmisch astrocytoom | |
| pt | Astrocitoma protoplásmico | |
| pl | Gwiaździak protoplazmatyczny | |
| cs | Protoplazmatický astrocytom | |
| uk | Протоплазматична астроцитома | |
| zh | 原浆型星形细胞瘤 | |
| tr | Protoplazmik astrositom |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C71.9 | NTBT | index | validated |
| ICD-11 | 2A00.0Y | NTBT | index | validated |
| ICD-11 | XH6UV4 | E | specific | validated |
| MONDO | 0016687 | E | validated | |
| UMLS | C0334580 | 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:251595Astrocytoma grade 2
rare neurological diseases; rare neoplastic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IDH2 | Biomarker tested in | Assessed | HGNC:5383 | ENSG00000182054 | 147650 | 15q26.1 | isocitrate dehydrogenase (NADP(+)) 2 | 19228619[PMID]_19554337[PMID]_23109653[PMID]_24149775[PMID]_20714900[PMID]_21075857[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.01 / 100 000 | Europe | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
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/251598
- This record as JSON: /data/d/251598.json