ORPHA:726004
Astrocytoma grade 4
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Astrocytoma grade 4 | |
| fr | Astrocytome de grade 4 | |
| de | Astrozytom Grad 4 | |
| es | Astrocitoma grado 4 | |
| it | Astrocitoma di grado 4 | |
| nl | Astrocytoom graad 4 | |
| pt | Astrocytoma grade 4 | |
| pl | Astrocytoma grade 4 | |
| cs | Astrocytoma grade 4 |
2
Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:251561High-grade astrocytoma
rare neurological diseases; rare neoplastic diseases
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATRX | Disease-causing somatic mutation(s) in | Assessed | HGNC:886 | ENSG00000085224 | 300032 | Xq21.1 | ATRX chromatin remodeler | 35047821[PMID] |
| IDH1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:5382 | ENSG00000138413 | 147700 | 2q34 | isocitrate dehydrogenase (NADP(+)) 1 | 37667984[PMID]_33177376[PMID]_31996992[PMID] |
| IDH2 | Disease-causing somatic mutation(s) in | Assessed | HGNC:5383 | ENSG00000182054 | 147650 | 15q26.1 | isocitrate dehydrogenase (NADP(+)) 2 | 33177376[PMID] |
| TP53 | Disease-causing somatic mutation(s) in | Assessed | HGNC:11998 | ENSG00000141510 | 191170 | 17p13.1 | tumor protein p53 | 37667984[PMID]_33177376[PMID]_31996992[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 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/726004
- This record as JSON: /data/d/726004.json