ORPHA:715950
Diffuse hemispheric glioma-H3 G34-mutant
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Diffuse hemispheric glioma-H3 G34-mutant | |
| fr | Gliome diffus hémisphérique H3 G34-muté | |
| de | Diffuses hemisphärisches Gliom, H3 G34-Mutante | |
| es | Glioma hemisférico difuso con mutación H3 G34 | |
| it | Glioma emisferico diffuso con mutazione H3 G34 | |
| nl | Diffuus hemisferisch glioom-H3 G34-mutant | |
| pt | Diffuse hemispheric glioma-H3 G34-mutant | |
| pl | Rozlany glejak półkulowy - mutacja H3 G34 | |
| cs | Diffuse hemispheric glioma-H3 G34-mutant |
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 |
| ICD-11 | XH2SS9 | E | specific | 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:251561High-grade astrocytoma
rare neurological diseases; rare neoplastic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| H3-3A | Disease-causing somatic mutation(s) in | Assessed | HGNC:4764 | ENSG00000163041 | 601128 | 1q42.12 | H3.3 histone A | 40402198[PMID]_36493960[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/715950
- This record as JSON: /data/d/715950.json