ORPHA:723358
Diffuse midline glioma, H3 K27-altered
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Diffuse midline glioma, H3 K27-altered | |
| fr | Gliome diffus de la ligne médiane avec altération H3K27 | |
| de | Diffuses Mittelliniengliom, H3-K27-alteriert | |
| es | Glioma difuso de la línea media con alteración H3 K27M | |
| it | Glioma diffuso della linea mediana, con alterazione di H3 K27 | |
| nl | Diffuus glioom in middenlijn, H3 K27-gewijzigd | |
| pt | Diffuse midline glioma, H3 K27-altered | |
| pl | Diffuse midline glioma, H3 K27-altered | |
| cs | Diffuse midline glioma, H3 K27-altered |
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 | XH7692 | 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:497188Diffuse intrinsic pontine glioma moved to · inactive
4
Genes
4 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 | 38102230[PMID]_36534421[PMID]_39376094[PMID] |
| H3C14 | Disease-causing somatic mutation(s) in | Assessed | HGNC:20503 | ENSG00000203811 | 142780 | 1q21.2 | H3 clustered histone 14 | 41492091[PMID] |
| H3C2 | Disease-causing somatic mutation(s) in | Assessed | HGNC:4776 | ENSG00000286522 | 602819 | 6p22.2 | H3 clustered histone 2 | 35606633[PMID] |
| H3C3 | Disease-causing somatic mutation(s) in | Assessed | HGNC:4768 | ENSG00000287080 | 602812 | 6p22.2 | H3 clustered histone 3 | 41492091[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 0.05 / 100 000 | Worldwide | Value and class | Validated | 29746225[PMID]_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/723358
- This record as JSON: /data/d/723358.json