ORPHA:357034
Non-hereditary retinoblastoma
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under Retinoblastoma
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-hereditary retinoblastoma | |
| fr | Rétinoblastome non héréditaire | |
| de | Retinoblastom, unilaterales | Retinoblastom, nicht-familiäres · Retinoblastom, nicht-hereditäres |
| es | Retinoblastoma no hereditario | |
| it | Retinoblastoma unilaterale | Retinoblastoma non ereditario · Retinoblastoma non familiare |
| nl | Unilateraal retinoblastoom | Niet-hereditair retinoblastoom · Niet-familiaal retinoblastoom |
| pt | Retinoblastoma unilateral | |
| pl | Sziatkówczak jednostronny | Siatkówczak niedziedziczny · Siatkówczak nierodzinny |
| cs | Sporadická forma retinoblastomu | Nedědičná forma retinoblastomu |
| uk | Неспадкова ретинобластома | |
| zh | 非遗传性视网膜母细胞瘤 | |
| tr | Kalıtsal olmayan retinoblastoma |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 180200 | NTBT | validated | |
| ICD-10 | C69.2 | NTBT | attributed | validated |
| ICD-11 | 2D02.2 | NTBT | attributed | validated |
| MONDO | 0018161 | E | validated | |
| UMLS | C5680987 | 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:790Retinoblastoma
rare ophthalmic disorders; rare neoplastic diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYCN | Candidate gene tested in | Not yet assessed | HGNC:7559 | ENSG00000134323 | 164840 | 2p24.3 | MYCN proto-oncogene, bHLH transcription factor | 23498719[PMID]_23498720[PMID] |
| RB1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:9884 | ENSG00000139687 | 614041 | 13q14.2 | RB transcriptional corepressor 1 | 23498719[PMID]_23498780[PMID]_16934146[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.038 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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/357034
- This record as JSON: /data/d/357034.json