ORPHA:357027
Hereditary retinoblastoma
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under Retinoblastoma
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary retinoblastoma | |
| fr | Rétinoblastome héréditaire | |
| de | Retinoblastom, familiäres | Retinoblastom, bilaterales · Retinoblastom, hereditäres |
| es | Retinoblastoma familiar | Retinoblastoma bilateral · Retinoblastoma hereditario |
| it | Retinoblastoma familiare | Retinoblastoma bilaterale · Retinoblastoma ereditario |
| nl | Familiaal retinoblastoom | Bilateraal retinoblastoom · Hereditair retinoblastoom |
| pt | Retinoblastoma familiar | |
| pl | Siatkówczak rodzinny | Siatkówczak dziedziczny · Sziatkówczak obustronny |
| cs | Dědičná/Hereditární forma retinoblastomu | |
| uk | Спадкова ретинобластома | |
| zh | 遗传性视网膜母细胞瘤 | |
| tr | Kalıtsal retinoblastom |
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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 | 0018160 | E | validated | |
| UMLS | C0751483 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:183619Genetic eye tumor
rare genetic diseases - ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:790Retinoblastoma
rare ophthalmic disorders; rare neoplastic diseases
No children.
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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 germline mutation(s) (loss of function) in | Assessed | HGNC:9884 | ENSG00000139687 | 614041 | 13q14.2 | RB transcriptional corepressor 1 | 20301625[PMID]_23498719[PMID]_23498780[PMID]_16934146[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| 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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/357027
- This record as JSON: /data/d/357027.json