ORPHA:790
Retinoblastoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Childhood, Infancy
- Status
- active
A rare eye tumor disease representing the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable and it can be hereditary or non hereditary, unilateral or bilateral.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Retinoblastoma | |
| fr | Rétinoblastome | |
| de | Retinoblastom | |
| es | Retinoblastoma | |
| it | Retinoblastoma | |
| nl | Retinoblastoom | |
| pt | Retinoblastoma | |
| pl | Siatkówczak | |
| cs | Retinoblastom | |
| uk | Ретинобластома | |
| zh | 视网膜母细胞瘤 | |
| tr | Retinoblastom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 180200 | E | validated | |
| ICD-10 | C69.2 | E | specific | validated |
| ICD-11 | 2D02.2 | E | specific | validated |
| MONDO | 0008380 | E | validated | |
| MeSH | D012175 | E | validated | |
| UMLS | C0035335 | E | validated | |
| GARD | 7563 | E | validated | |
| MedDRA | 10038916 | 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:101950Rare eye tumor
rare ophthalmic disorders; rare neoplastic diseases
4
Genes
0 direct · 4 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| MYCN | ORPHA:357027Hereditary retinoblastoma | Candidate gene tested in | Not yet assessed | HGNC:7559 | ENSG00000134323 | 164840 | 2p24.3 | MYCN proto-oncogene, bHLH transcription factor | 23498719[PMID]_23498720[PMID] |
| MYCN | ORPHA:357034Non-hereditary retinoblastoma | Candidate gene tested in | Not yet assessed | HGNC:7559 | ENSG00000134323 | 164840 | 2p24.3 | MYCN proto-oncogene, bHLH transcription factor | 23498719[PMID]_23498720[PMID] |
| RB1 | ORPHA:357027Hereditary retinoblastoma | 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] |
| RB1 | ORPHA:357034Non-hereditary retinoblastoma | 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
29 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.05 / 100 000 | Europe | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 4.6 / 100 000 | Taiwan, Province of China | Value and class | Validated | 19373260[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 5.9 / 100 000 | Korea, Republic of | Value and class | Validated | 24692122[PMID] |
| Lifetime Prevalence | 1-9 / 100 000 | 1.05 / 100 000 | Europe | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 6 / 100 000 | Worldwide | Value and class | Validated | 22414599[PMID]_19704035[PMID]_ [EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 5.05 / 100 000 | Japan | Value and class | Validated | 1513060[PMID] |
| Point prevalence | Unknown | — | Europe | Class only | Not yet validated | ORPHANET |
| Annual incidence | <1 / 1 000 000 | 0.018 / 100 000 | Austria | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.073 / 100 000 | Belgium | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.035 / 100 000 | Bulgaria | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.04 / 100 000 | Croatia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.018 / 100 000 | Estonia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.053 / 100 000 | Finland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.033 / 100 000 | Germany | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.043 / 100 000 | Iceland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.071 / 100 000 | Ireland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.045 / 100 000 | Italy | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.016 / 100 000 | Latvia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.017 / 100 000 | Lithuania | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.094 / 100 000 | Malta | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.071 / 100 000 | Norway | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.038 / 100 000 | Poland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.047 / 100 000 | Portugal | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.042 / 100 000 | Slovakia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.038 / 100 000 | Slovenia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.048 / 100 000 | Spain | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.039 / 100 000 | Switzerland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.071 / 100 000 | United Kingdom | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.107 / 100 000 | Netherlands | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
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
27 annotations · validated 2019-07-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0009919 | Retinoblastoma | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0000501 | Glaucoma | |
| HP:0031615 | Hypopyon | |
| HP:0000555 | Leukocoria | |
| HP:0000520 | Proptosis | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0012372 | Abnormal eye morphology | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0100658 | Cellulitis | |
| HP:0001100 | Heterochromia iridis | |
| HP:0011886 | Hyphema | |
| HP:0100243 | Leiomyosarcoma | |
| HP:0001909 | Leukemia | |
| HP:0002665 | Lymphoma | |
| HP:0002861 | Melanoma | |
| HP:0002669 | Osteosarcoma | |
| HP:0025337 | Red eye | |
| HP:0007663 | Reduced visual acuity | |
| HP:0007862 | Retinal calcification | |
| HP:0002859 | Rhabdomyosarcoma | |
| HP:0025244 | Subretinal pigment epithelium hemorrhage | |
| HP:0000554 | Uveitis | |
| HP:0007902 | Vitreous hemorrhage | |
| Very rare (<4-1%) | ||
| HP:0000175 | Cleft palate | |
| HP:0012254 | Ewing sarcoma | |
| HP:0009733 | Glioma | |
| HP:0030408 | Pineoblastoma | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 26755259[PMID]_25126964[PMID]_21150892[PMID]_20029477[PMID]_22414599[PMID]_6654325[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/790
- This record as JSON: /data/d/790.json