ORPHA:723203
Choroidal and ciliary body melanoma
Synonyms: Melanoma of choroid and cilliary body
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Choroidal and ciliary body melanoma | Melanoma of choroid and cilliary body |
| fr | Mélanome de la choroïde et du corps ciliaire | Mélanome de la choroïde et du coprs ciliaire |
| de | Melanom der Choroidea und des Ziliarkörpers | Aderhautmelanom · Ziliarkörpermelanom |
| es | Melanoma de coroides y cuerpo ciliar | Melanoma de coroides · Melanoma de cuerpo ciliar |
| it | Melanoma della coroide e del corpo ciliare | Melanoma del corpo ciliare · Melanoma della coroide |
| nl | Melanoom van choroidea en corpus ciliare | Melanoom van choroidea · Melanoom van vaatvlies · Choroideamelanoom · Melanoom van corpus ciliare · Melanoom van straallichaam · Melanoom van vaatvlies en straallichaam |
| pt | Choroidal and ciliary body melanoma | |
| pl | Choroidal and ciliary body melanoma | = en |
| cs | Choroidal and ciliary body melanoma | = en |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:716210Rare malignant neoplastic choroidal disorder
rare ophthalmic disorders; rare neoplastic diseases
No children.
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Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SF3B1 | Biomarker tested in | Assessed | HGNC:10768 | ENSG00000115524 | 605590 | 2q33.1 | splicing factor 3b subunit 1 | 23861464[PMID]_23714557[PMID] |
| BAP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:950 | ENSG00000163930 | 603089 | 3p21.1 | BRCA1 associated deubiquitinase 1 | 21941004[PMID] |
| BAP1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:950 | ENSG00000163930 | 603089 | 3p21.1 | BRCA1 associated deubiquitinase 1 | 21051595[PMID] |
| CYSLTR2 | Disease-causing somatic mutation(s) in | Assessed | HGNC:18274 | ENSG00000152207 | 605666 | 13q14.2 | cysteinyl leukotriene receptor 2 | 27089179[PMID] |
| GNA11 | Disease-causing somatic mutation(s) in | Assessed | HGNC:4379 | ENSG00000088256 | 139313 | 19p13.3 | G protein subunit alpha 11 | 21083380[PMID]_23714557[PMID] |
| GNAQ | Disease-causing somatic mutation(s) in | Assessed | HGNC:4390 | ENSG00000156052 | 600998 | 9q21.2 | G protein subunit alpha q | 21083380[PMID]_23714557[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.6 / 100 000 | Worldwide | Value and class | Validated | 37865279[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.
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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/723203
- This record as JSON: /data/d/723203.json