{"Name":"Uveal melanoma","DiseaseID__c":"GARD:0008621","id":8621,"encodedName":"uveal-melanoma","IsDeleted":false,"Disease_Name_Full__c":"Uveal melanoma","Xref_IDs__c":"C0220633; C536494; C7712; D000098943; DOID:6039; HP:0007716; MEDGEN:65077; MONDO:0006486; OMIM:155720; ORPHA:39044","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0006486","Disease_Description__c":"A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B.","GARD_Name__c":"Uveal melanoma","GARD_Synonym__c":"intraocular melanoma; melanoma (disease) of uvea; melanoma of the uvea; melanoma of uvea; melanoma, uveal, malignant; uvea melanoma; uvea melanoma (disease)","Curated_Disease_Description_Source__c":"GARD:0008621","Curated_Disease_Description__c":"Uveal melanoma is a cancer of the pigment-producing cells (melanocytes) in the middle layer of the eye, called the uveal tract. The uveal tract has 3 main parts: (1) the choroid (the tissue layer filled with blood vessels); (2) the ciliary body (the ring of muscle tissue that changes the size of the pupil and the shape of the lens); and (3) the iris (the colored part of the eye). Most cases of Intraocular melanoma develop in the choroid, called choroidal melanoma. The ciliary body is less commonly a site of origin, and the iris is the least common. Each manifests with different clinical features and symptoms.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:39044","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0006486","ORPHANET_ID__c":"ORPHA:39044","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Melanoma uveal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"melanoma uveal","Spanish_GARD_Synonym__c":"melanoma coroideo; melanoma de coroides; melanoma de úvea; melanomas de coroides y cuerpo ciliar","Category_Linearization__c":"ORPHA:250908","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Uveal melanoma is a cancer of the pigment-producing cells (melanocytes) in the middle layer of the eye, called the uveal tract. The uveal tract has 3 main parts: (1) the choroid (the tissue layer filled with blood vessels); (2) the ciliary body (the ring of muscle tissue that changes the size of the pupil and the shape of the lens); and (3) the iris (the colored part of the eye). Most cases of Intraocular melanoma develop in the choroid, called choroidal melanoma. The ciliary body is less commonly a site of origin, and the iris is the least common. Each manifests with different clinical features and symptoms.","Curated_Disease_Description_Source__c":"GARD:0008621","GARD_Synonym__c":"intraocular melanoma; melanoma (disease) of uvea; melanoma of the uvea; melanoma of uvea; melanoma, uveal, malignant; uvea melanoma; uvea melanoma (disease)","Name":"Uveal melanoma","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Melanoma Research Foundation","Website__c":"https://www.melanoma.org/"},{"Account_Name__c":"EYEMELANOMA.ORG","Website__c":"https://eyemelanoma.org/"},{"Account_Name__c":"Ocular Melanoma Foundation","Website__c":"https://ocularmelanoma.org/"},{"Account_Name__c":"A Cure In Sight","Website__c":"https://acureinsight.org/"},{"Account_Name__c":"Melanoma Research Alliance","Website__c":"https://www.curemelanoma.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:39044"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0220633"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008621","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/155720","Source__c":"C0220633; MONDO:0006486; ORPHA:39044","Xref__c":"OMIM:155720"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536494","Source__c":"MONDO:0006486","Xref__c":"C536494"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=65077","Source__c":"C0220633","Xref__c":"MEDGEN:65077"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A6039","Source__c":"MONDO:0006486","Xref__c":"DOID:6039"},{"URL__c":"https://www.orpha.net/en/disease/detail/39044","Source__c":"C0220633; MONDO:0006486; ORPHA:39044","Xref__c":"ORPHA:39044"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C7712","Source__c":"C0220633; MONDO:0006486","Xref__c":"C7712"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0220633","Source__c":"C0220633","Xref__c":"C0220633"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0007716","Source__c":"C0220633","Xref__c":"HP:0007716"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000098943","Source__c":"C0220633","Xref__c":"D000098943"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0006486","Source__c":"GARD:0008621","Xref__c":"MONDO:0006486"},{"URL__c":"https://www.cancer.gov/types/eye"},{"URL__c":"https://www.cancer.gov/types/eye/patient/intraocular-melanoma-treatment-pdq"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GNA11","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gna11","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GNAQ","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gnaq","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"BAP1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/bap1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CYSLTR2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:39044","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200026","HPO_Synonym__c":"Eye pain","HPO_Name__c":"Ocular pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:39044","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Malignant tumor of melanocytes affecting the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011524","HPO_Name__c":"Iris melanoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:39044","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000539","HPO_Name__c":"Abnormality of refraction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:39044","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal dilatation of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011499","HPO_Synonym__c":"Dilated pupil","HPO_Name__c":"Mydriasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:39044","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Partial displacement of the lens in the inferior direction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008494","HPO_Synonym__c":"Inferior subluxated lens","HPO_Name__c":"Inferior lens subluxation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:39044","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Intraocular pressure that is 2 standard deviations above the population mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007906","HPO_Synonym__c":"Elevated intraocular pressure; Elevated IOP; High eye pressure; Increased intraocular pressure; Increased IOP; Raised intraocular pressure; Raised IOP","HPO_Name__c":"Ocular hypertension","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:39044","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation of the eye, parts of the eye or the periorbital region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100533","HPO_Synonym__c":"Inflammatory abnormality of the eye; Ocular inflammation","HPO_Name__c":"Inflammatory abnormality of the eye","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:39044","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bleeding within the vitreous compartment of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007902","HPO_Name__c":"Vitreous hemorrhage","Feature_System__c":"Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:39044","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Perceived flashes of light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030786","HPO_Name__c":"Photopsia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:39044","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:39044","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012508","HPO_Name__c":"Metamorphopsia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:39044","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012054","HPO_Name__c":"Choroidal melanoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:39044","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Malignant tumor of melanocytes of the ciliary body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012055","HPO_Name__c":"Ciliary body melanoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:39044","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Separation of the inner layers of the retina (neural retina) from the pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000541","HPO_Synonym__c":"Detached retina; Retinal detachment","HPO_Name__c":"Retinal detachment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:39044","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030800","HPO_Name__c":"Abnormal visual accommodation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:39044","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the fundus of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001098","HPO_Synonym__c":"Abnormality of the fundus","HPO_Name__c":"Abnormal fundus morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:39044","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Zonular cataracts are defined to be cataracts that affect specific regions of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010920","HPO_Name__c":"Zonular cataract","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Ophthalmology"],"Disease Category":["Cancer"]},"synonyms":["intraocular melanoma"," melanoma (disease) of uvea"," melanoma of the uvea"," melanoma of uvea"," melanoma, uveal, malignant"," uvea melanoma"," uvea melanoma (disease)"]}