{"Name":"BAP1-related tumor predisposition syndrome","DiseaseID__c":"GARD:0013219","id":13219,"encodedName":"bap1-related-tumor-predisposition-syndrome","IsDeleted":false,"Disease_Name_Full__c":"BAP1-related tumor predisposition syndrome","Xref_IDs__c":"765057007; C172639; C3280492; MEDGEN:482122; MONDO:0013692; OMIM:614327; ORPHA:289539","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013692","Disease_Description__c":"BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.","GARD_Name__c":"BAP1-related tumor predisposition syndrome","GARD_Synonym__c":"bap1 tumor predisposition syndrome; common syndrome; tpds1; tumor predisposition syndrome 1; tumor susceptibility linked to germline bap1 mutations; tumour susceptibility linked to germline bap1 mutations","Curated_Disease_Description_Source__c":"MEDGEN:C3280492","Curated_Disease_Description__c":"BAP1 tumor predisposition syndrome is an inherited disorder that increases the risk of a variety of cancerous (malignant) and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the skin, eyes, kidneys, and the tissue that lines the chest, abdomen, and the outer surface of the internal organs (the mesothelium). Affected individuals can develop one or more types of tumor, and affected members of the same family can have different types. Some people with BAP1 tumor predisposition syndrome develop growths in the skin known as atypical Spitz tumors. People with this syndrome may have more than one of these tumors, and they can have dozens. Atypical Spitz tumors are generally considered benign, although it is unclear if they can become cancerous. Skin cancers are also associated with BAP1 tumor predisposition syndrome, including cutaneous melanoma and basal cell carcinoma. A type of eye cancer called uveal melanoma is the most common cancerous tumor in BAP1 tumor predisposition syndrome. Although uveal melanoma does not usually cause any symptoms, some people with this type of cancer have blurred vision; small, moving dots (floaters) or flashes of light in their vision; headaches; or a visible dark spot on the eye. People with BAP1 tumor predisposition syndrome are at risk of developing malignant mesothelioma, which is cancer of the mesothelium. When associated with BAP1 tumor predisposition syndrome, malignant mesothelioma most often occurs in the membrane that lines the abdomen and covers the abdominal organs (the peritoneum). It less commonly occurs in the outer covering of the lungs (the pleura). A form of kidney cancer called clear cell renal cell carcinoma is also associated with the condition. Researchers are still determining whether other forms of cancer are linked to BAP1 tumor predisposition syndrome. When they occur in people with BAP1 tumor predisposition syndrome, cancers tend to arise at a younger age and are often more aggressive than cancers in the general population. The cancerous tumors in BAP1 tumor predisposition syndrome tend to spread (metastasize) to other parts of the body. Survival of affected individuals with this syndrome is usually shorter than in other people who have one of these cancers. However, individuals with malignant mesothelioma as part of the BAP1 tumor predisposition syndrome appear to survive longer than those who have the cancer without the syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:289539","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013692","ORPHANET_ID__c":"ORPHA:289539","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de predisposición tumoral asociado a bap1","Spanish_Description_Source__c":"ORPHA:289539","Spanish_Description__c":"Es un síndrome de predisposición hereditaria al cáncer, relacionado con mutaciones en la línea germinal del gen supresor de tumores <i>BAP1</i>. Los tipos de cáncer más comúnmente observados incluyen melanoma uveal, mesotelioma maligno, carcinoma de células renales, cáncer de pulmón, de ovario, pancreático, de mama y meningioma, con una edad variable de presentación. Las manifestaciones cutáneas comunes incluyen melanoma maligno, carcinoma basocelular y tumores intradérmicos atípicos melanocíticos benignos asociados a mutaciones en <i>BAP1</i> (MBAIT), que se presentan con múltiples pápulas bien circunscritas del color de la piel a marrón-rojizo, en forma de cúpula a pedunculada, con un tamaño promedio de 5 mm. Histológicamente están compuestos, predominantemente, por melanocitos epitelioides con abundante citoplasma anfofílico, nucleolos prominentes y núcleos vesiculares grandes, que varían sustancialmente en tamaño y forma.","Spanish_Disease_Name__c":"síndrome de predisposición tumoral asociado a bap1","Spanish_GARD_Synonym__c":null,"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":"BAP1 tumor predisposition syndrome is an inherited disorder that increases the risk of a variety of cancerous (malignant) and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the skin, eyes, kidneys, and the tissue that lines the chest, abdomen, and the outer surface of the internal organs (the mesothelium). Affected individuals can develop one or more types of tumor, and affected members of the same family can have different types. Some people with BAP1 tumor predisposition syndrome develop growths in the skin known as atypical Spitz tumors. People with this syndrome may have more than one of these tumors, and they can have dozens. Atypical Spitz tumors are generally considered benign, although it is unclear if they can become cancerous. Skin cancers are also associated with BAP1 tumor predisposition syndrome, including cutaneous melanoma and basal cell carcinoma. A type of eye cancer called uveal melanoma is the most common cancerous tumor in BAP1 tumor predisposition syndrome. Although uveal melanoma does not usually cause any symptoms, some people with this type of cancer have blurred vision; small, moving dots (floaters) or flashes of light in their vision; headaches; or a visible dark spot on the eye. People with BAP1 tumor predisposition syndrome are at risk of developing malignant mesothelioma, which is cancer of the mesothelium. When associated with BAP1 tumor predisposition syndrome, malignant mesothelioma most often occurs in the membrane that lines the abdomen and covers the abdominal organs (the peritoneum). It less commonly occurs in the outer covering of the lungs (the pleura). A form of kidney cancer called clear cell renal cell carcinoma is also associated with the condition. Researchers are still determining whether other forms of cancer are linked to BAP1 tumor predisposition syndrome. When they occur in people with BAP1 tumor predisposition syndrome, cancers tend to arise at a younger age and are often more aggressive than cancers in the general population. The cancerous tumors in BAP1 tumor predisposition syndrome tend to spread (metastasize) to other parts of the body. Survival of affected individuals with this syndrome is usually shorter than in other people who have one of these cancers. However, individuals with malignant mesothelioma as part of the BAP1 tumor predisposition syndrome appear to survive longer than those who have the cancer without the syndrome.","Curated_Disease_Description_Source__c":"MEDGEN:C3280492","GARD_Synonym__c":"bap1 tumor predisposition syndrome; common syndrome; tpds1; tumor predisposition syndrome 1; tumor susceptibility linked to germline bap1 mutations; tumour susceptibility linked to germline bap1 mutations","Name":"BAP1-related tumor predisposition syndrome","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:289539"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3280492"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013219","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK390611","Source__c":"Gene Review","Xref__c":"NBK390611"},{"URL__c":"https://www.omim.org/entry/614327","Source__c":"C3280492; MONDO:0013692; ORPHA:289539","Xref__c":"OMIM:614327"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3280492","Source__c":"C3280492","Xref__c":"C3280492"},{"URL__c":"https://www.orpha.net/en/disease/detail/289539","Source__c":"C3280492; MONDO:0013692","Xref__c":"ORPHA:289539"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=765057007","Source__c":"MONDO:0013692","Xref__c":"765057007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=482122","Source__c":"C3280492","Xref__c":"MEDGEN:482122"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C172639","Source__c":"MONDO:0013692","Xref__c":"C172639"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013692","Source__c":"GARD:0013219","Xref__c":"MONDO:0013692"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BAP1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/bap1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614327","Feature__r":{"HPO_Description__c":"A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005584","HPO_Synonym__c":"Cancer starting in small tubes in kidneys; Hypernephroma; Renal carcinoma","HPO_Name__c":"Renal cell carcinoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614327","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma being the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100001","HPO_Name__c":"Malignant mesothelioma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614327","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a melanoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012056","HPO_Name__c":"Cutaneous melanoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614327","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007716","HPO_Synonym__c":"Intraocular melanoma","HPO_Name__c":"Uveal melanoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614327","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002858","HPO_Name__c":"Meningioma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614327","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030078","HPO_Name__c":"Lung adenocarcinoma","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics"],"Cause":["Genetics"],"Disease Category":["Genetics"]},"synonyms":["bap1 tumor predisposition syndrome"," common syndrome"," tpds1"," tumor predisposition syndrome 1"," tumor susceptibility linked to germline bap1 mutations"," tumour susceptibility linked to germline bap1 mutations"]}