{"Name":"Klatskin tumor","DiseaseID__c":"GARD:0010175","id":10175,"encodedName":"klatskin-tumor","IsDeleted":false,"Disease_Name_Full__c":"Klatskin tumor","Xref_IDs__c":"253017000; C36077; C4045991; D018285; DOID:4927; MEDGEN:878855; MONDO:0003345; ORPHA:99978","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":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0003345","Disease_Description__c":"A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts.","GARD_Name__c":"Klatskin tumor","GARD_Synonym__c":"cholangiocarcinoma of hilar portion of hepatic duct; cholangiocarcinoma of perihilar bile duct; hilar cc; hilar cca; hilar cholangiocarcinoma; hilar portion of hepatic duct cholangiocarcinoma; klatskin tumour; klatskin's tumor; klatskin's tumour; perihilar cholangiocarcinoma; perihilar extrahepatic bile duct carcinoma","Curated_Disease_Description_Source__c":"GARD:0010175","Curated_Disease_Description__c":"Klatskin tumors are are a type of cholangiocarcinoma that begins in an area called the hilum, where the left and right bile ducts join and leave the liver. It is the most common type of cholangiocarcinoma, accounting for more than half of all cases. Other symptoms include abdominal pain, unintentional weight loss, and a general feeling of being unwell (malaise). The cause of Klatskin tumors is unknown. Studies suggest that a combination of genetic, environmental, and lifestyle factors (multifactorial) likely influence whether a person will develop cholangiocarcinoma.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:99978","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0003345","ORPHANET_ID__c":"ORPHA:99978","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Colangiocarcinoma perihiliar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"colangiocarcinoma perihiliar","Spanish_GARD_Synonym__c":"cca hiliar; colangiocarcinoma hiliar; tumor de klatskin","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":"Klatskin tumors are are a type of cholangiocarcinoma that begins in an area called the hilum, where the left and right bile ducts join and leave the liver. It is the most common type of cholangiocarcinoma, accounting for more than half of all cases. Other symptoms include abdominal pain, unintentional weight loss, and a general feeling of being unwell (malaise). The cause of Klatskin tumors is unknown. Studies suggest that a combination of genetic, environmental, and lifestyle factors (multifactorial) likely influence whether a person will develop cholangiocarcinoma.","Curated_Disease_Description_Source__c":"GARD:0010175","GARD_Synonym__c":"cholangiocarcinoma of hilar portion of hepatic duct; cholangiocarcinoma of perihilar bile duct; hilar cc; hilar cca; hilar cholangiocarcinoma; hilar portion of hepatic duct cholangiocarcinoma; klatskin tumour; klatskin's tumor; klatskin's tumour; perihilar cholangiocarcinoma; perihilar extrahepatic bile duct carcinoma","Name":"Klatskin tumor","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Cholangiocarcinoma Foundation","Website__c":"https://cholangiocarcinoma.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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:99978"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=253017000","Source__c":"MONDO:0003345","Xref__c":"253017000"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C36077","Source__c":"C4045991; MONDO:0003345","Xref__c":"C36077"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C018285","Source__c":"C4045991; MONDO:0003345","Xref__c":"D018285"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4927","Source__c":"MONDO:0003345","Xref__c":"DOID:4927"},{"URL__c":"https://www.orpha.net/en/disease/detail/99978","Source__c":"C4045991; MONDO:0003345","Xref__c":"ORPHA:99978"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=878855","Source__c":"C4045991","Xref__c":"MEDGEN:878855"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4045991","Source__c":"C4045991","Xref__c":"C4045991"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=865951006","Source__c":"C4045991","Xref__c":"865951006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0003345","Source__c":"GARD:0010175","Xref__c":"MONDO:0003345"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:99978","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000952","HPO_Synonym__c":"Icterus; Jaundice; Yellow skin; Yellowing of the skin","HPO_Name__c":"Jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99978","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99978","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Enlargement (swelling) of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002716","HPO_Synonym__c":"Lymph node hyperplasia; Swollen lymph nodes","HPO_Name__c":"Lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99978","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99978","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Impairment of bile flow due to obstruction in large bile ducts outside the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012334","HPO_Name__c":"Extrahepatic cholestasis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99978","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99978","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99978","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030153","HPO_Synonym__c":"Bile duct cancer","HPO_Name__c":"Cholangiocarcinoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99978","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99978","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004936","HPO_Synonym__c":"Blood clot in vein","HPO_Name__c":"Venous thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Gastroenterology"],"Disease Category":["Cancer","Gastroenterology"]},"synonyms":["cholangiocarcinoma of hilar portion of hepatic duct"," cholangiocarcinoma of perihilar bile duct"," hilar cc"," hilar cca"," hilar cholangiocarcinoma"," hilar portion of hepatic duct cholangiocarcinoma"," klatskin tumour"," klatskin's tumor"," klatskin's tumour"," perihilar cholangiocarcinoma"," perihilar extrahepatic bile duct carcinoma"]}