{"Name":"Cholangiocarcinoma","DiseaseID__c":"GARD:0009304","id":9304,"encodedName":"cholangiocarcinoma","IsDeleted":false,"Disease_Name_Full__c":"Cholangiocarcinoma","Xref_IDs__c":"312104005; 423022704; 70179006; C0206698; C4436; D018281; DOID:4947; HP:0030153; MEDGEN:60210; MONDO:0019087; ORPHA:70567","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":3,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019087","Disease_Description__c":"A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor.","GARD_Name__c":"Cholangiocarcinoma","GARD_Synonym__c":"adult primary cholangiocarcinoma; adult primary cholangiocellular carcinoma; cc; cca; cholangiocar.- intra/extrahepatic; cholangiocarcinoma of biliary tract; cholangiocarcinoma, intrahepatic and extrahepatic bile ducts (adenocarcinoma); cholangiocarcinoma, malignant; cholangiocellular carcinoma; cholangiosarcoma","Curated_Disease_Description_Source__c":"MONDO:0019087","Curated_Disease_Description__c":"Cholangiocarcinoma is a group of cancers that begin in the bile ducts. Bile ducts are branched tubes that connect the liver and gallbladder to the small intestine. They carry bile, which is a fluid that helps the body digest fats that are in food. Bile is made in the liver and stored in the gallbladder before being released in the small intestine after a person eats. Cholangiocarcinoma is classified by its location in relation to the liver. Intrahepatic cholangiocarcinoma begins in the small bile ducts within the liver. This is the least common form of the disease, accounting for less than 10 percent of all cases. Perihilar cholangiocarcinoma (also known as a Klatskin tumor) begins in an area called the hilum, where the right and left major bile ducts join and leave the liver. It is the most common form of the disease, accounting for more than half of all cases. The remaining cases are classified as distal cholangiocarcinomas, which begin in bile ducts outside the liver. The perihilar and distal forms of the disease, which both occur outside the liver, are sometimes grouped together and called extrahepatic cholangiocarcinoma. The three types of cholangiocarcinoma do not usually cause any symptoms in their early stages, and this cancer is usually not diagnosed until it has already spread beyond the bile ducts to other tissues. Symptoms often result when bile ducts become blocked by the tumor. The most common symptom is jaundice, in which the skin and whites of the eyes turn yellow. Other symptoms can include extreme tiredness (fatigue), itching, dark-colored urine, loss of appetite, unintentional weight loss, abdominal pain, and light-colored and greasy stools. These symptoms are described as 'nonspecific' because they can be features of many different diseases. Most people who develop cholangiocarcinoma are older than 65. Because this cancer is often not discovered until it has already spread, it can be challenging to treat effectively. Affected individuals can survive for several months to several years after diagnosis, depending on the location of the cancer and how advanced it is.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:70567","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019087","ORPHANET_ID__c":"ORPHA:70567","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Colangiocarcinoma","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"colangiocarcinoma","Spanish_GARD_Synonym__c":"cca; cáncer de conducto biliar; cáncer de las vías biliares","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":"Cholangiocarcinoma is a group of cancers that begin in the bile ducts. Bile ducts are branched tubes that connect the liver and gallbladder to the small intestine. They carry bile, which is a fluid that helps the body digest fats that are in food. Bile is made in the liver and stored in the gallbladder before being released in the small intestine after a person eats. Cholangiocarcinoma is classified by its location in relation to the liver. Intrahepatic cholangiocarcinoma begins in the small bile ducts within the liver. This is the least common form of the disease, accounting for less than 10 percent of all cases. Perihilar cholangiocarcinoma (also known as a Klatskin tumor) begins in an area called the hilum, where the right and left major bile ducts join and leave the liver. It is the most common form of the disease, accounting for more than half of all cases. The remaining cases are classified as distal cholangiocarcinomas, which begin in bile ducts outside the liver. The perihilar and distal forms of the disease, which both occur outside the liver, are sometimes grouped together and called extrahepatic cholangiocarcinoma. The three types of cholangiocarcinoma do not usually cause any symptoms in their early stages, and this cancer is usually not diagnosed until it has already spread beyond the bile ducts to other tissues. Symptoms often result when bile ducts become blocked by the tumor. The most common symptom is jaundice, in which the skin and whites of the eyes turn yellow. Other symptoms can include extreme tiredness (fatigue), itching, dark-colored urine, loss of appetite, unintentional weight loss, abdominal pain, and light-colored and greasy stools. These symptoms are described as 'nonspecific' because they can be features of many different diseases. Most people who develop cholangiocarcinoma are older than 65. Because this cancer is often not discovered until it has already spread, it can be challenging to treat effectively. Affected individuals can survive for several months to several years after diagnosis, depending on the location of the cancer and how advanced it is.","Curated_Disease_Description_Source__c":"MONDO:0019087","GARD_Synonym__c":"adult primary cholangiocarcinoma; adult primary cholangiocellular carcinoma; cc; cca; cholangiocar.- intra/extrahepatic; cholangiocarcinoma of biliary tract; cholangiocarcinoma, intrahepatic and extrahepatic bile ducts (adenocarcinoma); cholangiocarcinoma, malignant; cholangiocellular carcinoma; cholangiosarcoma","Name":"Cholangiocarcinoma","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Canadian Cholangiocarcinoma Collaborative","Website__c":"https://www.cholangio.ca"},{"Account_Name__c":"Cholangio-Hepatocellular Carcinoma Canada","Website__c":"https://www.mychcc.ca"},{"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:70567"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009304","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=312104005","Source__c":"C0206698; MONDO:0019087","Xref__c":"312104005"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4436","Source__c":"C0206698; MONDO:0019087","Xref__c":"C4436"},{"URL__c":"https://www.orpha.net/en/disease/detail/70567","Source__c":"C0206698; MONDO:0019087; ORPHA:70567","Xref__c":"ORPHA:70567"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C018281","Source__c":"C0206698; MONDO:0019087","Xref__c":"D018281"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=60210","Source__c":"C0206698","Xref__c":"MEDGEN:60210"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0206698","Source__c":"C0206698","Xref__c":"C0206698"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4947","Source__c":"MONDO:0019087","Xref__c":"DOID:4947"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019087","Source__c":"GARD:0009304","Xref__c":"MONDO:0019087"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0030153","Source__c":"C0206698","Xref__c":"HP:0030153"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=70179006","Source__c":"C0206698","Xref__c":"70179006"},{"URL__c":"https://medlineplus.gov/genetics/condition/cholangiocarcinoma","Source__c":"GARD:0009304","Xref__c":"https://medlineplus.gov/genetics/condition/cholangiocarcinoma"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022704","Xref__c":"423022704"},{"URL__c":"https://www.cancer.gov/types/liver/bile-duct-cancer/treatment"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BRCA1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/brca1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"BRCA2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/brca2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PTPN3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:70567","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:70567","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Clay colored stools lacking bile pigment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011985","HPO_Synonym__c":"Acholia; Clay colored stools; Discolored, acholic stools","HPO_Name__c":"Acholic stools","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70567","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of desire to eat (loss of appetite).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002039","HPO_Synonym__c":"Anorexia; Deliberately not eating; Obsessive dieting; Refusing to eat","HPO_Name__c":"Anorexia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70567","HPO_Frequency__c":"Frequent (30-79%)","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:70567","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:70567","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70567","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the biliary system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100574","HPO_Name__c":"Biliary tract neoplasm","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70567","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"}}],"tags":{"Specialist":["Cancer - Oncologist","Gastroenterology"],"Disease Category":["Cancer","Gastroenterology"]},"synonyms":["adult primary cholangiocarcinoma"," adult primary cholangiocellular carcinoma"," cc"," cca"," cholangiocar.- intra/extrahepatic"," cholangiocarcinoma of biliary tract"," cholangiocarcinoma, intrahepatic and extrahepatic bile ducts (adenocarcinoma)"," cholangiocarcinoma, malignant"," cholangiocellular carcinoma"," cholangiosarcoma"]}