{"Name":"Cholestasis, progressive familial intrahepatic, 4","DiseaseID__c":"GARD:0009803","id":9803,"encodedName":"cholestasis-progressive-familial-intrahepatic-4","IsDeleted":false,"Disease_Name_Full__c":"Cholestasis, progressive familial intrahepatic, 4","Xref_IDs__c":"C2931067; DOID:0070224; MEDGEN:418976; MONDO:0014381; OMIM:615878; ORPHA:480483","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0014381","Disease_Description__c":"Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene.","GARD_Name__c":"Cholestasis, progressive familial intrahepatic, 4","GARD_Synonym__c":"cholestasis, progressive familial intrahepatic, type 4; pfic4; 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pfic4","Category_Linearization__c":"ORPHA:57146","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":"Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene.","Curated_Disease_Description_Source__c":"MONDO:0014381","GARD_Synonym__c":"cholestasis, progressive familial intrahepatic, type 4; pfic4; pfic4 - progressive familial intrahepatic cholestasis type 4; progressive familial intrahepatic cholestasis caused by mutation in tjp2; progressive familial intrahepatic cholestasis type 4; progressive familial intrahepatic cholestasis type iv; tjp2 deficit; tjp2 progressive familial intrahepatic cholestasis","Name":"Cholestasis, progressive familial intrahepatic, 4","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Progressive Familial Intrahepatic Cholestasis Advocacy and Resource Network","Website__c":"https://www.pfic.org"}],"GARD_Disease_Tag__c":[{"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"},{"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"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:480483"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:480483"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2931067"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009803","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931067","Source__c":"C2931067","Xref__c":"C2931067"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=418976","Source__c":"C2931067","Xref__c":"MEDGEN:418976"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070224","Source__c":"MONDO:0014381","Xref__c":"DOID:0070224"},{"URL__c":"https://www.orpha.net/en/disease/detail/480483","Source__c":"C2931067; MONDO:0014381; ORPHA:480483","Xref__c":"ORPHA:480483"},{"URL__c":"https://www.omim.org/entry/615878","Source__c":"C2931067; MONDO:0014381; ORPHA:480483","Xref__c":"OMIM:615878"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1295517006","Source__c":"C2931067","Xref__c":"1295517006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014381","Source__c":"GARD:0009803","Xref__c":"MONDO:0014381"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TJP2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615878","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased pressure in the portal vein.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001409","HPO_Name__c":"Portal hypertension","Feature_System__c":"Cardiovascular System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615878","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001402","HPO_Name__c":"Hepatocellular carcinoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615878","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001399","HPO_Synonym__c":"Hepatic insufficiency; Liver failure","HPO_Name__c":"Hepatic failure","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615878","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001394","HPO_Synonym__c":"Hepatic cirrhosis; Scar tissue replaces healthy tissue in the liver","HPO_Name__c":"Cirrhosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615878","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Impairment of bile flow due to obstruction in the small bile ducts within the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001406","HPO_Name__c":"Intrahepatic cholestasis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Gastroenterology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["cholestasis, progressive familial intrahepatic, type 4"," pfic4"," pfic4 - progressive familial intrahepatic cholestasis type 4"," progressive familial intrahepatic cholestasis caused by mutation in tjp2"," progressive familial intrahepatic cholestasis type 4"," progressive familial intrahepatic cholestasis type iv"," tjp2 deficit"," tjp2 progressive familial intrahepatic cholestasis"]}