{"Name":"Progressive familial intrahepatic cholestasis type 3","DiseaseID__c":"GARD:0001289","id":1289,"encodedName":"progressive-familial-intrahepatic-cholestasis-type-3","IsDeleted":false,"Disease_Name_Full__c":"Progressive familial intrahepatic cholestasis type 3","Xref_IDs__c":"1186865008; C1865643; C535935; DOID:0070223; MEDGEN:356333; MONDO:0011214; OMIM:602347; ORPHA:79305","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011214","Disease_Description__c":"Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.","GARD_Name__c":"Progressive familial intrahepatic cholestasis type 3","GARD_Synonym__c":"abcb4 progressive familial intrahepatic cholestasis; cholestasis, progressive familial intrahepatic 3; cholestasis, progressive familial intrahepatic, type 3; low gamma-gt familial intrahepatic cholestasis; mdr3 deficiency; pfic3; progressive familial intrahepatic cholestasis caused by mutation in abcb4","Curated_Disease_Description_Source__c":"GARD:0001289","Curated_Disease_Description__c":"Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare condition that affects the liver. People with this condition generally develop signs and symptoms during late infancy or early childhood, which may include severe itching, jaundice, failure to thrive, portal hypertension (high blood pressure in the vein that provides blood to the liver) and hepatosplenomegaly (enlarged liver and spleen). The condition may progress to liver failure during childhood or adulthood. PFIC3 is caused by change in the ABCB4 gene and is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:79305","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011214","ORPHANET_ID__c":"ORPHA:79305","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Colestasis intrahepática familiar progresiva tipo 3","Spanish_Description_Source__c":"ORPHA:79305","Spanish_Description__c":"La colestasis intrahepática familiar progresiva tipo 3 (CIFP3), un tipo de colestasis intrahepática familiar progresiva (CIFP), es un trastorno hereditario de inicio tardía de formación de bilis de origen hepatocelular. Puede debutar desde la infancia hasta la edad adulta temprana.","Spanish_Disease_Name__c":"colestasis intrahepática familiar progresiva tipo 3","Spanish_GARD_Synonym__c":null,"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":"Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare condition that affects the liver. People with this condition generally develop signs and symptoms during late infancy or early childhood, which may include severe itching, jaundice, failure to thrive, portal hypertension (high blood pressure in the vein that provides blood to the liver) and hepatosplenomegaly (enlarged liver and spleen). The condition may progress to liver failure during childhood or adulthood. PFIC3 is caused by change in the ABCB4 gene and is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0001289","GARD_Synonym__c":"abcb4 progressive familial intrahepatic cholestasis; cholestasis, progressive familial intrahepatic 3; cholestasis, progressive familial intrahepatic, type 3; low gamma-gt familial intrahepatic cholestasis; mdr3 deficiency; pfic3; progressive familial intrahepatic cholestasis caused by mutation in abcb4","Name":"Progressive familial intrahepatic cholestasis type 3","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Liver Disease Foundation","Website__c":"https://childliverdisease.org/"},{"Account_Name__c":"American Liver Foundation","Website__c":"https://liverfoundation.org/"},{"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":"All ages","Provided_By__c":"ORPHA:79305"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1865643"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001289","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK584020","Source__c":"Gene Review","Xref__c":"NBK584020"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070223","Source__c":"MONDO:0011214","Xref__c":"DOID:0070223"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535935","Source__c":"MONDO:0011214","Xref__c":"C535935"},{"URL__c":"https://www.orpha.net/en/disease/detail/79305","Source__c":"C1865643; MONDO:0011214; ORPHA:79305","Xref__c":"ORPHA:79305"},{"URL__c":"https://www.omim.org/entry/602347","Source__c":"C1865643; MONDO:0011214; ORPHA:79305","Xref__c":"OMIM:602347"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1865643","Source__c":"C1865643","Xref__c":"C1865643"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=356333","Source__c":"C1865643","Xref__c":"MEDGEN:356333"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011214","Source__c":"GARD:0001289","Xref__c":"MONDO:0011214"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1186865008","Source__c":"C1865643","Xref__c":"1186865008"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ABCB4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/abcb4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:602347","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Fibroblast proliferation and fiber expansion from the portal areas to the lobule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006580","HPO_Name__c":"Portal fibrosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602347","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in the concentration of bile acid in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012202","HPO_Name__c":"Increased serum bile acid concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:602347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Proliferative changes of the bile ducts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001408","HPO_Synonym__c":"Proliferation of bile canaliculi","HPO_Name__c":"Bile duct proliferation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602347","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602347","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:602347","Feature__r":{"HPO_Description__c":"Impaired ability to absorb one or more nutrients from the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002024","HPO_Synonym__c":"Intestinal malabsorption; Malabsorption","HPO_Name__c":"Malabsorption","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602347","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:602347","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030948","HPO_Synonym__c":"Elevated serum GGT","HPO_Name__c":"Elevated gamma-glutamyltransferase level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:602347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001541","HPO_Synonym__c":"Accumulation of fluid in the abdomen; Peritoneal effusion","HPO_Name__c":"Ascites","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602347","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Infiltration of portal fields by inflammatory cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033196","HPO_Synonym__c":"Hepatic portal inflammation","HPO_Name__c":"Portal inflammation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602347","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"}},{"Provided_By__c":"OMIM:602347","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":"OMIM:602347","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:602347","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Gastroenterology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["abcb4 progressive familial intrahepatic cholestasis"," cholestasis, progressive familial intrahepatic 3"," cholestasis, progressive familial intrahepatic, type 3"," low gamma-gt familial intrahepatic cholestasis"," mdr3 deficiency"," pfic3"," progressive familial intrahepatic cholestasis caused by mutation in abcb4"]}