{"Name":"Progressive familial intrahepatic cholestasis type 2","DiseaseID__c":"GARD:0001288","id":1288,"encodedName":"progressive-familial-intrahepatic-cholestasis-type-2","IsDeleted":false,"Disease_Name_Full__c":"Progressive familial intrahepatic cholestasis type 2","Xref_IDs__c":"1155841005; C3489789; DOID:0070222; MEDGEN:483742; MONDO:0011156; OMIM:601847; ORPHA:79304","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011156","Disease_Description__c":"Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.","GARD_Name__c":"Progressive familial intrahepatic cholestasis type 2","GARD_Synonym__c":"abcb11 progressive familial intrahepatic cholestasis; bsep (bile salt export pump) deficiency; bsep deficiency; cholestasis, progressive familial intrahepatic 2; cholestasis, progressive familial intrahepatic, type 2; pfic2; pfic2 - progressive familial intrahepatic cholestasis type 2; progressive familial intrahepatic cholestasis caused by mutation in abcb11","Curated_Disease_Description_Source__c":"GARD:0001288","Curated_Disease_Description__c":"Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare condition that affects the liver. People with this condition generally develop signs and symptoms during infancy, 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). Affected people also have an increased risk of developing hepatocellular carcinoma (a form of liver cancer). PFIC2 is caused by change in the ABCB11 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":"as a Newborn and as an Infant","SourceID__c":"ORPHA:79304","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011156","ORPHANET_ID__c":"ORPHA:79304","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Colestasis intrahepática familiar progresiva tipo 2","Spanish_Description_Source__c":"ORPHA:79304","Spanish_Description__c":"La colestasis intrahepática familiar progresiva tipo 2 (CIFP2), un tipo de colestasis intrahepática familiar progresiva (CIFP), es un trastorno hereditario neonatal grave de formación de bilis, de origen hepatocelular y que no asocia características extrahepáticas. Inicialmente, la CIFP2 se describió con el nombre de síndrome de Byler.","Spanish_Disease_Name__c":"colestasis intrahepática familiar progresiva tipo 2","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 2 (PFIC2) is a rare condition that affects the liver. People with this condition generally develop signs and symptoms during infancy, 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). Affected people also have an increased risk of developing hepatocellular carcinoma (a form of liver cancer). PFIC2 is caused by change in the ABCB11 gene and is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0001288","GARD_Synonym__c":"abcb11 progressive familial intrahepatic cholestasis; bsep (bile salt export pump) deficiency; bsep deficiency; cholestasis, progressive familial intrahepatic 2; cholestasis, progressive familial intrahepatic, type 2; pfic2; pfic2 - progressive familial intrahepatic cholestasis type 2; progressive familial intrahepatic cholestasis caused by mutation in abcb11","Name":"Progressive familial intrahepatic cholestasis type 2","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":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.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":"Infancy","Provided_By__c":"ORPHA:79304"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79304"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2608083"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001288","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%3A0070222","Source__c":"MONDO:0011156","Xref__c":"DOID:0070222"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=483742","Source__c":"C3489789","Xref__c":"MEDGEN:483742"},{"URL__c":"https://www.orpha.net/en/disease/detail/79304","Source__c":"C3489789; MONDO:0011156; ORPHA:79304","Xref__c":"ORPHA:79304"},{"URL__c":"https://www.omim.org/entry/601847","Source__c":"C3489789; MONDO:0011156; ORPHA:79304","Xref__c":"OMIM:601847"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3489789","Source__c":"C3489789","Xref__c":"C3489789"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1155841005","Source__c":"C3489789","Xref__c":"1155841005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011156","Source__c":"GARD:0001288","Xref__c":"MONDO:0011156"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ABCB11","GHR_URL__c":"https://medlineplus.gov/genetics/gene/abcb11","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601847","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:601847","Feature__r":{"HPO_Description__c":"Abnormality of the absorption of fat from the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002630","HPO_Name__c":"Fat malabsorption","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601847","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:601847","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601847","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:601847","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601847","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":"OMIM:601847","Feature__r":{"HPO_Description__c":"Jaundice that is sometimes present, sometimes not.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001046","HPO_Synonym__c":"Intermittent icterus; Intermittent yellow skin; Intermittent yellowing of skin","HPO_Name__c":"Intermittent jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601847","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:601847","Feature__r":{"HPO_Description__c":"Abnormally increased serum levels of alkaline phosphatase activity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003155","HPO_Synonym__c":"Elevated alkaline phosphatase; Elevated ALP; Greatly elevated alkaline phosphatase; High serum alkaline phosphatase; Hyperphosphatasemia; Hyperphosphatasia; Increased alkaline phosphatase; Increased serum alkaline phosphatase","HPO_Name__c":"Elevated circulating alkaline phosphatase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:601847","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:601847","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:601847","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002908","HPO_Synonym__c":"Direct hyperbilirubinemia","HPO_Name__c":"Conjugated hyperbilirubinemia","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Gastroenterology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["abcb11 progressive familial intrahepatic cholestasis"," bsep (bile salt export pump) deficiency"," bsep deficiency"," cholestasis, progressive familial intrahepatic 2"," cholestasis, progressive familial intrahepatic, type 2"," pfic2"," pfic2 - progressive familial intrahepatic cholestasis type 2"," progressive familial intrahepatic cholestasis caused by mutation in abcb11"]}