{"Name":"Benign recurrent intrahepatic cholestasis type 1","DiseaseID__c":"GARD:0010028","id":10028,"encodedName":"benign-recurrent-intrahepatic-cholestasis-type-1","IsDeleted":false,"Disease_Name_Full__c":"Benign recurrent intrahepatic cholestasis type 1","Xref_IDs__c":"C4551899; DOID:0070231; MEDGEN:1637492; MONDO:0009469; OMIM:243300; ORPHA:99960","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009469","Disease_Description__c":"Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity.","GARD_Name__c":"Benign recurrent intrahepatic cholestasis type 1","GARD_Synonym__c":"atp8b1 benign recurrent intrahepatic cholestasis; benign recurrent intrahepatic cholestasis caused by mutation in atp8b1; bric type 1; bric1; cholestasis, benign recurrent intrahepatic, type 1; summerskill syndrome","Curated_Disease_Description_Source__c":"GARD:0010028","Curated_Disease_Description__c":"Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years. Most people with BRIC1 have their first episode of cholestasis in their teens or twenties. Symptoms often present with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by genetic changes in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern. BRIC1 generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:99960","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009469","ORPHANET_ID__c":"ORPHA:99960","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Colestasis intrahepática recurrente benigna tipo 1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"colestasis intrahepática recurrente benigna tipo 1","Spanish_GARD_Synonym__c":"bric tipo 1; bric1","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":"Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years. Most people with BRIC1 have their first episode of cholestasis in their teens or twenties. Symptoms often present with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by genetic changes in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern. BRIC1 generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity.","Curated_Disease_Description_Source__c":"GARD:0010028","GARD_Synonym__c":"atp8b1 benign recurrent intrahepatic cholestasis; benign recurrent intrahepatic cholestasis caused by mutation in atp8b1; bric type 1; bric1; cholestasis, benign recurrent intrahepatic, type 1; summerskill syndrome","Name":"Benign recurrent intrahepatic cholestasis type 1","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010028","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1297","Source__c":"Gene Review","Xref__c":"NBK1297"},{"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%3A0070231","Source__c":"MONDO:0009469","Xref__c":"DOID:0070231"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4551899","Source__c":"C4551899","Xref__c":"C4551899"},{"URL__c":"https://www.omim.org/entry/243300","Source__c":"C4551899; MONDO:0009469; ORPHA:99960","Xref__c":"OMIM:243300"},{"URL__c":"https://www.orpha.net/en/disease/detail/99960","Source__c":"C4551899; MONDO:0009469; ORPHA:99960","Xref__c":"ORPHA:99960"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1637492","Source__c":"C4551899","Xref__c":"MEDGEN:1637492"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009469","Source__c":"GARD:0010028","Xref__c":"MONDO:0009469"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ATP8B1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/atp8b1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:243300","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"}},{"Provided_By__c":"OMIM:243300","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:243300","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:243300","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006575","HPO_Name__c":"Intrahepatic cholestasis with episodic jaundice","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243300","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243300","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:243300","Feature__r":{"HPO_Description__c":"The presence of inflammation in the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001733","HPO_Synonym__c":"Pancreatic inflammation","HPO_Name__c":"Pancreatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243300","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Gastroenterology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Gastroenterology"]},"synonyms":["atp8b1 benign recurrent intrahepatic cholestasis"," benign recurrent intrahepatic cholestasis caused by mutation in atp8b1"," bric type 1"," bric1"," cholestasis, benign recurrent intrahepatic, type 1"," summerskill syndrome"]}