{"Name":"Congenital bile acid synthesis defect 3","DiseaseID__c":"GARD:0016713","id":16713,"encodedName":"congenital-bile-acid-synthesis-defect-3","IsDeleted":false,"Disease_Name_Full__c":"Congenital bile acid synthesis defect 3","Xref_IDs__c":"719454003; C3151147; C566340; DOID:0111070; MEDGEN:462497; MONDO:0013439; OMIM:613812; ORPHA:79302","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0013439","Disease_Description__c":"Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease.","GARD_Name__c":"Congenital bile acid synthesis defect 3","GARD_Synonym__c":"basd3; bile acid synthesis defect, congenital, type 3; cbas3; congenital bile acid synthesis defect caused by mutation in cyp7b1; congenital bile acid synthesis defect type 3; cyp7b1 congenital bile acid synthesis defect; oxysterol 7-alpha-hydroxylase deficiency","Curated_Disease_Description_Source__c":"ORPHA:79302","Curated_Disease_Description__c":"Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:79302","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013439","ORPHANET_ID__c":"ORPHA:79302","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Defecto congénito de la síntesis de ácidos biliares tipo 3","Spanish_Description_Source__c":"ORPHA:79302","Spanish_Description__c":"El defecto congénito de la síntesis ácidos biliares de tipo 3 (Defecto de la SAB, tipo 3) es una anomalía grave de la síntesis de ácidos biliares (ver este término), caracterizada por una grave enfermedad hepática colestásica neonatal.","Spanish_Disease_Name__c":"defecto congénito de la síntesis de ácidos biliares tipo 3","Spanish_GARD_Synonym__c":"basd3; deficiencia de oxiesterol 7-alfa-hidroxilasa","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":"Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease.","Curated_Disease_Description_Source__c":"ORPHA:79302","GARD_Synonym__c":"basd3; bile acid synthesis defect, congenital, type 3; cbas3; congenital bile acid synthesis defect caused by mutation in cyp7b1; congenital bile acid synthesis defect type 3; cyp7b1 congenital bile acid synthesis defect; oxysterol 7-alpha-hydroxylase deficiency","Name":"Congenital bile acid synthesis defect 3","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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:79302"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79302"}],"External_Identifier_Disease__c":[{"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%3A0111070","Source__c":"MONDO:0013439","Xref__c":"DOID:0111070"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719454003","Source__c":"MONDO:0013439","Xref__c":"719454003"},{"URL__c":"https://www.orpha.net/en/disease/detail/79302","Source__c":"C3151147; MONDO:0013439","Xref__c":"ORPHA:79302"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3151147","Source__c":"C3151147","Xref__c":"C3151147"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=462497","Source__c":"C3151147","Xref__c":"MEDGEN:462497"},{"URL__c":"https://www.omim.org/entry/613812","Source__c":"C3151147; MONDO:0013439; ORPHA:79302","Xref__c":"OMIM:613812"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566340","Source__c":"MONDO:0013439","Xref__c":"C566340"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013439","Source__c":"GARD:0016713","Xref__c":"MONDO:0013439"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CYP7B1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cyp7b1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79302","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:79302","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:79302","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031956","HPO_Synonym__c":"Aspartate aminotransferase increased; Elevated serum aspartate aminotransferase; Elevated serum AST; Elevated serum glutamic oxaloacetic transaminase","HPO_Name__c":"Elevated circulating aspartate aminotransferase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79302","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impairment of bile flow due to obstruction in bile ducts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001396","HPO_Synonym__c":"Slowed or blocked flow of bile from liver","HPO_Name__c":"Cholestasis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79302","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:79302","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":"ORPHA:79302","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally high concentration in the circulation of alanine aminotransferase (ALT).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031964","HPO_Synonym__c":"Alanine aminotransferase increased; Elevated serum alanine aminotransferase; Elevated serum ALT; Elevated serum glutamic-pyruvic transaminase","HPO_Name__c":"Elevated circulating alanine aminotransferase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79302","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly in the metabolism of a vitamin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100508","HPO_Synonym__c":"Abnormality of vitamin metabolism","HPO_Name__c":"Abnormality of vitamin metabolism","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79302","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:79302","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased amount of bilirubin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002904","HPO_Synonym__c":"High blood bilirubin levels","HPO_Name__c":"Hyperbilirubinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79302","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":"ORPHA:79302","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune 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","Pediatrics"]},"synonyms":["basd3"," bile acid synthesis defect, congenital, type 3"," cbas3"," congenital bile acid synthesis defect caused by mutation in cyp7b1"," congenital bile acid synthesis defect type 3"," cyp7b1 congenital bile acid synthesis defect"," oxysterol 7-alpha-hydroxylase deficiency"]}