{"Name":"Hyperbiliverdinemia","DiseaseID__c":"GARD:0017279","id":17279,"encodedName":"hyperbiliverdinemia","IsDeleted":false,"Disease_Name_Full__c":"Hyperbiliverdinemia","Xref_IDs__c":"771441005; C3279964; MEDGEN:481594; MONDO:0013595; OMIM:614156; ORPHA:276405","USA_Estimate__c":"1,000","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":"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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013595","Disease_Description__c":"Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported.","GARD_Name__c":"Hyperbiliverdinemia","GARD_Synonym__c":"green jaundice; hblvd","Curated_Disease_Description_Source__c":"MONDO:0013595","Curated_Disease_Description__c":"Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:276405","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013595","ORPHANET_ID__c":"ORPHA:276405","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperbiliverdinemia","Spanish_Description_Source__c":"ORPHA:276405","Spanish_Description__c":"Es una enfermedad hepática, genética y poco frecuente, caracterizada por una coloración verdosa de la piel, orina, plasma y otros fluidos (ascítico, leche materna) o de estructuras anatómicas (escleróticas) debido al aumento de los niveles séricos de biliverdina junto con obstrucción biliar y/o insuficiencia hepática. También se ha descrito la asociación con desnutrición, fármacos y atresia biliar congénita.","Spanish_Disease_Name__c":"hiperbiliverdinemia","Spanish_GARD_Synonym__c":"ictericia verde","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":"Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported.","Curated_Disease_Description_Source__c":"MONDO:0013595","GARD_Synonym__c":"green jaundice; hblvd","Name":"Hyperbiliverdinemia","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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:276405"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/276405","Source__c":"C3279964; MONDO:0013595; ORPHA:276405","Xref__c":"ORPHA:276405"},{"URL__c":"https://www.omim.org/entry/614156","Source__c":"C3279964; MONDO:0013595; ORPHA:276405","Xref__c":"OMIM:614156"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=481594","Source__c":"C3279964","Xref__c":"MEDGEN:481594"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3279964","Source__c":"C3279964","Xref__c":"C3279964"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013595","Source__c":"GARD:0017279","Xref__c":"MONDO:0013595"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771441005","Source__c":"C3279964","Xref__c":"771441005"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BLVRA","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614156","Feature__r":{"HPO_Description__c":"Hard, pebble-like deposits that form within the gallbladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001081","HPO_Synonym__c":"Gallstones","HPO_Name__c":"Cholelithiasis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614156","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":"OMIM:614156","Feature__r":{"HPO_Description__c":"Reduced ability of the liver to perform its functions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001410","HPO_Synonym__c":"Decreased liver function; Liver dysfunction","HPO_Name__c":"Decreased liver function","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614156","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal green color of urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032003","HPO_Name__c":"Green urine","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614156","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased concentration of biliverdin, a green tetrapyrrolic bile pigment, in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034383","HPO_Name__c":"Elevated circulating biliverdin concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Gastroenterology"]},"synonyms":["green jaundice"," hblvd"]}