{"Name":"Rotor syndrome","DiseaseID__c":"GARD:0000218","id":218,"encodedName":"rotor-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Rotor syndrome","Xref_IDs__c":"32891000; C0220991; MEDGEN:67435; MONDO:0009379; NBK114805; OMIM:237450; ORPHA:3111","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009379","Disease_Description__c":"A benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.","GARD_Name__c":"Rotor syndrome","GARD_Synonym__c":"hblrr; hyperbilirubinemia type i; hyperbilirubinemia, rotor type; hyperbilirubinemia, rotor type, digenic","Curated_Disease_Description_Source__c":"GARD:0000218","Curated_Disease_Description__c":"Rotor syndrome is a relatively mild condition characterized by elevated levels of a substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. It has an orange-yellow tint, and buildup of this substance can cause yellowing of the skin or whites of the eyes (jaundice). In people with Rotor syndrome, jaundice is usually evident shortly after birth or in childhood and may come and go; yellowing of the whites of the eyes (also called conjunctival icterus) is often the only symptom. There are two forms of bilirubin in the body: a toxic form called unconjugated bilirubin and a nontoxic form called conjugated bilirubin. People with Rotor syndrome have a buildup of both unconjugated and conjugated bilirubin in their blood, but the majority is conjugated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:3111","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009379","ORPHANET_ID__c":"ORPHA:3111","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de rotor","Spanish_Description_Source__c":"ORPHA:3111","Spanish_Description__c":"Es un trastorno benigno y hereditario del hígado, caracterizado por una hiperbilirrubinemia no hemolítica, crónica y predominantemente conjugada, con histología hepática normal.","Spanish_Disease_Name__c":"síndrome de rotor","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":"Rotor syndrome is a relatively mild condition characterized by elevated levels of a substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. It has an orange-yellow tint, and buildup of this substance can cause yellowing of the skin or whites of the eyes (jaundice). In people with Rotor syndrome, jaundice is usually evident shortly after birth or in childhood and may come and go; yellowing of the whites of the eyes (also called conjunctival icterus) is often the only symptom. There are two forms of bilirubin in the body: a toxic form called unconjugated bilirubin and a nontoxic form called conjugated bilirubin. People with Rotor syndrome have a buildup of both unconjugated and conjugated bilirubin in their blood, but the majority is conjugated.","Curated_Disease_Description_Source__c":"GARD:0000218","GARD_Synonym__c":"hblrr; hyperbilirubinemia type i; hyperbilirubinemia, rotor type; hyperbilirubinemia, rotor type, digenic","Name":"Rotor syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Liver Foundation","Website__c":"https://liverfoundation.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:3111"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0220991"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000218","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK114805","Source__c":"Gene Review","Xref__c":"NBK114805"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0220991","Source__c":"C0220991","Xref__c":"C0220991"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=67435","Source__c":"C0220991","Xref__c":"MEDGEN:67435"},{"URL__c":"https://www.orpha.net/en/disease/detail/3111","Source__c":"C0220991; MONDO:0009379; ORPHA:3111","Xref__c":"ORPHA:3111"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=32891000","Source__c":"C0220991; MONDO:0009379","Xref__c":"32891000"},{"URL__c":"https://www.omim.org/entry/237450","Source__c":"C0220991; MONDO:0009379; ORPHA:3111","Xref__c":"OMIM:237450"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009379","Source__c":"GARD:0000218","Xref__c":"MONDO:0009379"},{"URL__c":"https://medlineplus.gov/genetics/condition/rotor-syndrome","Source__c":"GARD:0000218","Xref__c":"https://medlineplus.gov/genetics/condition/rotor-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLCO1B3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/slco1b3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SLCO1B1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/slco1b1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3111","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012379","HPO_Name__c":"Abnormal circulating enzyme concentration or activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3111","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031137","HPO_Name__c":"Storage in hepatocytes","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3111","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of conjugated bilirubin in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031811","HPO_Name__c":"Bilirubinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3111","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":"ORPHA:3111","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032106","HPO_Synonym__c":"Scleral icterus; Yellow conjunctiva; Yellow sclera; Yellowing of the whites of the eyes","HPO_Name__c":"Conjunctival icterus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3111","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:3111","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:3111","HPO_Frequency__c":"Excluded (0%)","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":"ORPHA:3111","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:3111","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased excretion of porphyrins in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010473","HPO_Name__c":"Porphyrinuria","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":["hblrr"," hyperbilirubinemia type i"," hyperbilirubinemia, rotor type"," hyperbilirubinemia, rotor type, digenic"]}