{"Name":"Dubin-Johnson syndrome","DiseaseID__c":"GARD:0002793","id":2793,"encodedName":"dubin-johnson-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Dubin-Johnson syndrome","Xref_IDs__c":"44553005; C0022350; C34741; D007566; DOID:12308; MEDGEN:7181; MONDO:0009380; OMIM:237500; ORPHA:234","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009380","Disease_Description__c":"Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.","GARD_Name__c":"Dubin-Johnson syndrome","GARD_Synonym__c":"black liver-jaundice syndrome; chronic idiopathic jaundice; chronic idiopathic jaundice with pigmented liver; djs; djs - dubin-johnson syndrome; dubin johnson syndrome; dubin-sprinz disease; dubin-sprinz syndrome; hyperbilirubinemia ii; hyperbilirubinemia type 2; hyperbilirubinemia, dubin-johnson type; icterus-hepatic pigmentation syndrome; jaundice, chronic idiopathic; sprinz nelson syndrome; sprinz-nelson syndrome","Curated_Disease_Description_Source__c":"MEDGEN:C0022350","Curated_Disease_Description__c":"Dubin-Johnson syndrome is a condition characterized by jaundice, which is a yellowing of the skin and whites of the eyes. In most affected people jaundice appears during adolescence or early adulthood. Jaundice is typically the only feature of Dubin-Johnson syndrome, but some people can experience weakness, mild abdominal pain, nausea, or vomiting. In most people with Dubin-Johnson syndrome, certain deposits build up in the liver but do not seem to impair liver function. The deposits make the liver appear black when viewed with medical imaging. Rarely, jaundice develops soon after birth in individuals with Dubin-Johnson syndrome. Affected infants typically also have enlarged livers (hepatomegaly) and a severely reduced ability to produce and release a digestive fluid called bile (cholestasis). As these children get older, their liver problems go away and they usually do not have any related health problems later in life.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:234","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009380","ORPHANET_ID__c":"ORPHA:234","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de dubin-johnson","Spanish_Description_Source__c":"ORPHA:234","Spanish_Description__c":"El síndrome de Dubin-Johnson (SDJ) es una enfermedad hepática hereditaria benigna, caracterizada, desde el punto de vista clínico, por una hiperbilirrubinemia crónica predominantemente conjugada, y, desde el punto de vista histopatológico, por depósitos de pigmentos de color marrón-negruzco en las células parenquimales hepáticas.","Spanish_Disease_Name__c":"síndrome de dubin-johnson","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":"Dubin-Johnson syndrome is a condition characterized by jaundice, which is a yellowing of the skin and whites of the eyes. In most affected people jaundice appears during adolescence or early adulthood. Jaundice is typically the only feature of Dubin-Johnson syndrome, but some people can experience weakness, mild abdominal pain, nausea, or vomiting. In most people with Dubin-Johnson syndrome, certain deposits build up in the liver but do not seem to impair liver function. The deposits make the liver appear black when viewed with medical imaging. Rarely, jaundice develops soon after birth in individuals with Dubin-Johnson syndrome. Affected infants typically also have enlarged livers (hepatomegaly) and a severely reduced ability to produce and release a digestive fluid called bile (cholestasis). As these children get older, their liver problems go away and they usually do not have any related health problems later in life.","Curated_Disease_Description_Source__c":"MEDGEN:C0022350","GARD_Synonym__c":"black liver-jaundice syndrome; chronic idiopathic jaundice; chronic idiopathic jaundice with pigmented liver; djs; djs - dubin-johnson syndrome; dubin johnson syndrome; dubin-sprinz disease; dubin-sprinz syndrome; hyperbilirubinemia ii; hyperbilirubinemia type 2; hyperbilirubinemia, dubin-johnson type; icterus-hepatic pigmentation syndrome; jaundice, chronic idiopathic; sprinz nelson syndrome; sprinz-nelson syndrome","Name":"Dubin-Johnson syndrome","estimateUsa":""}],"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":"Adolescent","Provided_By__c":"ORPHA:234"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:234"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0022350"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002793","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34741","Source__c":"C0022350; MONDO:0009380","Xref__c":"C34741"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=44553005","Source__c":"C0022350; MONDO:0009380","Xref__c":"44553005"},{"URL__c":"https://www.orpha.net/en/disease/detail/234","Source__c":"C0022350; MONDO:0009380; ORPHA:234","Xref__c":"ORPHA:234"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A12308","Source__c":"MONDO:0009380","Xref__c":"DOID:12308"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C007566","Source__c":"C0022350; MONDO:0009380","Xref__c":"D007566"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0022350","Source__c":"C0022350","Xref__c":"C0022350"},{"URL__c":"https://www.omim.org/entry/237500","Source__c":"C0022350; MONDO:0009380; ORPHA:234","Xref__c":"OMIM:237500"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=7181","Source__c":"C0022350","Xref__c":"MEDGEN:7181"},{"URL__c":"https://medlineplus.gov/genetics/condition/dubin-johnson-syndrome","Source__c":"GARD:0002793","Xref__c":"https://medlineplus.gov/genetics/condition/dubin-johnson-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009380","Source__c":"GARD:0002793","Xref__c":"MONDO:0009380"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ABCC2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/abcc2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:234","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:234","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:234","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:234","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001392","HPO_Synonym__c":"Abnormal liver; Abnormality of the liver; Liver abnormality","HPO_Name__c":"Abnormality of the liver","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:234","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the biliary tree.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001080","HPO_Name__c":"Biliary tract abnormality","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:234","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:234","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:234","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:234","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the gastric mucous membrane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004295","HPO_Synonym__c":"Abnormality of the gastric mucosa; Abnormality of the mucous membrane layer of stomach","HPO_Name__c":"Abnormal gastric mucosa morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:234","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012086","HPO_Synonym__c":"Abnormal urinary color; Abnormal urine color","HPO_Name__c":"Abnormal urinary color","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:234","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001928","HPO_Synonym__c":"Abnormal blood coagulation studies; Coagulation abnormalities; Coagulation abnormality; Haemorrhagic disorders","HPO_Name__c":"Abnormality of coagulation","Feature_System__c":"Blood and Blood-Forming Tissue","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":["black liver-jaundice syndrome"," chronic idiopathic jaundice"," chronic idiopathic jaundice with pigmented liver"," djs"," djs - dubin-johnson syndrome"," dubin johnson syndrome"," dubin-sprinz disease"," dubin-sprinz syndrome"," hyperbilirubinemia ii"," hyperbilirubinemia type 2"," hyperbilirubinemia, dubin-johnson type"," icterus-hepatic pigmentation syndrome"," jaundice, chronic idiopathic"," sprinz nelson syndrome"," sprinz-nelson syndrome"]}