{"Name":"Crigler-Najjar syndrome, type II","DiseaseID__c":"GARD:0008683","id":8683,"encodedName":"crigler-najjar-syndrome-type-ii","IsDeleted":false,"Disease_Name_Full__c":"Crigler-Najjar syndrome, type II","Xref_IDs__c":"68067009; C2931132; C536213; MEDGEN:419718; MONDO:0011725; OMIM:606785; ORPHA:79235","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":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011725","Disease_Description__c":"A form of Crigler Najjar syndrome (CNS), a rare hereditary disorder of bilirubin metabolism, characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic UDP-glucuronosyltransferase 1A1. The disorder clinically manifests with neonatal, isolated jaundice with a risk of developing bilirubin encephalopathy later in life due to triggers such as stress or infection.","GARD_Name__c":"Crigler-Najjar syndrome, type II","GARD_Synonym__c":"arias syndrome; bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2; bilirubin-ugt deficiency type 2; crigler najjar syndrome, type 2; crigler-najjar syndrome type 2; crigler-najjar syndrome type ii; crigler-najjar type 2; hereditary unconjugated hyperbilirubinemia type 2; hyperbilirubinemia, crigler-najjar type ii; mutation in the udp-glucuronosyl-transferase gene; ugt deficiency type 2","Curated_Disease_Description_Source__c":"GARD:0008683","Curated_Disease_Description__c":"Crigler-Najjar syndrome type 2 (CN-2) is a rare disorder that causes elevated levels of bilirubin in the blood (hyperbilirubinemia). Bilirubin normally is made by the body when old red blood cells are broken down. However, people with CN-2 develop hyperbilirubinemia even when red blood cells are not excessively broken down, because they have too little of a liver enzyme needed for conversion and excretion of bilirubin. The main symptom of CN-2 is persistent jaundice, which is yellowing of the skin, mucous membranes and whites of the eyes. Jaundice may become noticeable in infancy (particularly when an infant is sick or has not eaten for an extended time), but some people with CN-2 are not diagnosed until adulthood. Rarely, a person with CN-2 may develop bilirubin encephalopathy (also called kernicterus), especially during illness, prolonged fasting, or while under anesthesia. CN-2 is caused by genetic changes in the UGT1A1 gene and inheritance is autosomal recessive. Of note, genetic changes in the UGT1A1 gene can alternatively cause other disorders, such as Crigler-Najjar syndrome type 1 (CN-1) and Gilbert syndrome. Genetic testing to identify the specific genetic change present is sometimes needed for the correct diagnosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:79235","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011725","ORPHANET_ID__c":"ORPHA:79235","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de crigler-najjar tipo 2","Spanish_Description_Source__c":"ORPHA:79235","Spanish_Description__c":"Es una forma del síndrome de Crigler Najjar (SCN), un trastorno hereditario poco frecuente del metabolismo de la bilirrubina caracterizado por hiperbilirrubinemia no conjugada debido a una actividad reducida e inducible de la UDP-glucuronosiltransferasa 1A1 hepática. El trastorno se manifiesta clínicamente con ictericia neonatal aislada con riesgo de desarrollar encefalopatía por bilirrubina posteriormente debido a factores desencadenantes como el estrés o la infección.","Spanish_Disease_Name__c":"síndrome de crigler-najjar tipo 2","Spanish_GARD_Synonym__c":"deficiencia de bilirrubina uridinadifosfato glucuronosiltransferasa tipo 2; deficiencia de bilirrubina-ugt tipo 2","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":"Crigler-Najjar syndrome type 2 (CN-2) is a rare disorder that causes elevated levels of bilirubin in the blood (hyperbilirubinemia). Bilirubin normally is made by the body when old red blood cells are broken down. However, people with CN-2 develop hyperbilirubinemia even when red blood cells are not excessively broken down, because they have too little of a liver enzyme needed for conversion and excretion of bilirubin. The main symptom of CN-2 is persistent jaundice, which is yellowing of the skin, mucous membranes and whites of the eyes. Jaundice may become noticeable in infancy (particularly when an infant is sick or has not eaten for an extended time), but some people with CN-2 are not diagnosed until adulthood. Rarely, a person with CN-2 may develop bilirubin encephalopathy (also called kernicterus), especially during illness, prolonged fasting, or while under anesthesia. CN-2 is caused by genetic changes in the UGT1A1 gene and inheritance is autosomal recessive. Of note, genetic changes in the UGT1A1 gene can alternatively cause other disorders, such as Crigler-Najjar syndrome type 1 (CN-1) and Gilbert syndrome. Genetic testing to identify the specific genetic change present is sometimes needed for the correct diagnosis.","Curated_Disease_Description_Source__c":"GARD:0008683","GARD_Synonym__c":"arias syndrome; bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2; bilirubin-ugt deficiency type 2; crigler najjar syndrome, type 2; crigler-najjar syndrome type 2; crigler-najjar syndrome type ii; crigler-najjar type 2; hereditary unconjugated hyperbilirubinemia type 2; hyperbilirubinemia, crigler-najjar type ii; mutation in the udp-glucuronosyl-transferase gene; ugt deficiency type 2","Name":"Crigler-Najjar syndrome, type II","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Liver Disease Foundation","Website__c":"https://childliverdisease.org/"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"The Crigler Najjar Association (USA)","Website__c":"https://5ca4c39e1bb22.site123.me/"},{"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":"Neonatal","Provided_By__c":"ORPHA:79235"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79235"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2931132"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008683","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536213","Source__c":"MONDO:0011725","Xref__c":"C536213"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931132","Source__c":"C2931132","Xref__c":"C2931132"},{"URL__c":"https://www.omim.org/entry/606785","Source__c":"C2931132; MONDO:0011725; ORPHA:79235","Xref__c":"OMIM:606785"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=68067009","Source__c":"C2931132; MONDO:0011725","Xref__c":"68067009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419718","Source__c":"C2931132","Xref__c":"MEDGEN:419718"},{"URL__c":"https://www.orpha.net/en/disease/detail/79235","Source__c":"C2931132; MONDO:0011725; ORPHA:79235","Xref__c":"ORPHA:79235"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011725","Source__c":"GARD:0008683","Xref__c":"MONDO:0011725"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"UGT1A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ugt1a1","Gene_Type__c":"other","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79235","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hyperbilirubinemia with neonatal onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003265","HPO_Synonym__c":"High blood bilirubin levels in neonate; Hyperbilirubinemia, neonatal","HPO_Name__c":"Neonatal hyperbilirubinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79235","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased amount of unconjugated (indirect) bilurubin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008282","HPO_Name__c":"Unconjugated hyperbilirubinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79235","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006579","HPO_Synonym__c":"Neonatal jaundice; Prolonged yellowing of skin in newborn","HPO_Name__c":"Prolonged neonatal 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","Pediatrics"]},"synonyms":["arias syndrome"," bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2"," bilirubin-ugt deficiency type 2"," crigler najjar syndrome, type 2"," crigler-najjar syndrome type 2"," crigler-najjar syndrome type ii"," crigler-najjar type 2"," hereditary unconjugated hyperbilirubinemia type 2"," hyperbilirubinemia, crigler-najjar type ii"," mutation in the udp-glucuronosyl-transferase gene"," ugt deficiency type 2"]}