{"Name":"Crigler-Najjar syndrome type 1","DiseaseID__c":"GARD:0000047","id":47,"encodedName":"crigler-najjar-syndrome-type-1","IsDeleted":false,"Disease_Name_Full__c":"Crigler-Najjar syndrome type 1","Xref_IDs__c":"8933000; C0010324; MEDGEN:41346; MONDO:0021020; OMIM:218800; ORPHA:79234","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":1,"Description_Source__c":"MONDO:0021020","Disease_Description__c":"A form of Crigler Najjar syndrome (CNS), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic UDP-glucuronosyltransferase 1A1. The disorder clinically manifests with neonatal, isolated, severe and permanent jaundice with a permanent risk of bilirubin encephalopathy.","GARD_Name__c":"Crigler-Najjar syndrome type 1","GARD_Synonym__c":"bilirubin glucuronosyltransferase deficiency; bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1; bilirubin-ugt deficiency type 1; crigler-najjar syndrome type i; crigler-najjar syndrome, type 1; crigler-najjar syndrome, type i; crigler-najjar type 1; deficiency of glucuronosyltransferase; glucuronyltransferase deficiency; hereditary unconjugated hyperbilirubinemia type 1; hyperbilirubinemia, crigler-najjar type 1; hyperbilirubinemia, crigler-najjar type i; udp glucuronyl transferase deficiency; ugt deficiency type 1","Curated_Disease_Description_Source__c":"GARD:0000047","Curated_Disease_Description__c":"Crigler Najjar syndrome, type 1 is an inherited disorder in which bilirubin, a substance made by the liver, cannot be broken down. This condition occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly. Without this enzyme, bilirubin can build up in the body and lead to jaundice and damage to the brain, muscles, and nerves. Crigler Najjar syndrome, type 1 is caused by genetic changes in the UGT1A1 gene. The condition is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:79234","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0021020","ORPHANET_ID__c":"ORPHA:79234","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de crigler-najjar tipo 1","Spanish_Description_Source__c":"ORPHA:79234","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 la ausencia total de UDP-glucuronosiltransferasa 1A1 hepática. El trastorno se manifiesta clínicamente con ictericia neonatal aislada, grave y permanente con riesgo de desarrollar encefalopatía por bilirrubina.","Spanish_Disease_Name__c":"síndrome de crigler-najjar tipo 1","Spanish_GARD_Synonym__c":"deficiencia de bilirrubina uridinadifosfato glucuronosiltransferasa tipo 1; deficiencia de bilirrubina-ugt tipo 1","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 1 is an inherited disorder in which bilirubin, a substance made by the liver, cannot be broken down. This condition occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly. Without this enzyme, bilirubin can build up in the body and lead to jaundice and damage to the brain, muscles, and nerves. Crigler Najjar syndrome, type 1 is caused by genetic changes in the UGT1A1 gene. The condition is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0000047","GARD_Synonym__c":"bilirubin glucuronosyltransferase deficiency; bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1; bilirubin-ugt deficiency type 1; crigler-najjar syndrome type i; crigler-najjar syndrome, type 1; crigler-najjar syndrome, type i; crigler-najjar type 1; deficiency of glucuronosyltransferase; glucuronyltransferase deficiency; hereditary unconjugated hyperbilirubinemia type 1; hyperbilirubinemia, crigler-najjar type 1; hyperbilirubinemia, crigler-najjar type i; udp glucuronyl transferase deficiency; ugt deficiency type 1","Name":"Crigler-Najjar syndrome type 1","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:79234"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000047","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0010324","Source__c":"C0010324","Xref__c":"C0010324"},{"URL__c":"https://www.orpha.net/en/disease/detail/79234","Source__c":"C0010324; MONDO:0021020; ORPHA:79234","Xref__c":"ORPHA:79234"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=41346","Source__c":"C0010324","Xref__c":"MEDGEN:41346"},{"URL__c":"https://www.omim.org/entry/218800","Source__c":"C0010324; MONDO:0021020; ORPHA:79234","Xref__c":"OMIM:218800"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=8933000","Source__c":"C0010324; MONDO:0021020","Xref__c":"8933000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0021020","Source__c":"GARD:0000047","Xref__c":"MONDO:0021020"}],"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:79234","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79234","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:79234","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:79234","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012246","HPO_Name__c":"Oculomotor nerve palsy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79234","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"}},{"Provided_By__c":"ORPHA:79234","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:79234","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A degree of language development that is significantly below the norm for a child of a specified age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000750","HPO_Synonym__c":"Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay","HPO_Name__c":"Delayed speech and language development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79234","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002354","HPO_Synonym__c":"Amnesia; Forgetfulness; Memory impairment; Memory loss; Memory problems; Poor memory","HPO_Name__c":"Memory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79234","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79234","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:79234","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79234","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79234","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001343","HPO_Name__c":"Kernicterus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79234","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Floppiness/hypotonia is defined as reduced resistance to passive movement of joints. Physical examination of floppy/hypotonic infants shows head lag, lack of shoulder and elbow muscle contraction on traction response, inability to tighten the shoulder girdle muscles (or slipping through) when held under the axillae, scarf sign (when the arm is pulled to the opposite side, the arm wraps around the neck with the elbow crossing midline), hyperdorsiflexion of the feet, easy apposition of the thumb against the forearm, feet touching the cheek with ease and without discomfort, frog leg position, and inverted U sign on ventral suspension (head, arms, and legs hanging down without elbow or knee flexion and the trunk rounded in a dome shape).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008947","HPO_Synonym__c":"Decreased muscle tone in infant; Hypotonia early; Hypotonia in infancy; Hypotonia, early; Infantile hypotonia; Infantile muscular hypotonia","HPO_Name__c":"Floppy infant","Feature_System__c":"Musculoskeletal 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":["bilirubin glucuronosyltransferase deficiency"," bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1"," bilirubin-ugt deficiency type 1"," crigler-najjar syndrome type i"," crigler-najjar syndrome, type 1"," crigler-najjar syndrome, type i"," crigler-najjar type 1"," deficiency of glucuronosyltransferase"," glucuronyltransferase deficiency"," hereditary unconjugated hyperbilirubinemia type 1"," hyperbilirubinemia, crigler-najjar type 1"," hyperbilirubinemia, crigler-najjar type i"," udp glucuronyl transferase deficiency"," ugt deficiency type 1"]}