{"Name":"Bilirubin encephalopathy","DiseaseID__c":"GARD:0006830","id":6830,"encodedName":"bilirubin-encephalopathy","IsDeleted":false,"Disease_Name_Full__c":"Bilirubin encephalopathy","Xref_IDs__c":"50143004; C0022610; C84799; D007647; DOID:2382; MEDGEN:44018; MONDO:0018477; ORPHA:415286; P57","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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"GARD:0006830","Disease_Description__c":"Kernicterus refers to brain damage that may occur when neonatal jaundice goes untreated for too long. Physiologic neonatal jaundice (which can affect about 60% of all newborn babies) is a very common condition in which the skin and whites of the eyes are yellowish in color within a few days after birth, due to high levels of a yellow pigment (bilirubin) created when the body gets rid of old red blood cells. However, in some babies, bilirubin levels may rise excessively (hyperbilirubinemia), which can damage the brain cells. Risk factors for severe jaundice and higher bilirubin levels include premature birth (before 37 weeks); darker skin color; East Asian or Mediterranean descent; feeding difficulties; jaundice in a sibling; bruising at birth; and a mother with an O blood type or Rh negative blood factor. After a few days of jaundice, toxic levels of bilirubin in certain areas of the brain may cause signs and symptoms such as respiratory distress, muscle spasms, and/or low muscle tone (hypotonia). Other symptoms can develop as the baby gets older, such as delayed motor development, seizures, lack of coordination (ataxia), muscle spasms (dystonia), involuntary movements (athetosis), sensory problems, lack of upward gaze, hearing loss, intellectual disability, and difficulty speaking (dysarthria). The term \"Bilirubin-induced neurologic dysfunction (BIND)\" is used for the signs and symptoms of Kernicterus.","GARD_Name__c":"Bilirubin encephalopathy","GARD_Synonym__c":"hyperbilirubinemic encephalopathy; kernicterus; kernicterus of newborn; nuclear jaundice","Curated_Disease_Description_Source__c":"GARD:0006830","Curated_Disease_Description__c":"Bilirubin encephalopathy refers to brain damage that may occur when neonatal jaundice goes untreated for too long. Physiologic neonatal jaundice (which can affect about 60% of all newborn babies) is a very common condition in which the skin and whites of the eyes are yellowish in color within a few days after birth, due to high levels of a yellow pigment (bilirubin) created when the body gets rid of old red blood cells. However, in some babies, bilirubin levels may rise excessively (hyperbilirubinemia), which can damage the brain cells. Risk factors for severe jaundice and higher bilirubin levels include premature birth (before 37 weeks); darker skin color; East Asian or Mediterranean descent; feeding difficulties; jaundice in a sibling; bruising at birth; and a mother with an O blood type or Rh negative blood factor. After a few days of jaundice, toxic levels of bilirubin in certain areas of the brain may cause signs and symptoms such as respiratory distress, muscle spasms, and/or low muscle tone (hypotonia). Other symptoms can develop as the baby gets older, such as delayed motor development, seizures, lack of coordination (ataxia), muscle spasms (dystonia), involuntary movements (athetosis), sensory problems, lack of upward gaze, hearing loss, intellectual disability, and difficulty speaking (dysarthria). The term \"Bilirubin-induced neurologic dysfunction (BIND)\" is used for the signs and symptoms of Bilirubin encephalopathy.","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:415286","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018477","ORPHANET_ID__c":"ORPHA:415286","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Encefalopatía bilirrubínica","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"encefalopatía bilirrubínica","Spanish_GARD_Synonym__c":"kernícterus","Category_Linearization__c":"ORPHA:98006","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":"Bilirubin encephalopathy refers to brain damage that may occur when neonatal jaundice goes untreated for too long. Physiologic neonatal jaundice (which can affect about 60% of all newborn babies) is a very common condition in which the skin and whites of the eyes are yellowish in color within a few days after birth, due to high levels of a yellow pigment (bilirubin) created when the body gets rid of old red blood cells. However, in some babies, bilirubin levels may rise excessively (hyperbilirubinemia), which can damage the brain cells. Risk factors for severe jaundice and higher bilirubin levels include premature birth (before 37 weeks); darker skin color; East Asian or Mediterranean descent; feeding difficulties; jaundice in a sibling; bruising at birth; and a mother with an O blood type or Rh negative blood factor. After a few days of jaundice, toxic levels of bilirubin in certain areas of the brain may cause signs and symptoms such as respiratory distress, muscle spasms, and/or low muscle tone (hypotonia). Other symptoms can develop as the baby gets older, such as delayed motor development, seizures, lack of coordination (ataxia), muscle spasms (dystonia), involuntary movements (athetosis), sensory problems, lack of upward gaze, hearing loss, intellectual disability, and difficulty speaking (dysarthria). The term \"Bilirubin-induced neurologic dysfunction (BIND)\" is used for the signs and symptoms of Bilirubin encephalopathy.","Curated_Disease_Description_Source__c":"GARD:0006830","GARD_Synonym__c":"hyperbilirubinemic encephalopathy; kernicterus; kernicterus of newborn; nuclear jaundice","Name":"Bilirubin encephalopathy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"g6pd Deficiency Foundation","Website__c":"https://g6pddf.org/"},{"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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:415286"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:415286"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/415286","Source__c":"C0022610; MONDO:0018477; ORPHA:415286","Xref__c":"ORPHA:415286"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=50143004","Source__c":"C0022610; MONDO:0018477","Xref__c":"50143004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C007647","Source__c":"C0022610; MONDO:0018477","Xref__c":"D007647"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84799","Source__c":"C0022610; MONDO:0018477","Xref__c":"C84799"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=44018","Source__c":"C0022610","Xref__c":"MEDGEN:44018"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0022610","Source__c":"C0022610","Xref__c":"C0022610"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2382","Source__c":"MONDO:0018477","Xref__c":"DOID:2382"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001343","Source__c":"C0022610","Xref__c":"HP:0001343"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/P57","Source__c":"MONDO:0018477","Xref__c":"P57"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018477","Source__c":"GARD:0006830","Xref__c":"MONDO:0018477"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=74925009","Source__c":"C0022610","Xref__c":"74925009"}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":["hyperbilirubinemic encephalopathy"," kernicterus"," kernicterus of newborn"," nuclear jaundice"]}