{"Name":"Chronic bilirubin encephalopathy","DiseaseID__c":"GARD:0022198","id":22198,"encodedName":"chronic-bilirubin-encephalopathy","IsDeleted":false,"Disease_Name_Full__c":"Chronic bilirubin encephalopathy","Xref_IDs__c":"1197758001; C5575229; MEDGEN:1806573; MONDO:0035345; ORPHA:529808","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0035345","Disease_Description__c":"A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.","GARD_Name__c":"Chronic bilirubin encephalopathy","GARD_Synonym__c":"bilirubin-induced neurological dysfunction; bind; bind - bilirubin-induced neurological dysfunction; cbe; kernicterus spectrum disorder; ksd","Curated_Disease_Description_Source__c":"MONDO:0035345","Curated_Disease_Description__c":"A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:529808","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0035345","ORPHANET_ID__c":"ORPHA:529808","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Encefalopatía crónica por bilirrubina","Spanish_Description_Source__c":"ORPHA:529808","Spanish_Description__c":"Es una enfermedad neurológica poco frecuente caracterizada por las secuelas crónicas producidas por la toxicidad de la bilirrubina en el globo pálido, en los núcleos subtalámicos y en otras regiones del cerebro, después de la exposición a niveles elevados de bilirrubina no conjugada en el período neonatal. Los síntomas debutan después de la fase aguda de la encefalopatía por bilirrubina en el primer año de vida, evolucionan lentamente durante varios años e incluyen alteraciones extrapiramidales de leves a graves (especialmente distonía y atetosis), trastorno del espectro de la neuropatía auditiva y anomalías oculomotoras y dentales.","Spanish_Disease_Name__c":"encefalopatía crónica por bilirrubina","Spanish_GARD_Synonym__c":"bind; cbe; disfunción neurológica inducida por bilirrubina; encefalopatía bilirrubínica crónica; ksd; trastorno del espectro del 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":"A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.","Curated_Disease_Description_Source__c":"MONDO:0035345","GARD_Synonym__c":"bilirubin-induced neurological dysfunction; bind; bind - bilirubin-induced neurological dysfunction; cbe; kernicterus spectrum disorder; ksd","Name":"Chronic bilirubin encephalopathy","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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":"Infancy","Provided_By__c":"ORPHA:529808"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:529808"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5575229","Source__c":"C5575229","Xref__c":"C5575229"},{"URL__c":"https://www.orpha.net/en/disease/detail/529808","Source__c":"C5575229; MONDO:0035345; ORPHA:529808","Xref__c":"ORPHA:529808"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1806573","Source__c":"C5575229","Xref__c":"MEDGEN:1806573"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1197758001","Source__c":"C5575229","Xref__c":"1197758001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0035345","Source__c":"GARD:0022198","Xref__c":"MONDO:0035345"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:529808","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased sodium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003228","HPO_Synonym__c":"High blood sodium levels","HPO_Name__c":"Hypernatremia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:529808","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100021","HPO_Synonym__c":"Cerebral paralysis; CP","HPO_Name__c":"Cerebral palsy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:529808","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:529808","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the conjunctiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000502","HPO_Name__c":"Abnormal conjunctiva morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:529808","HPO_Frequency__c":"Frequent (30-79%)","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:529808","HPO_Frequency__c":"Frequent (30-79%)","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:529808","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002871","HPO_Synonym__c":"Central apnoea","HPO_Name__c":"Central apnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:529808","HPO_Frequency__c":"Frequent (30-79%)","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:529808","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012696","HPO_Name__c":"Abnormal thalamic MRI signal intensity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"ORPHA:529808","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of anemia caused by premature destruction of red blood cells (hemolysis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001878","HPO_Synonym__c":"Haemolytic anemia; Increased hemolysis","HPO_Name__c":"Hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:529808","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001276","HPO_Synonym__c":"Hypertonicity; Increased muscle tone","HPO_Name__c":"Hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:529808","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:529808","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of albumin in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003073","HPO_Synonym__c":"Decreased albumin concentration; Decreased albumin level; Decreased albumin level in blood; Decreased circulating abumin concentration; Hypoalbuminaemia; Hypoalbuminemia; Low blood albumin; Reduced albumin concentration; Reduced albumin level; Reduced albumin level in blood","HPO_Name__c":"Hypoalbuminemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:529808","HPO_Frequency__c":"Frequent (30-79%)","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:529808","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:529808","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006958","HPO_Synonym__c":"Abnormal brainstem auditory-evoked potentials","HPO_Name__c":"Abnormal auditory evoked potentials","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:529808","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002480","HPO_Name__c":"Hepatic encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:529808","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:529808","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025518","HPO_Name__c":"Visual gaze preference","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:529808","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Systemic inflammatory response to infection in newborn babies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040187","HPO_Name__c":"Neonatal sepsis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:529808","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":["bilirubin-induced neurological dysfunction"," bind"," bind - bilirubin-induced neurological dysfunction"," cbe"," kernicterus spectrum disorder"," ksd"]}