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Term ID: | 6087 |
Name: | Kernicterus |
Definition: | A term used pathologically to describe BILIRUBIN staining of the BASAL GANGLIA; BRAIN STEM; and CEREBELLUM and clinically to describe a syndrome associated with HYPERBILIRUBINEMIA. Clinical features include athetosis, MUSCLE SPASTICITY or hypotonia, impaired vertical gaze, and DEAFNESS. Nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that impair the BLOOD-BRAIN BARRIER (e.g., SEPSIS). This condition occurs primarily in neonates (INFANT, NEWBORN), but may rarely occur in adults. (Menkes, Textbook of Child Neurology, 5th ed, p613) |
Alternative IDs: | |
ParentIDs: | MESH:D001928|MESH:D004899|MESH:D006932 |
TreeNumbers: | C10.228.140.163.480 |C15.378.295.502 |C16.614.304.502 |C18.452.132.480 |C20.306.502 |C23.550.429.750 |
Synonyms: | Bilirubin Encephalopathies |Bilirubin Encephalopathy |Encephalopathies, Bilirubin |Encephalopathies, Hyperbilirubinemic |Encephalopathy, Bilirubin |Encephalopathy, Hyperbilirubinemic |Hyperbilirubinemic Encephalopathies |Hyperbilirubinemic Encephalopathy |
Slim Mappings: | Blood disease|Immune system disease|Infant-newborn disease|Metabolic disease|Nervous system disease|Pathology (process) |
Reference: |
MedGen: D007647
MeSH: D007647
OMIM:
Genes: | Phenotypes | | Disease Causing ClinVar Variants | |
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