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Diseases

Kernicterus

kernicterus

Entity Type
Diseases
Relation Groups
1
Relation Preview
8

Basic Information

Grouped by core information, identifiers, and descriptions.

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Core Information

Disease Name
Kernicterus
Standard Disease Name
kernicterus
MeSH Tree
No data
ICD-10
P57|P57.9

Identifiers

DO ID
No data
MeSH ID
D007647
OMIM ID
MTHU037351|MTHU037352
UMLS ID
C0022610
HPO ID
No data

Description and Extensions

Description
NCI2016_NICHD_1602D:A condition characterized by sensorineural hearing impairment, choreoathetoid movements, paralysis of upward gaze and hypoplasia of dental enamel due bilirubin deposition in the grey matter of the central nervous system as a consequence of increased levels of unconjugated bilirubin in the serum.|NCI2016_02D:A rare neurologic disorder occurring in infants with jaundice. It results from brain damage by existing high levels of unconjugated-indirect bilirubin.|MSH2017_2016_08_12: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)|HPO2016_07_04: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:probinson]|CSP2006:brain disorder associated with high levels of bilrubin; 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; this condition occurs primarily in neonates with perinatal blood incompatibilities, but may rarely occur in adults.
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease8 Targets
01
ABCB1
ATP binding cassette subfamily B member 1
ATP binding cassette subfamily B member 1
02
ABCC1
ATP binding cassette subfamily C member 1
ATP binding cassette subfamily C member 1
08
UGT1A8
UDP glucuronosyltransferase family 1 member A8
UDP glucuronosyltransferase family 1 member A8