Bilirubin encephalopathy

Summary

Bilirubin encephalopathy (MONDO:0018477) is a disease and 8 clinical trials. A subtype of brain disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Clinical trials: 8

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	bilirubin encephalopathy
Mondo ID	MONDO:0018477
MeSH	D007647
Orphanet	415286
DOID	DOID:2382
ICD-10-CM	P57
NCIT	C84799
SNOMED CT	50143004
UMLS	C0022610
MedGen	44018
GARD	0006830
MedDRA	10023376
Is cancer (heuristic)	no

Also known as: bilirubin encephalopathy · hyperbilirubinemic encephalopathy · kernicterus

Disease family

This is a subtype of brain disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › brain disorder › bilirubin encephalopathy

Related subtypes (70): leukoencephalopathy, megalencephalic, encephalopathy, acute, infection-induced, diabetic encephalopathy, complex cortical dysplasia with other brain malformations, hydrocephalus, brain compression, cerebral sarcoidosis, hepatic encephalopathy, visual pathway disorder, central nervous system origin vertigo, cerebellar disorder, cerebritis, olfactory nerve disorder, thalamic disorder, pituitary gland disorder, disorder of optic chiasm, basal ganglia disorder, epilepsy, mental disorder, central nervous system cyst, migraine disorder, multiple sclerosis, prion disease, carbon monoxide-induced delayed encephalopathy, cerebral malaria, akinetic mutism, bulbar polio, Reye syndrome, brain edema, encephalomalacia, intracranial hypertension, intracranial hypotension, Wernicke encephalopathy, encephalopathy, recurrent, of childhood, XK aprosencephaly, progressive bulbar palsy, cerebrovascular disorder, glycine encephalopathy, autosomal recessive frontotemporal pachygyria, occipital pachygyria and polymicrogyria, insomnia, narcolepsy-cataplexy syndrome, megalencephaly, meningoencephalocele, cerebral cortical dysplasia, encephaloclastic disorder, autoimmune encephalopathy with parasomnia and obstructive sleep apnea, narcolepsy without cataplexy, hypothalamic hamartomas with gelastic seizures, encephalitis, cerebral lipidosis with dementia, brain neoplasm, colpocephaly, corpus callosum agenesis of blepharophimosis robin type, corpus callosum dysgenesis X-linked recessive, corpus callosum dysgenesis cleft spasm, corpus callosum dysgenesis hypopituitarism, cerebral degeneration, acute bilirubin encephalopathy, chronic bilirubin encephalopathy, atelencephaly, aprosencephaly, brain injury, traumatic encephalopathy, cluster headache syndrome, cerebral cortex disorder, midbrain disorder, encephalopathy due to mitochondrial and peroxisomal fission defect, brain malformations with or without urinary tract defects, encephalopathy, acute transient

Subtypes (1): kernicterus due to isoimmunization

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

Drugs indicated for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Soybean Oil.

Clinical trials & evidence

Clinical trials

Clinical trials: 8.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	7
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04584983	PHASE2	ACTIVE_NOT_RECRUITING	Bilirubin Neurotoxicity (BN) and Neurodevelopmental Impairment (NDI) in Extremely Preterm (EP) Infants: Avoidable by Reducing the Usual Intravenous Lipid (UL) Administration
NCT01754688	Not specified	COMPLETED	Determining Prevalence of Acute Bilirubin Encephalopathy in Developing Countries
NCT02691156	Not specified	COMPLETED	Bilirubin Binding Capacity to Assess Bilirubin Load in Preterm Infants
NCT02713464	Not specified	COMPLETED	Does Maternal Instruction Prevent Kernicterus in Nigeria?
NCT03195049	Not specified	UNKNOWN	Complications of Exchange Transfusion in Neonates
NCT03527498	Not specified	WITHDRAWN	Evaluation of Long-term Neurodevelopment in Neonatal Encephalopathy by Infant Treadmill
NCT03534466	Not specified	TERMINATED	Evaluation of Long-Term Gait Development in Infants With Neonatal Encephalopathy Using Infant Treadmill
NCT06058910	Not specified	COMPLETED	Bilistick Point-of-care System 2.0 Bilirubin Validation