Chronic bilirubin encephalopathy

Summary

Chronic bilirubin encephalopathy (MONDO:0035345) is a disease and 1 clinical trial. A subtype of toxic encephalopathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Canada) [Orphanet-validated]
• Phenotypes (HPO): 21
• Clinical trials: 1

Clinical features

Epidemiology

Prevalence records

3 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Prevalence at birth	1-9 / 100 000	1.49	Canada	Validated
Prevalence at birth	1-9 / 100 000	1.4	Denmark	Validated
Prevalence at birth	1-9 / 100 000	1	United States	Validated

Signs & symptoms

Clinical features (HPO)

21 HPO clinical features (Orphanet curated; top 21 by frequency):

HPO ID	Term	Frequency
HP:0002480	Hepatic encephalopathy	Very frequent (80-99%)
HP:0003265	Neonatal hyperbilirubinemia	Very frequent (80-99%)
HP:0006579	Prolonged neonatal jaundice	Very frequent (80-99%)
HP:0006958	Abnormal auditory evoked potentials	Very frequent (80-99%)
HP:0000407	Sensorineural hearing impairment	Frequent (30-79%)
HP:0000502	Abnormal conjunctiva morphology	Frequent (30-79%)
HP:0001249	Intellectual disability	Frequent (30-79%)
HP:0001250	Seizure	Frequent (30-79%)
HP:0001276	Hypertonia	Frequent (30-79%)
HP:0001343	Kernicterus	Frequent (30-79%)
HP:0001878	Hemolytic anemia	Frequent (30-79%)
HP:0001945	Fever	Frequent (30-79%)
HP:0002871	Central apnea	Frequent (30-79%)
HP:0003073	Hypoalbuminemia	Frequent (30-79%)
HP:0011968	Feeding difficulties	Frequent (30-79%)
HP:0012696	Abnormal thalamic MRI signal intensity	Frequent (30-79%)
HP:0032106	Conjunctival icterus	Frequent (30-79%)
HP:0100021	Cerebral palsy	Frequent (30-79%)
HP:0003228	Hypernatremia	Occasional (5-29%)
HP:0025518	Visual gaze preference	Occasional (5-29%)
HP:0040187	Neonatal sepsis	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	chronic bilirubin encephalopathy
Mondo ID	MONDO:0035345
Orphanet	529808
UMLS	C5575229
MedGen	1806573
GARD	0022198
Is cancer (heuristic)	no

Also known as: Bilirubin-induced neurological dysfunction · BIND · CBE · Kernicterus spectrum disorder · KSD

Disease family

This is a subtype of toxic encephalopathy. 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 › toxic encephalopathy › chronic bilirubin encephalopathy

Related subtypes (4): hepatic encephalopathy, carbon monoxide-induced delayed encephalopathy, manganese poisoning, Minamata disease

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

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02612207	Not specified	COMPLETED	Point-of-Care System for Determination of Bilirubin Capacity in Neonates