Chronic bilirubin encephalopathy
Synonyms: BIND · Bilirubin-induced neurological dysfunction · CBE · KSD · Kernicterus spectrum disorder
- Type
- Clinical syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chronic bilirubin encephalopathy | BIND · Bilirubin-induced neurological dysfunction · CBE · KSD · Kernicterus spectrum disorder |
| fr | Encéphalopathie bilirubinique chronique | Dysfonction neurologique induite par la bilirubine |
| de | Bilirubin-Enzephalopathie, chronische | BIND · Bilirubin-induzierte neurologische Dysfunktion · Kernikterus-Spektrum-Störungen |
| es | Encefalopatía crónica por bilirrubina | Trastorno del espectro del kernícterus · BIND · CBE · Disfunción neurológica inducida por bilirrubina · Encefalopatía bilirrubínica crónica · KSD |
| it | Encefalopatia bilirubinica cronica | |
| nl | Chronische bilirubine-encefalopathie | BIND · Bilirubine-geïnduceerde neurologische disfunctie · CBE · KSS · Kernicterus spectrum stoornis |
| pt | Encefalopatia devido a hiperbilirrubinémia crónica | |
| pl | Przewlekła encefalopatia z bilirubinemią | = en |
| cs | Chronická bilirubinová encefalopatie | CBE · KSD · BIND · Porucha ze spektra jádrového ikteru · Neurologická dysfunkce vyvolaná bilirubinem |
| uk | Хронічна білірубінова енцефалопатія | Неврологічна дисфункція, спричинена білірубіном · BIND · CBE · Порушення спектра Керніктеруса · KSD |
| zh | 慢性胆红素脑病 | 胆红素诱导的神经功能障碍 |
| tr | Kronik bilirubin ensefalopatisi | CBE · KSD · BIND · Kernikterus spektrum bozukluğu · Bilirubin uyarılmış nörolojik disfonksiyon |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | P57.8 | NTBT | attributed | validated |
| ICD-11 | KA86 | NTBT | attributed | validated |
| MONDO | 0035345 | E | validated | |
| UMLS | C5575229 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:415286Bilirubin encephalopathy
rare inborn errors of metabolism; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Canada | Class only | Validated | 22966025[PMID]_ORPHANET |
| Point prevalence | Unknown | — | Denmark | Class only | Validated | 15858962[PMID]_ORPHANET |
| Point prevalence | Unknown | — | United States | Class only | Validated | 15466085[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 1.4 / 100 000 | Denmark | Value and class | Validated | 15858962[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | United States | Value and class | Validated | 15466085[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.49 / 100 000 | Canada | Value and class | Validated | 22966025[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
21 annotations · validated 2019-03-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006958 | Abnormal auditory evoked potentials | |
| HP:0002480 | Hepatic encephalopathy | |
| HP:0003265 | Neonatal hyperbilirubinemia | |
| HP:0006579 | Prolonged neonatal jaundice | |
| Frequent (79-30%) | ||
| HP:0000502 | Abnormal conjunctiva morphology | |
| HP:0012696 | Abnormal thalamic MRI signal intensity | |
| HP:0002871 | Central apnea | |
| HP:0100021 | Cerebral palsy | |
| HP:0032106 | Conjunctival icterus | |
| HP:0011968 | Feeding difficulties | |
| HP:0001945 | Fever | |
| HP:0001878 | Hemolytic anemia | |
| HP:0001276 | Hypertonia | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0001249 | Intellectual disability | |
| HP:0001343 | Kernicterus | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| Occasional (29-5%) | ||
| HP:0003228 | Hypernatremia | |
| HP:0040187 | Neonatal sepsis | |
| HP:0025518 | Visual gaze preference | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 20116355[PMID]_20704172[PMID]_20704173[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/529808
- This record as JSON: /data/d/529808.json