Chronic bilirubin encephalopathy
ORPHA:529808Clinical syndromeNot applicableInfancy, Neonatal
Фенотипы (HPO)21
Очень частый (80–99%)4
HP:0002480Hepatic encephalopathy
HP:0003265Neonatal hyperbilirubinemia
HP:0006579Prolonged neonatal jaundice
HP:0006958Abnormal auditory evoked potentials
Частый (30–79%)14
HP:0000407Sensorineural hearing impairment
HP:0000502Abnormal conjunctiva morphology
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001276Hypertonia
HP:0001343Kernicterus
HP:0001878Hemolytic anemia
HP:0001945Fever
HP:0002871Central apnea
HP:0003073Hypoalbuminemia
HP:0011968Feeding difficulties
HP:0012696Abnormal thalamic MRI signal intensity
HP:0032106Conjunctival icterus
HP:0100021Cerebral palsy
Периодический (5–29%)3
HP:0003228Hypernatremia
HP:0025518Visual gaze preference
HP:0040187Neonatal sepsis
Эпидемиология6
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Canada | Class only |
| Point prevalence | Unknown | — | Denmark | Class only |
| Point prevalence | Unknown | — | United States | Class only |
| Prevalence at birth | 1-9 / 100 000 | 1.49 | Canada | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.4 | Denmark | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)