Congenital bile acid synthesis defect type 4
ORPHA:79095DiseaseAutosomal recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)27
Очень частый (80–99%)1
HP:0012379Abnormal enzyme/coenzyme activity
Частый (30–79%)5
HP:0000580Pigmentary retinopathy
HP:0001250Seizure
HP:0001298Encephalopathy
HP:0001328Specific learning disability
HP:0007141Sensorimotor neuropathy
Периодический (5–29%)21
HP:0003236Elevated circulating creatine kinase concentration
HP:0005978Type II diabetes mellitus
HP:0011892Low levels of vitamin K
HP:0030516Homonymous hemianopia
HP:0100753Schizophrenia
HP:0200084Giant cell hepatitis
HP:0000135Hypogonadism
HP:0000518Cataract
HP:0000716Depression
HP:0000763Sensory neuropathy
HP:0001081Cholelithiasis
HP:0001251Ataxia
HP:0001268Mental deterioration
HP:0001337Tremor
HP:0002076Migraine
HP:0002354Memory impairment
HP:0002401Stroke-like episode
HP:0002573Hematochezia
HP:0002611Cholestatic liver disease
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003201Rhabdomyolysis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)