Alagille syndrome
ORPHA:52Malformation syndromeAutosomal dominantAll ages
Фенотипы (HPO)43
Очень частый (80–99%)6
HP:0001131Corneal dystrophy
HP:0001396Cholestasis
HP:0001508Failure to thrive
HP:0001629Ventricular septal defect
HP:0002240Hepatomegaly
HP:0006571Reduced number of intrahepatic bile ducts
Частый (30–79%)12
HP:0000280Coarse facial features
HP:0000307Pointed chin
HP:0000311Round face
HP:0000411Protruding ear
HP:0001511Intrauterine growth retardation
HP:0002007Frontal bossing
HP:0003189Long nose
HP:0003298Spina bifida occulta
HP:0003312Abnormal form of the vertebral bodies
HP:0003422Vertebral segmentation defect
HP:0004617Butterfly vertebral arch
HP:0100585Telangiectasia of the skin
Периодический (5–29%)25
HP:0000028Cryptorchidism
HP:0000069Abnormality of the ureter
HP:0000100Nephrotic syndrome
HP:0000248Brachycephaly
HP:0000316Hypertelorism
HP:0000322Short philtrum
HP:0000347Micrognathia
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000494Downslanted palpebral fissures
HP:0000563Keratoconus
HP:0000615Abnormal pupil morphology
HP:0000772Abnormal rib morphology
HP:0000822Hypertension
HP:0000823Delayed puberty
HP:0001256Intellectual disability, mild
HP:0001328Specific learning disability
HP:0001631Atrial septal defect
HP:0002750Delayed skeletal maturation
HP:0003022Hypoplasia of the ulna
HP:0004209Clinodactyly of the 5th finger
HP:0004969Peripheral pulmonary artery stenosis
HP:0008678Renal hypoplasia/aplasia
HP:0009882Short distal phalanx of finger
HP:0012368Flat face
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.4 | Australia | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Australia | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.8 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.7 | United States | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)