Senior-Boichis syndrome
ORPHA:84081DiseaseAutosomal recessiveAll ages
Ассоциированные гены2
Фенотипы (HPO)34
Частый (30–79%)20
HP:0000089Renal hypoplasia
HP:0000108Renal corticomedullary cysts
HP:0000822Hypertension
HP:0001395Hepatic fibrosis
HP:0001396Cholestasis
HP:0001409Portal hypertension
HP:0001433Hepatosplenomegaly
HP:0001959Polydipsia
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0003573Increased total bilirubin
HP:0004719Hyperechogenic kidneys
HP:0005565Reduced renal corticomedullary differentiation
HP:0006563Malformation of the hepatic ductal plate
HP:0006571Reduced number of intrahepatic bile ducts
HP:0012591Abnormal urinary electrolyte concentration
HP:0012622Chronic kidney disease
HP:0020132Thickening of the tubular basement membrane
HP:0032581Abnormal renal insterstitial morphology
HP:0032622Tubular luminal dilatation
Периодический (5–29%)14
HP:0000713Agitation
HP:0000718Aggressive behavior
HP:0001394Cirrhosis
HP:0001541Ascites
HP:0001903Anemia
HP:0002040Esophageal varix
HP:0002500Abnormal cerebral white matter morphology
HP:0002506Diffuse cerebral atrophy
HP:0002612Congenital hepatic fibrosis
HP:0003774Stage 5 chronic kidney disease
HP:0007018Attention deficit hyperactivity disorder
HP:0012163Carotid artery dilatation
HP:0012585Renal atrophy
HP:0031589Suicidal ideation
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)