Fanconi-Bickel syndrome
ORPHA:2088DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)31
Очень частый (80–99%)8
HP:0001508Failure to thrive
HP:0001947Renal tubular acidosis
HP:0002148Hypophosphatemia
HP:0003109Hyperphosphaturia
HP:0004919Galactose intolerance
HP:0006568Increased hepatic glycogen content
HP:0040270Impaired glucose tolerance
HP:0500030Abnormal hepatic glycogen storage
Частый (30–79%)9
HP:0001510Growth delay
HP:0001942Metabolic acidosis
HP:0002150Hypercalciuria
HP:0002240Hepatomegaly
HP:0002748Rickets
HP:0003076Glycosuria
HP:0003162Fasting hypoglycemia
HP:0003270Abdominal distention
HP:0011998Postprandial hyperglycemia
Периодический (5–29%)12
HP:0000112Nephropathy
HP:0000121Nephrocalcinosis
HP:0000819Diabetes mellitus
HP:0000938Osteopenia
HP:0001399Hepatic failure
HP:0002155Hypertriglyceridemia
HP:0002909Generalized aminoaciduria
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0006487Bowing of the long bones
HP:0020110Bone fracture
HP:0031956Elevated circulating aspartate aminotransferase concentration
HP:0031964Elevated circulating alanine aminotransferase concentration
Очень редкий (1–4%)2
HP:0000295Doll-like facies
HP:0001402Hepatocellular carcinoma
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 200 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 | Israel | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)