Lysosomal acid lipase deficiency
ORPHA:275761DiseaseAutosomal recessiveAdolescent, Adult, Childhood, Infancy, Neonatal
Фенотипы (HPO)49
Очень частый (80–99%)19
HP:0000952Jaundice
HP:0000991Xanthomatosis
HP:0001395Hepatic fibrosis
HP:0001399Hepatic failure
HP:0001410Decreased liver function
HP:0001414Microvesicular hepatic steatosis
HP:0001433Hepatosplenomegaly
HP:0001922Vacuolated lymphocytes
HP:0002017Nausea and vomiting
HP:0002027Abdominal pain
HP:0002155Hypertriglyceridemia
HP:0002570Steatorrhea
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003124Hypercholesterolemia
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0003270Abdominal distention
HP:0006583Fatal liver failure in infancy
HP:0010512Adrenal calcification
HP:0100543Cognitive impairment
Частый (30–79%)7
HP:0001114Xanthelasma
HP:0001297Stroke
HP:0001824Weight loss
HP:0002014Diarrhea
HP:0002040Esophageal varix
HP:0004416Precocious atherosclerosis
HP:0001677Coronaryartery atherosclerosis
Периодический (5–29%)23
HP:0000127Renal salt wasting
HP:0008207Primary adrenal insufficiency
HP:0000989Pruritus
HP:0001263Global developmental delay
HP:0001508Failure to thrive
HP:0001541Ascites
HP:0001903Anemia
HP:0001941Acidosis
HP:0001944Dehydration
HP:0001971Hypersplenism
HP:0002013Vomiting
HP:0002092Pulmonary arterial hypertension
HP:0002153Hyperkalemia
HP:0002361Psychomotor deterioration
HP:0002615Hypotension
HP:0002902Hyponatremia
HP:0012605Hypernatriuria
HP:0004326Cachexia
HP:0004333Bone-marrow foam cells
HP:0004395Malnutrition
HP:0011106Hypovolemia
HP:0011968Feeding difficulties
HP:0012598Abnormal urine potassium concentration
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.27 | Czech Republic | Value and class |
| Point prevalence | 1-9 / 100 000 | 2 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)