Congenital hyperinsulinism due to HNF4A deficiency
ORPHA:263455DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)21
HP:0000713Agitation
HP:0000825Hyperinsulinemic hypoglycemia
HP:0000842Hyperinsulinemia
HP:0000975Hyperhidrosis
HP:0000980Pallor
HP:0001254Lethargy
HP:0001259Coma
HP:0001319Neonatal hypotonia
HP:0001337Tremor
HP:0002240Hepatomegaly
HP:0001520Large for gestational age
HP:0001649Tachycardia
HP:0001985Hypoketotic hypoglycemia
HP:0001998Neonatal hypoglycemia
HP:0002329Drowsiness
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003162Fasting hypoglycemia
HP:0004324Increased body weight
HP:0004359Abnormal circulating fatty-acid concentration
HP:0004510Pancreatic islet-cell hyperplasia
HP:0012378Fatigue
Частый (30–79%)12
HP:0000093Proteinuria
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001994Renal Fanconi syndrome
HP:0002013Vomiting
HP:0002014Diarrhea
HP:0002344Progressive neurologic deterioration
HP:0003076Glycosuria
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0004912Hypophosphatemic rickets
HP:0005979Metabolic ketoacidosis
HP:0006568Increased hepatic glycogen content
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)