Hyperinsulinism due to UCP2 deficiency
ORPHA:276556DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)26
Очень частый (80–99%)7
HP:0000825Hyperinsulinemic hypoglycemia
HP:0001985Hypoketotic hypoglycemia
HP:0001988Recurrent hypoglycemia
HP:0012051Reactive hypoglycemia
HP:0030796Increased C-peptide level
HP:0031084Excessive insulin response to glucagon test
HP:0040299Decreased circulating free fatty acid level
Частый (30–79%)8
HP:0000713Agitation
HP:0000980Pallor
HP:0001069Episodic hyperhidrosis
HP:0001520Large for gestational age
HP:0001649Tachycardia
HP:0001962Palpitations
HP:0002329Drowsiness
HP:0012759Neurodevelopmental abnormality
Периодический (5–29%)11
HP:0001254Lethargy
HP:0001279Syncope
HP:0001325Hypoglycemic coma
HP:0001639Hypertrophic cardiomyopathy
HP:0002133Status epilepticus
HP:0002173Hypoglycemic seizures
HP:0002240Hepatomegaly
HP:0002591Polyphagia
HP:0007185Loss of consciousness
HP:0011968Feeding difficulties
HP:0031224Diffuse pancreatic islet hyperplasia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)