Hereditary fructose intolerance
ORPHA:469DiseaseAutosomal recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)24
Очень частый (80–99%)2
HP:0002027Abdominal pain
HP:0012545Reduced aldolase level
Частый (30–79%)3
HP:0001510Growth delay
HP:0002014Diarrhea
HP:0002018Nausea
Периодический (5–29%)15
HP:0000083Renal insufficiency
HP:0000952Jaundice
HP:0001069Episodic hyperhidrosis
HP:0001942Metabolic acidosis
HP:0002013Vomiting
HP:0002019Constipation
HP:0002148Hypophosphatemia
HP:0002149Hyperuricemia
HP:0002240Hepatomegaly
HP:0002918Hypermagnesemia
HP:0003256Abnormality of the coagulation cascade
HP:0003270Abdominal distention
HP:0012051Reactive hypoglycemia
HP:0012622Chronic kidney disease
HP:0100626Chronic hepatic failure
Очень редкий (1–4%)4
HP:0000518Cataract
HP:0001250Seizure
HP:0001254Lethargy
HP:0001259Coma
Эпидемиология13
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 5 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5 | Switzerland | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Switzerland | Class only |
| Prevalence at birth | 1-9 / 100 000 | 5 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | — | United Kingdom | Class only |
| Prevalence at birth | 1-9 / 100 000 | 3.8 | Germany | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Germany | Class only |
| Prevalence at birth | 1-9 / 100 000 | — | Poland | Class only |
| Point prevalence | 1-9 / 100 000 | 3.2 | Poland | Value and class |
| Point prevalence | 1-9 / 100 000 | 7.5 | Finland | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.753 | United States | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.38 | Specific population | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1981 | China | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)