Galactokinase deficiency
ORPHA:79237DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)26
Очень частый (80–99%)4
HP:0012024Hypergalactosemia
HP:0012379Abnormal enzyme/coenzyme activity
HP:0410061Increased level of galactitol in plasma
HP:0410062Increased level of galactitol in urine
Частый (30–79%)2
HP:0000518Cataract
HP:0100018Nuclear cataract
Периодический (5–29%)9
HP:0000815Hypergonadotropic hypogonadism
HP:0000842Hyperinsulinemia
HP:0001249Intellectual disability
HP:0001270Motor delay
HP:0001433Hepatosplenomegaly
HP:0001518Small for gestational age
HP:0002240Hepatomegaly
HP:0008209Premature ovarian insufficiency
HP:0011098Speech apraxia
Очень редкий (1–4%)11
HP:0000252Microcephaly
HP:0000407Sensorineural hearing impairment
HP:0001250Seizure
HP:0001508Failure to thrive
HP:0001622Premature birth
HP:0001943Hypoglycemia
HP:0002361Psychomotor deterioration
HP:0003124Hypercholesterolemia
HP:0004431Complement deficiency
HP:0011968Feeding difficulties
HP:0012768Neonatal asphyxia
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)