Fumaric aciduria
ORPHA:24DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)44
Очень частый (80–99%)1
HP:0003536Decreased fumarate hydratase activity
Частый (30–79%)14
HP:0000316Hypertelorism
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001254Lethargy
HP:0001263Global developmental delay
HP:0001298Encephalopathy
HP:0001531Failure to thrive in infancy
HP:0001561Polyhydramnios
HP:0001622Premature birth
HP:0002007Frontal bossing
HP:0002059Cerebral atrophy
HP:0002119Ventriculomegaly
HP:0005280Depressed nasal bridge
HP:0008872Feeding difficulties in infancy
Периодический (5–29%)25
HP:0000252Microcephaly
HP:0000463Anteverted nares
HP:0000648Optic atrophy
HP:0000817Reduced eye contact
HP:0001259Coma
HP:0001273Abnormal corpus callosum morphology
HP:0001332Dystonia
HP:0001511Intrauterine growth retardation
HP:0001562Oligohydramnios
HP:0001875Decreased total neutrophil count
HP:0001901Polycythemia
HP:0002013Vomiting
HP:0002240Hepatomegaly
HP:0002421Poor head control
HP:0002500Abnormal cerebral white matter morphology
HP:0002521Hypsarrhythmia
HP:0003191Cleft ala nasi
HP:0006808Cerebral hypomyelination
HP:0010804Tented upper lip vermilion
HP:0012402Increased urine alpha-ketoglutarate concentration
HP:0012448Delayed myelination
HP:0012469Infantile spasms
HP:0025646Bilateral polymicrogyria
HP:0034648Elevated urine fumaric acid level
HP:0100704Cerebral visual impairment
Очень редкий (1–4%)4
HP:0001942Metabolic acidosis
HP:0001943Hypoglycemia
HP:0001987Hyperammonemia
HP:0003128Lactic acidosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 40 | 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)