Dihydropyrimidine dehydrogenase deficiency
ORPHA:1675DiseaseAutosomal recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)55
Очень частый (80–99%)2
HP:0003654Reduced dihydropyrimidine dehydrogenase activity
HP:0012127Uraciluria
Частый (30–79%)6
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0002353EEG abnormality
HP:0008947Floppy infant
HP:0010841Multifocal epileptiform discharges
Периодический (5–29%)47
HP:0000194Open mouth
HP:0000218High palate
HP:0000252Microcephaly
HP:0000256Macrocephaly
HP:0000278Retrognathia
HP:0000316Hypertelorism
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000478Abnormality of the eye
HP:0000482Microcornea
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000527Long eyelashes
HP:0000545Myopia
HP:0000639Nystagmus
HP:0000684Delayed eruption of teeth
HP:0000729Autistic behavior
HP:0000737Irritability
HP:0001104Macular hypoplasia
HP:0001276Hypertonia
HP:0001284Areflexia
HP:0001344Absent speech
HP:0001347Hyperreflexia
HP:0001799Short nail
HP:0002002Deep philtrum
HP:0002033Poor suck
HP:0002059Cerebral atrophy
HP:0002187Intellectual disability, profound
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0002540Inability to walk
HP:0002656Epiphyseal dysplasia
HP:0002983Micromelia
HP:0004887Respiratory failure requiring assisted ventilation
HP:0005274Prominent nasal tip
HP:0005280Depressed nasal bridge
HP:0006191Deep palmar crease
HP:0006863Severe expressive language delay
HP:0008872Feeding difficulties in infancy
HP:0009748Large earlobe
HP:0011153Focal motor seizure
HP:0011220Prominent forehead
HP:0011344Severe global developmental delay
HP:0012433Abnormal social behavior
HP:0030890Hyperintensity of cerebral white matter on MRI
HP:0030939Palpebral thickening
HP:0000718Aggressive behavior
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)