WARS2-related combined oxidative phosphorylation defect
ORPHA:572798DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)57
Очень частый (80–99%)4
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0008947Floppy infant
HP:0100022Abnormality of movement
Частый (30–79%)21
HP:0000718Aggressive behavior
HP:0001250Seizure
HP:0001272Cerebellar atrophy
HP:0001288Gait disturbance
HP:0001324Muscle weakness
HP:0001347Hyperreflexia
HP:0001511Intrauterine growth retardation
HP:0002059Cerebral atrophy
HP:0002119Ventriculomegaly
HP:0002151Increased circulating lactate concentration
HP:0002167Abnormality of speech or vocalization
HP:0002342Intellectual disability, moderate
HP:0002451Limb dystonia
HP:0002509Limb hypertonia
HP:0002518Abnormal periventricular white matter morphology
HP:0003128Lactic acidosis
HP:0003700Generalized amyotrophy
HP:0008936Axial hypotonia
HP:0012379Abnormal enzyme/coenzyme activity
HP:0012430Cerebral white matter hypoplasia
HP:0012448Delayed myelination
Периодический (5–29%)32
HP:0000218High palate
HP:0000219Thin upper lip vermilion
HP:0000316Hypertelorism
HP:0000369Low-set ears
HP:0000431Wide nasal bridge
HP:0000510Rod-cone dystrophy
HP:0000577Exotropia
HP:0000639Nystagmus
HP:0000646Amblyopia
HP:0001251Ataxia
HP:0001310Dysmetria
HP:0001320Cerebellar vermis hypoplasia
HP:0001337Tremor
HP:0001344Absent speech
HP:0001638Cardiomyopathy
HP:0001873Thrombocytopenia
HP:0001998Neonatal hypoglycemia
HP:0001999Abnormal facial shape
HP:0002015Dysphagia
HP:0002187Intellectual disability, profound
HP:0002198Dilated fourth ventricle
HP:0002305Athetosis
HP:0002352Leukoencephalopathy
HP:0002365Hypoplasia of the brainstem
HP:0002421Poor head control
HP:0002510Spastic tetraplegia
HP:0003698Difficulty standing
HP:0005656Positional foot deformity
HP:0006956Dilation of lateral ventricles
HP:0007772Impaired smooth pursuit
HP:0012704Widened subarachnoid space
HP:0031165Multifocal seizures
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 11 | 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)