Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
ORPHA:88639DiseaseAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)31
Очень частый (80–99%)5
HP:0001252Hypotonia
HP:0001270Motor delay
HP:0001332Dystonia
HP:0002013Vomiting
HP:0002344Progressive neurologic deterioration
Частый (30–79%)18
HP:0000286Epicanthus
HP:0000486Strabismus
HP:0000639Nystagmus
HP:0001250Seizure
HP:0001347Hyperreflexia
HP:0001508Failure to thrive
HP:0001942Metabolic acidosis
HP:0002078Truncal ataxia
HP:0002119Ventriculomegaly
HP:0002151Increased circulating lactate concentration
HP:0002360Sleep abnormality
HP:0002521Hypsarrhythmia
HP:0003287Abnormality of mitochondrial metabolism
HP:0003468Abnormal vertebral morphology
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0011334Facial shape deformation
HP:0011968Feeding difficulties
HP:0012469Infantile spasms
Периодический (5–29%)6
HP:0000028Cryptorchidism
HP:0000737Irritability
HP:0001298Encephalopathy
HP:0002093Respiratory insufficiency
HP:0002352Leukoencephalopathy
HP:0012697Small basal ganglia
Очень редкий (1–4%)2
HP:0001636Tetralogy of Fallot
HP:0002599Head titubation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 20 | 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)