HSD10 disease, infantile type
ORPHA:391428Clinical subtypeX-linked dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)51
Очень частый (80–99%)4
HP:0002151Increased circulating lactate concentration
HP:0002490Increased CSF lactate
HP:0003287Abnormality of mitochondrial metabolism
HP:0012379Abnormal enzyme/coenzyme activity
Частый (30–79%)13
HP:0000618Blindness
HP:0000750Delayed speech and language development
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001942Metabolic acidosis
HP:0001943Hypoglycemia
HP:0002059Cerebral atrophy
HP:0002180Neurodegeneration
HP:0002376Developmental regression
HP:0003128Lactic acidosis
HP:0011343Moderate global developmental delay
HP:0500170Abnormal concentration of acylcarnitine in the urine
Периодический (5–29%)34
HP:0002487Hyperkinetic movements
HP:0002505Loss of ambulation
HP:0002506Diffuse cerebral atrophy
HP:0002579Gastrointestinal dysmotility
HP:0006892Frontotemporal cerebral atrophy
HP:0007030Nonprogressive encephalopathy
HP:0010864Intellectual disability, severe
HP:0010936Abnormality of the lower urinary tract
HP:0012707Elevated brain lactate level by MRS
HP:0030391Spoken Word Recognition Deficit
HP:0000252Microcephaly
HP:0000365Hearing impairment
HP:0000510Rod-cone dystrophy
HP:0000546Retinal degeneration
HP:0000572Visual loss
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0000711Restlessness
HP:0000749Paroxysmal bursts of laughter
HP:0000961Cyanosis
HP:0001260Dysarthria
HP:0001264Spastic diplegia
HP:0001266Choreoathetosis
HP:0001285Spastic tetraparesis
HP:0001332Dystonia
HP:0001344Absent speech
HP:0001639Hypertrophic cardiomyopathy
HP:0001640Cardiomegaly
HP:0001987Hyperammonemia
HP:0001999Abnormal facial shape
HP:0002015Dysphagia
HP:0002134Abnormality of the basal ganglia
HP:0002370Poor coordination
HP:0002421Poor head control
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)