Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
ORPHA:436271DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)38
Очень частый (80–99%)2
HP:0006980Progressive leukoencephalopathy
HP:0007133Progressive peripheral neuropathy
Частый (30–79%)34
HP:0000093Proteinuria
HP:0000124Renal tubular dysfunction
HP:0000508Ptosis
HP:0000580Pigmentary retinopathy
HP:0000648Optic atrophy
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001251Ataxia
HP:0001262Excessive daytime somnolence
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001288Gait disturbance
HP:0001290Generalized hypotonia
HP:0001410Decreased liver function
HP:0001508Failure to thrive
HP:0001639Hypertrophic cardiomyopathy
HP:0001903Anemia
HP:0001994Renal Fanconi syndrome
HP:0002240Hepatomegaly
HP:0002376Developmental regression
HP:0002490Increased CSF lactate
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0002875Exertional dyspnea
HP:0003076Glycosuria
HP:0003109Hyperphosphaturia
HP:0003128Lactic acidosis
HP:0003324Generalized muscle weakness
HP:0003355Aminoaciduria
HP:0006555Diffuse hepatic steatosis
HP:0007256Abnormal pyramidal sign
HP:0008619Bilateral sensorineural hearing impairment
HP:0030195Fatigable weakness of swallowing muscles
HP:0040291Skeletal muscle steatosis
Периодический (5–29%)2
HP:0001285Spastic tetraparesis
HP:0002013Vomiting
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)