VPS11-related autosomal recessive hypomyelinating leukodystrophy
ORPHA:466934DiseaseAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)26
Очень частый (80–99%)6
HP:0000252Microcephaly
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0100704Cerebral visual impairment
Частый (30–79%)17
HP:0002518Abnormal periventricular white matter morphology
HP:0002828Multiple joint contractures
HP:0007204Diffuse white matter abnormalities
HP:0007301Oromotor apraxia
HP:0012332Abnormal autonomic nervous system physiology
HP:0000011Neurogenic bladder
HP:0000407Sensorineural hearing impairment
HP:0000648Optic atrophy
HP:0001257Spasticity
HP:0001344Absent speech
HP:0001510Growth delay
HP:0002019Constipation
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002188Delayed CNS myelination
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0002465Poor speech
Очень редкий (1–4%)1
HP:0001272Cerebellar atrophy
Исключён (0%)2
HP:0000280Coarse facial features
HP:0001433Hepatosplenomegaly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 13 | 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)