Alpha-N-acetylgalactosaminidase deficiency
ORPHA:3137DiseaseAutosomal recessiveAdult, Childhood, Infancy
Фенотипы (HPO)28
Очень частый (80–99%)8
HP:0000365Hearing impairment
HP:0000618Blindness
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0002376Developmental regression
HP:0010471Oligosacchariduria
Частый (30–79%)11
HP:0000280Coarse facial features
HP:0000518Cataract
HP:0000639Nystagmus
HP:0001250Seizure
HP:0001321Cerebellar hypoplasia
HP:0002120Cerebral cortical atrophy
HP:0002169Clonus
HP:0002321Vertigo
HP:0002445Tetraplegia
HP:0009830Peripheral neuropathy
HP:0011276Vascular skin abnormality
Периодический (5–29%)9
HP:0000486Strabismus
HP:0000717Autism
HP:0001004Lymphedema
HP:0001640Cardiomegaly
HP:0002019Constipation
HP:0002020Gastroesophageal reflux
HP:0002650Scoliosis
HP:0006532Recurrent pneumonia
HP:0012471Thick vermilion border
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)