Alpha-mannosidosis, adult form
ORPHA:309288Clinical subtypeAutosomal recessiveAdult
Ассоциированные гены1
Фенотипы (HPO)30
Очень частый (80–99%)2
HP:0001256Intellectual disability, mild
HP:0010471Oligosacchariduria
Частый (30–79%)3
HP:0001251Ataxia
HP:0002719Recurrent infections
HP:0025406Asthenia
Периодический (5–29%)21
HP:0000158Macroglossia
HP:0000410Mixed hearing impairment
HP:0000518Cataract
HP:0000545Myopia
HP:0000708Atypical behavior
HP:0000716Depression
HP:0000738Hallucinations
HP:0000739Anxiety
HP:0000746Delusion
HP:0000750Delayed speech and language development
HP:0000938Osteopenia
HP:0001272Cerebellar atrophy
HP:0001289Confusion
HP:0001433Hepatosplenomegaly
HP:0002090Pneumonia
HP:0002120Cerebral cortical atrophy
HP:0002312Clumsiness
HP:0002329Drowsiness
HP:0002721Immunodeficiency
HP:0012157Subcortical cerebral atrophy
HP:0031123Recurrent gastroenteritis
Очень редкий (1–4%)4
HP:0000543Optic disc pallor
HP:0001659Aortic regurgitation
HP:0001876Pancytopenia
HP:0007957Corneal opacity
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)