Alpha-mannosidosis, infantile form
ORPHA:309282Clinical subtypeAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)88
Очень частый (80–99%)10
HP:0000388Otitis media
HP:0000750Delayed speech and language development
HP:0000943Dysostosis multiplex
HP:0001249Intellectual disability
HP:0001328Specific learning disability
HP:0002719Recurrent infections
HP:0002721Immunodeficiency
HP:0010471Oligosacchariduria
HP:0011842Abnormality of skeletal morphology
HP:0012379Abnormal enzyme/coenzyme activity
Частый (30–79%)18
HP:0000280Coarse facial features
HP:0000316Hypertelorism
HP:0000410Mixed hearing impairment
HP:0000486Strabismus
HP:0000518Cataract
HP:0000540Hypermetropia
HP:0000545Myopia
HP:0000736Short attention span
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001256Intellectual disability, mild
HP:0001270Motor delay
HP:0001433Hepatosplenomegaly
HP:0002090Pneumonia
HP:0003198Myopathy
HP:0011334Facial shape deformation
HP:0025406Asthenia
HP:0031123Recurrent gastroenteritis
Периодический (5–29%)56
HP:0000158Macroglossia
HP:0000248Brachycephaly
HP:0000256Macrocephaly
HP:0000297Facial hypotonia
HP:0000303Mandibular prognathia
HP:0000337Broad forehead
HP:0000407Sensorineural hearing impairment
HP:0000470Short neck
HP:0000483Astigmatism
HP:0000520Proptosis
HP:0000543Optic disc pallor
HP:0000687Widely spaced teeth
HP:0000708Atypical behavior
HP:0000716Depression
HP:0000738Hallucinations
HP:0000739Anxiety
HP:0000746Delusion
HP:0000767Pectus excavatum
HP:0000768Pectus carinatum
HP:0000900Thickened ribs
HP:0000926Platyspondyly
HP:0000938Osteopenia
HP:0000977Soft skin
HP:0001258Spastic paraplegia
HP:0001272Cerebellar atrophy
HP:0001289Confusion
HP:0001363Craniosynostosis
HP:0001382Joint hypermobility
HP:0001387Joint stiffness
HP:0001519Disproportionate tall stature
HP:0001537Umbilical hernia
HP:0001653Mitral regurgitation
HP:0001776Bilateral talipes equinovarus
HP:0001876Pancytopenia
HP:0002120Cerebral cortical atrophy
HP:0002308Chiari malformation
HP:0002312Clumsiness
HP:0002329Drowsiness
HP:0002553Highly arched eyebrow
HP:0002679Abnormality of the sella turcica
HP:0002684Thickened calvaria
HP:0002797Osteolysis
HP:0002857Genu valgum
HP:0004437Cranial hyperostosis
HP:0004684Talipes valgus
HP:0005280Depressed nasal bridge
HP:0005791Cortical thickening of long bone diaphyses
HP:0007957Corneal opacity
HP:0008821Hypoplastic inferior ilia
HP:0008936Axial hypotonia
HP:0010665Bilateral coxa valga
HP:0010885Avascular necrosis
HP:0011220Prominent forehead
HP:0012157Subcortical cerebral atrophy
HP:0012368Flat face
HP:0430022Abnormality of the sphenoid sinus
Очень редкий (1–4%)4
HP:0000010Recurrent urinary tract infections
HP:0001334Communicating hydrocephalus
HP:0001659Aortic regurgitation
HP:0002371Loss of speech
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)