Alpha-N-acetylgalactosaminidase deficiency type 1
ORPHA:79279Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)30
Очень частый (80–99%)12
HP:0000365Hearing impairment
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0001324Muscle weakness
HP:0002363Abnormal brainstem morphology
HP:0002376Developmental regression
HP:0003700Generalized amyotrophy
HP:0007256Abnormal pyramidal sign
HP:0010864Intellectual disability, severe
HP:0100704Cerebral visual impairment
Частый (30–79%)12
HP:0000486Strabismus
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0000717Autism
HP:0000763Sensory neuropathy
HP:0000962Hyperkeratosis
HP:0001009Telangiectasia
HP:0001336Myoclonus
HP:0002071Abnormality of extrapyramidal motor function
HP:0002321Vertigo
HP:0004374Hemiplegia/hemiparesis
HP:0100585Telangiectasia of the skin
Периодический (5–29%)6
HP:0001004Lymphedema
HP:0001639Hypertrophic cardiomyopathy
HP:0002240Hepatomegaly
HP:0003401Paresthesia
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0009830Peripheral neuropathy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)