Alpha-mannosidosis
ORPHA:61DiseaseAutosomal recessiveChildhood, Infancy, Neonatal
Фенотипы (HPO)42
Очень частый (80–99%)15
HP:0000158Macroglossia
HP:0000280Coarse facial features
HP:0000365Hearing impairment
HP:0000518Cataract
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001744Splenomegaly
HP:0002240Hepatomegaly
HP:0002652Skeletal dysplasia
HP:0002750Delayed skeletal maturation
HP:0004493Craniofacial hyperostosis
HP:0005280Depressed nasal bridge
HP:0005978Type II diabetes mellitus
HP:0007957Corneal opacity
HP:0008821Hypoplastic inferior ilia
Частый (30–79%)17
HP:0000023Inguinal hernia
HP:0000189Narrow palate
HP:0000212Gingival overgrowth
HP:0000316Hypertelorism
HP:0000336Prominent supraorbital ridges
HP:0000389Chronic otitis media
HP:0000400Macrotia
HP:0000470Short neck
HP:0000708Atypical behavior
HP:0001252Hypotonia
HP:0001385Hip dysplasia
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0006487Bowing of the long bones
HP:0010807Open bite
HP:0011039Abnormality of the helix
HP:0011354Generalized abnormality of skin
Периодический (5–29%)10
HP:0000256Macrocephaly
HP:0000303Mandibular prognathia
HP:0000687Widely spaced teeth
HP:0000689Dental malocclusion
HP:0000738Hallucinations
HP:0001369Arthritis
HP:0002205Recurrent respiratory infections
HP:0002516Increased intracranial pressure
HP:0010885Avascular necrosis
HP:0100240Synostosis of joints
Эпидемиология7
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 | Europe | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.09 | Australia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.13 | Norway | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.09 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.12 | Portugal | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 | Czech Republic | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.07 | Sweden | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)