Canavan disease
ORPHA:141DiseaseAutosomal recessiveChildhood, Infancy, Neonatal
Фенотипы (HPO)18
Очень частый (80–99%)6
HP:0000648Optic atrophy
HP:0001263Global developmental delay
HP:0002353EEG abnormality
HP:0004372Reduced consciousness/confusion
HP:0008872Feeding difficulties in infancy
HP:0100543Cognitive impairment
Частый (30–79%)8
HP:0000256Macrocephaly
HP:0000365Hearing impairment
HP:0000505Visual impairment
HP:0000618Blindness
HP:0000649Abnormality of visual evoked potentials
HP:0001252Hypotonia
HP:0001276Hypertonia
HP:0002020Gastroesophageal reflux
Периодический (5–29%)4
HP:0001250Seizure
HP:0001371Flexion contracture
HP:0002376Developmental regression
HP:0007703Abnormality of retinal pigmentation
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Annual incidence | 1-9 / 100 000 | 7 | Specific population | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)