Sandhoff disease
ORPHA:796DiseaseAutosomal recessiveAdolescent, Adult, Childhood, Infancy
Фенотипы (HPO)19
Очень частый (80–99%)12
HP:0000256Macrocephaly
HP:0000365Hearing impairment
HP:0000618Blindness
HP:0001250Seizure
HP:0001251Ataxia
HP:0001508Failure to thrive
HP:0002333Motor deterioration
HP:0002808Kyphosis
HP:0004343Abnormal glycosphingolipid metabolism
HP:0007272Progressive psychomotor deterioration
HP:0010729Cherry red spot of the macula
HP:0100022Abnormality of movement
Частый (30–79%)5
HP:0000293Full cheeks
HP:0001324Muscle weakness
HP:0001744Splenomegaly
HP:0002205Recurrent respiratory infections
HP:0002240Hepatomegaly
Периодический (5–29%)2
HP:0001635Congestive heart failure
HP:0002652Skeletal dysplasia
Эпидемиология9
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.49 | Portugal | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.34 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.19 | Czech Republic | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.26 | Australia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.95 | Turkey | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 | United States | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.67 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 | Sweden | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)