Free sialic acid storage disease
ORPHA:834DiseaseAutosomal recessiveAntenatal, Infancy, Neonatal
Фенотипы (HPO)30
Очень частый (80–99%)10
HP:0000639Nystagmus
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0001288Gait disturbance
HP:0001760Abnormal foot morphology
HP:0007256Abnormal pyramidal sign
HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature
Частый (30–79%)16
HP:0000657Oculomotor apraxia
HP:0001000Abnormality of skin pigmentation
HP:0001250Seizure
HP:0001260Dysarthria
HP:0001531Failure to thrive in infancy
HP:0001541Ascites
HP:0001789Hydrops fetalis
HP:0001999Abnormal facial shape
HP:0002167Abnormality of speech or vocalization
HP:0002205Recurrent respiratory infections
HP:0002305Athetosis
HP:0002652Skeletal dysplasia
HP:0002817Abnormality of the upper limb
HP:0004349Reduced bone mineral density
HP:0007730Iris hypopigmentation
HP:0200042Skin ulcer
Периодический (5–29%)4
HP:0000093Proteinuria
HP:0000100Nephrotic syndrome
HP:0001744Splenomegaly
HP:0002240Hepatomegaly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 130 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)