EAST syndrome
ORPHA:199343DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)26
Очень частый (80–99%)16
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001251Ataxia
HP:0001263Global developmental delay
HP:0002197Generalized-onset seizure
HP:0002900Hypokalemia
HP:0002917Hypomagnesemia
HP:0005567Renal magnesium wasting
HP:0012591Abnormal urinary electrolyte concentration
HP:0012606Renal sodium wasting
HP:0030083Salt craving
HP:0200114Metabolic alkalosis
HP:0000127Renal salt wasting
HP:0000407Sensorineural hearing impairment
HP:0000848Increased circulating renin level
HP:0000859Hyperaldosteronism
Частый (30–79%)3
HP:0000805Enuresis
HP:0001959Polydipsia
HP:0002345Action tremor
Периодический (5–29%)7
HP:0001272Cerebellar atrophy
HP:0001288Gait disturbance
HP:0001344Absent speech
HP:0002540Inability to walk
HP:0003477Peripheral axonal neuropathy
HP:0007182Peripheral hypomyelination
HP:0007340Lower limb muscle weakness
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 26 | 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)