Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
ORPHA:314404DiseaseAutosomal dominant, Not applicableAdult
Ассоциированные гены1
Фенотипы (HPO)28
Очень частый (80–99%)2
HP:0000407Sensorineural hearing impairment
HP:0030050Narcolepsy
Частый (30–79%)2
HP:0000648Optic atrophy
HP:0003287Abnormality of mitochondrial metabolism
Периодический (5–29%)24
HP:0000020Urinary incontinence
HP:0000518Cataract
HP:0000639Nystagmus
HP:0000716Depression
HP:0000763Sensory neuropathy
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001268Mental deterioration
HP:0001272Cerebellar atrophy
HP:0001347Hyperreflexia
HP:0002059Cerebral atrophy
HP:0002200Pseudobulbar signs
HP:0002322Resting tremor
HP:0002346Head tremor
HP:0002354Memory impairment
HP:0002476Primitive reflex
HP:0002500Abnormal cerebral white matter morphology
HP:0002529Neuronal loss in central nervous system
HP:0002921Abnormality of the cerebrospinal fluid
HP:0003487Babinski sign
HP:0003550Predominantly lower limb lymphedema
HP:0007082Dilated third ventricle
HP:0007366Atrophy/Degeneration affecting the brainstem
HP:0009830Peripheral neuropathy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 80 | 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)