Beta-propeller protein-associated neurodegeneration
ORPHA:329284DiseaseX-linked dominantChildhood
Ассоциированные гены1
Фенотипы (HPO)22
Частый (30–79%)19
HP:0000496Abnormality of eye movement
HP:0000726Dementia
HP:0000743Frontal release signs
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001272Cerebellar atrophy
HP:0001300Parkinsonism
HP:0001332Dystonia
HP:0001337Tremor
HP:0002059Cerebral atrophy
HP:0002063Rigidity
HP:0002067Bradykinesia
HP:0002313Spastic paraparesis
HP:0002360Sleep abnormality
HP:0002448Progressive encephalopathy
HP:0002465Poor speech
HP:0012332Abnormal autonomic nervous system physiology
HP:0012675Iron accumulation in brain
HP:0012678Iron accumulation in substantia nigra
Периодический (5–29%)3
HP:0000648Optic atrophy
HP:0000718Aggressive behavior
HP:0001250Seizure
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 68 | 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)