Hereditary late-onset Parkinson disease
ORPHA:411602DiseaseAutosomal dominantAdult, Elderly
Ассоциированные гены7
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SNCA | synuclein alpha | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 163890 |
| GBA1 | glucosylceramidase beta 1 | Major susceptibility factor in | gene with protein product | 606463 |
| LRRK2 | leucine rich repeat kinase 2 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 609007 |
| EIF4G1 | eukaryotic translation initiation factor 4 gamma 1 | Candidate gene tested in | gene with protein product | 600495 |
| VPS35 | VPS35 retromer complex component | Disease-causing germline mutation(s) in | gene with protein product | 601501 |
| DNAJC13 | DnaJ heat shock protein family (Hsp40) member C13 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 614334 |
| GIGYF2 | GRB10 interacting GYF protein 2 | Candidate gene tested in | gene with protein product | 612003 |
Фенотипы (HPO)34
Облигатный (100%)1
HP:0001300Parkinsonism
Частый (30–79%)9
HP:0000651Diplopia
HP:0002015Dysphagia
HP:0002304Akinesia
HP:0002322Resting tremor
HP:0002359Frequent falls
HP:0002548Parkinsonism with favorable response to dopaminergic medication
HP:0004409Hyposmia
HP:0005340Spastic/hyperactive bladder
HP:0012450Chronic constipation
Периодический (5–29%)22
HP:0000338Hypomimic face
HP:0000713Agitation
HP:0000716Depression
HP:0000741Apathy
HP:0000744Low frustration tolerance
HP:0001268Mental deterioration
HP:0001332Dystonia
HP:0001824Weight loss
HP:0002063Rigidity
HP:0002067Bradykinesia
HP:0002120Cerebral cortical atrophy
HP:0002171Gliosis
HP:0002172Postural instability
HP:0002360Sleep abnormality
HP:0002362Shuffling gait
HP:0002367Visual hallucinations
HP:0003394Muscle spasm
HP:0004926Orthostatic hypotension due to autonomic dysfunction
HP:0031435Monotonic speech
HP:0100315Lewy bodies
HP:0100660Dyskinesia
HP:0100710Impulsivity
Очень редкий (1–4%)2
HP:0000726Dementia
HP:0100753Schizophrenia
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)