Young-onset Parkinson disease
ORPHA:2828DiseaseAutosomal recessiveAdult
Ассоциированные гены11
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SYNJ1 | synaptojanin 1 | Disease-causing germline mutation(s) in | gene with protein product | 604297 |
| SNCA | synuclein alpha | Candidate gene tested in | gene with protein product | 163890 |
| PINK1 | PTEN induced kinase 1 | Disease-causing germline mutation(s) in | gene with protein product | 608309 |
| UCHL1 | ubiquitin C-terminal hydrolase L1 | Candidate gene tested in | gene with protein product | 191342 |
| HTRA2 | HtrA serine peptidase 2 | Candidate gene tested in | gene with protein product | 606441 |
| PODXL | podocalyxin like | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 602632 |
| LRRK2 | leucine rich repeat kinase 2 | Candidate gene tested in | gene with protein product | 609007 |
| PRKN | parkin RBR E3 ubiquitin protein ligase | Disease-causing germline mutation(s) in | gene with protein product | 602544 |
| PARK7 | Parkinsonism associated deglycase | Disease-causing germline mutation(s) in | gene with protein product | 602533 |
| VPS13C | vacuolar protein sorting 13 homolog C | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 608879 |
| DNAJC6 | DnaJ heat shock protein family (Hsp40) member C6 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 608375 |
Фенотипы (HPO)34
Очень частый (80–99%)1
HP:0002063Rigidity
Частый (30–79%)6
HP:0000716Depression
HP:0000738Hallucinations
HP:0000741Apathy
HP:0001337Tremor
HP:0002172Postural instability
HP:0100660Dyskinesia
Периодический (5–29%)23
HP:0012760Reduced social responsiveness
HP:0000551Color vision defect
HP:0000726Dementia
HP:0000736Short attention span
HP:0000739Anxiety
HP:0001257Spasticity
HP:0001332Dystonia
HP:0001347Hyperreflexia
HP:0002014Diarrhea
HP:0002018Nausea
HP:0002019Constipation
HP:0002067Bradykinesia
HP:0002141Gait imbalance
HP:0002578Gastroparesis
HP:0003394Muscle spasm
HP:0004409Hyposmia
HP:0012332Abnormal autonomic nervous system physiology
HP:0012452Restless legs
HP:0025269Panic attack
HP:0030014Female sexual dysfunction
HP:0040307Male sexual dysfunction
HP:0100543Cognitive impairment
HP:0100785Insomnia
Очень редкий (1–4%)4
HP:0000651Diplopia
HP:0000713Agitation
HP:0000727Frontal lobe dementia
HP:0100710Impulsivity
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 15 | Europe | Value and class |
| Point prevalence | 1-5 / 10 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)