Early-onset autosomal dominant Alzheimer disease
ORPHA:1020DiseaseAutosomal dominantAdult
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TREM2 | triggering receptor expressed on myeloid cells 2 | Candidate gene tested in | gene with protein product | 605086 |
| PSEN1 | presenilin 1 | Disease-causing germline mutation(s) in | gene with protein product | 104311 |
| PSEN2 | presenilin 2 | Disease-causing germline mutation(s) in | gene with protein product | 600759 |
| APP | amyloid beta precursor protein | Disease-causing germline mutation(s) in | gene with protein product | 104760 |
| SORL1 | sortilin related receptor 1 | Disease-causing germline mutation(s) in | gene with protein product | 602005 |
| TOMM40 | translocase of outer mitochondrial membrane 40 | Biomarker tested in | gene with protein product | 608061 |
Фенотипы (HPO)26
Очень частый (80–99%)15
HP:0000713Agitation
HP:0000726Dementia
HP:0000738Hallucinations
HP:0001250Seizure
HP:0001276Hypertonia
HP:0001289Confusion
HP:0001300Parkinsonism
HP:0001336Myoclonus
HP:0002120Cerebral cortical atrophy
HP:0002185Neurofibrillary tangles
HP:0002354Memory impairment
HP:0002463Language impairment
HP:0003791Deposits immunoreactive to beta-amyloid protein
HP:0012433Abnormal social behavior
HP:0012759Neurodevelopmental abnormality
Частый (30–79%)1
HP:0000734Disinhibition
Периодический (5–29%)10
HP:0000504Abnormality of vision
HP:0000657Oculomotor apraxia
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0002186Apraxia
HP:0002381Aphasia
HP:0010525Finger agnosia
HP:0010526Dysgraphia
HP:0011446Abnormality of higher mental function
HP:0030219Semantic dementia
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)