Semantic dementia
ORPHA:100069DiseaseMultigenic/multifactorial, Not applicableAdult
Ассоциированные гены7
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PSEN1 | presenilin 1 | Disease-causing germline mutation(s) in | gene with protein product | 104311 |
| TMEM106B | transmembrane protein 106B | Major susceptibility factor in | gene with protein product | 613413 |
| CHMP2B | charged multivesicular body protein 2B | Major susceptibility factor in | gene with protein product | 609512 |
| TREM2 | triggering receptor expressed on myeloid cells 2 | Major susceptibility factor in | gene with protein product | 605086 |
| MAPT | microtubule associated protein tau | Major susceptibility factor in | gene with protein product | 157140 |
| GRN | granulin precursor | Major susceptibility factor in | gene with protein product | 138945 |
| C9ORF72 | C9orf72-SMCR8 complex subunit | Major susceptibility factor in | gene with protein product | 614260 |
Фенотипы (HPO)10
Очень частый (80–99%)4
HP:0002381Aphasia
HP:0012444Brain atrophy
HP:0030222Visual agnosia
HP:0030784Anomia
Частый (30–79%)6
HP:0000726Dementia
HP:0002167Abnormality of speech or vocalization
HP:0010522Dyslexia
HP:0010523Alexia
HP:0010526Dysgraphia
HP:0012671Abulia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 49 | 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)