Behavioral variant of frontotemporal dementia
ORPHA:275864DiseaseAutosomal dominantAdult
Ассоциированные гены9
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TMEM106B | transmembrane protein 106B | Major susceptibility factor in | gene with protein product | 613413 |
| PSEN1 | presenilin 1 | Disease-causing germline mutation(s) in | gene with protein product | 104311 |
| 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 |
| VCP | valosin containing protein | Major susceptibility factor in | gene with protein product | 601023 |
| 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 |
| SQSTM1 | sequestosome 1 | Disease-causing germline mutation(s) in | gene with protein product | 601530 |
| C9ORF72 | C9orf72-SMCR8 complex subunit | Major susceptibility factor in | gene with protein product | 614260 |
Фенотипы (HPO)40
Очень частый (80–99%)25
HP:0000474Thickened nuchal skin fold
HP:0000708Atypical behavior
HP:0000710Hyperorality
HP:0000711Restlessness
HP:0000718Aggressive behavior
HP:0000719Inappropriate behavior
HP:0000723Restrictive behavior
HP:0000733Abnormal repetitive mannerisms
HP:0000734Disinhibition
HP:0000737Irritability
HP:0000751Personality changes
HP:0000757Lack of insight
HP:0001268Mental deterioration
HP:0002145Frontotemporal dementia
HP:0002354Memory impairment
HP:0002371Loss of speech
HP:0002381Aphasia
HP:0002442Dyscalculia
HP:0002465Poor speech
HP:0006892Frontotemporal cerebral atrophy
HP:0010522Dyslexia
HP:0010526Dysgraphia
HP:0010529Echolalia
HP:0030213Emotional blunting
HP:0030223Perseveration
Частый (30–79%)4
HP:0002500Abnormal cerebral white matter morphology
HP:0011204EEG with continuous slow activity
HP:0012658Abnormal brain FDG positron emission tomography
HP:0030212Collectionism
Периодический (5–29%)11
HP:0000709Psychosis
HP:0000741Apathy
HP:0001288Gait disturbance
HP:0001347Hyperreflexia
HP:0002069Bilateral tonic-clonic seizure
HP:0002071Abnormality of extrapyramidal motor function
HP:0002300Mutism
HP:0002380Fasciculations
HP:0002446Astrocytosis
HP:0002493Upper motor neuron dysfunction
HP:0012671Abulia
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 4 | Netherlands | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)