Frontotemporal dementia with motor neuron disease
ORPHA:275872DiseaseAutosomal dominantAdult
Ассоциированные гены7
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| VCP | valosin containing protein | Disease-causing germline mutation(s) in | gene with protein product | 601023 |
| TARDBP | TAR DNA binding protein | Disease-causing germline mutation(s) in | gene with protein product | 605078 |
| FUS | FUS RNA binding protein | Major susceptibility factor in | gene with protein product | 137070 |
| SQSTM1 | sequestosome 1 | Disease-causing germline mutation(s) in | gene with protein product | 601530 |
| C9ORF72 | C9orf72-SMCR8 complex subunit | Disease-causing germline mutation(s) in | gene with protein product | 614260 |
| TBK1 | TANK binding kinase 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 604834 |
| CHCHD10 | coiled-coil-helix-coiled-coil-helix domain containing 10 | Disease-causing germline mutation(s) in | gene with protein product | 615903 |
Фенотипы (HPO)35
Очень частый (80–99%)3
HP:0002366Abnormal lower motor neuron morphology
HP:0002127Abnormal upper motor neuron morphology
HP:0002145Frontotemporal dementia
Частый (30–79%)20
HP:0000708Atypical behavior
HP:0000716Depression
HP:0000738Hallucinations
HP:0000741Apathy
HP:0001260Dysarthria
HP:0001300Parkinsonism
HP:0002015Dysphagia
HP:0002071Abnormality of extrapyramidal motor function
HP:0002073Progressive cerebellar ataxia
HP:0002171Gliosis
HP:0002186Apraxia
HP:0002273Tetraparesis
HP:0002314Degeneration of the lateral corticospinal tracts
HP:0002385Paraparesis
HP:0002442Dyscalculia
HP:0002460Distal muscle weakness
HP:0003700Generalized amyotrophy
HP:0003701Proximal muscle weakness
HP:0007190Neuronal loss in the cerebral cortex
HP:0010549Weakness due to upper motor neuron dysfunction
Периодический (5–29%)11
HP:0000605Supranuclear gaze palsy
HP:0000734Disinhibition
HP:0001265Hyporeflexia
HP:0001283Bulbar palsy
HP:0002283Global brain atrophy
HP:0002300Mutism
HP:0002380Fasciculations
HP:0003487Babinski sign
HP:0008322Abnormal mitochondrial morphology
HP:0008619Bilateral sensorineural hearing impairment
HP:0030223Perseveration
Очень редкий (1–4%)1
HP:0000508Ptosis
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)