Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
ORPHA:52430DiseaseAutosomal dominantAdult
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| VCP | valosin containing protein | Disease-causing germline mutation(s) in | gene with protein product | 601023 |
| HNRNPA2B1 | heterogeneous nuclear ribonucleoprotein A2/B1 | Disease-causing germline mutation(s) in | gene with protein product | 600124 |
| HNRNPA1 | heterogeneous nuclear ribonucleoprotein A1 | Disease-causing germline mutation(s) in | gene with protein product | 164017 |
Фенотипы (HPO)43
Очень частый (80–99%)9
HP:0002460Distal muscle weakness
HP:0002515Waddling gait
HP:0003236Elevated circulating creatine kinase concentration
HP:0003307Hyperlordosis
HP:0003458EMG: myopathic abnormalities
HP:0003557Increased variability in muscle fiber diameter
HP:0003701Proximal muscle weakness
HP:0003805Rimmed vacuoles
HP:0012083Ubiquitin-positive cerebral inclusion bodies
Частый (30–79%)7
HP:0000925Abnormality of the vertebral column
HP:0002145Frontotemporal dementia
HP:0002797Osteolysis
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0004322Short stature
HP:0012444Brain atrophy
HP:0030838Hip pain
Периодический (5–29%)26
HP:0000518Cataract
HP:0001249Intellectual disability
HP:0001293Cranial nerve compression
HP:0001397Hepatic steatosis
HP:0001635Congestive heart failure
HP:0001638Cardiomyopathy
HP:0002300Mutism
HP:0002380Fasciculations
HP:0002381Aphasia
HP:0002442Dyscalculia
HP:0002450Abnormal motor neuron morphology
HP:0002463Language impairment
HP:0002493Upper motor neuron dysfunction
HP:0002659Increased susceptibility to fractures
HP:0002683Abnormality of the calvaria
HP:0002839Urinary bladder sphincter dysfunction
HP:0003390Sensory axonal neuropathy
HP:0003444EMG: chronic denervation signs
HP:0003445EMG: neuropathic changes
HP:0003700Generalized amyotrophy
HP:0004347Weakness of muscles of respiration
HP:0004490Calvarial hyperostosis
HP:0007002Motor axonal neuropathy
HP:0007354Amyotrophic lateral sclerosis
HP:0011314Abnormality of long bone morphology
HP:0012548Fatty replacement of skeletal muscle
Очень редкий (1–4%)1
HP:0002756Pathologic fracture
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 26 | Worldwide | Family(ies) |
| 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)