Wild type ABeta2M amyloidosis
ORPHA:85446DiseaseNot applicableAdult
Фенотипы (HPO)27
Очень частый (80–99%)3
HP:0001369Arthritis
HP:0030833Neck pain
HP:0030834Shoulder pain
Частый (30–79%)9
HP:0003447Axonal loss
HP:0007078Decreased amplitude of sensory action potentials
HP:0012062Bone cyst
HP:0012185Constrictive median neuropathy
HP:0012531Pain
HP:0012534Dysesthesia
HP:0000762Decreased nerve conduction velocity
HP:0001227Abnormality of the thenar eminence
HP:0003401Paresthesia
Периодический (5–29%)7
HP:0000158Macroglossia
HP:0002015Dysphagia
HP:0002239Gastrointestinal hemorrhage
HP:0002242Abnormal intestine morphology
HP:0003040Arthropathy
HP:0005106Abnormality of the vertebral endplates
HP:0005108Abnormal intervertebral disk morphology
Очень редкий (1–4%)8
HP:0001635Congestive heart failure
HP:0002273Tetraparesis
HP:0002445Tetraplegia
HP:0003043Abnormality of the shoulder
HP:0004389Intestinal pseudo-obstruction
HP:0011675Arrhythmia
HP:0030843Cardiac amyloidosis
HP:0100261Abnormal tendon morphology
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 4.5 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)