Variant ABeta2M amyloidosis
ORPHA:314652DiseaseAutosomal dominantAdult
Ассоциированные гены1
Фенотипы (HPO)24
Частый (30–79%)3
HP:0001917Renal amyloidosis
HP:0012185Constrictive median neuropathy
HP:0012622Chronic kidney disease
Периодический (5–29%)21
HP:0000157Abnormality of the tongue
HP:0002176Spinal cord compression
HP:0002756Pathologic fracture
HP:0003365Arthralgia of the hip
HP:0005244Gastrointestinal infarctions
HP:0007141Sensorimotor neuropathy
HP:0010286Abnormal salivary gland morphology
HP:0011805Abnormal skeletal muscle morphology
HP:0011915Cardiovascular calcification
HP:0012065Multiple bony cystic lesions
HP:0012280Hepatic amyloidosis
HP:0012309Cutaneous amyloidosis
HP:0012332Abnormal autonomic nervous system physiology
HP:0012664Reduced left ventricular ejection fraction
HP:0025015Abnormal vascular morphology
HP:0030834Shoulder pain
HP:0030836Wrist pain
HP:0030839Knee pain
HP:0030843Cardiac amyloidosis
HP:0031368Intestinal perforation
HP:0100292Amyloidosis of peripheral nerves
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | 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)