Hereditary ATTR amyloidosis
ORPHA:271861DiseaseAutosomal dominant
Фенотипы (HPO)36
Частый (30–79%)22
HP:0002019Constipation
HP:0002578Gastroparesis
HP:0003202Skeletal muscle atrophy
HP:0004926Orthostatic hypotension due to autonomic dysfunction
HP:0007141Sensorimotor neuropathy
HP:0011675Arrhythmia
HP:0012185Constrictive median neuropathy
HP:0012332Abnormal autonomic nervous system physiology
HP:0012722Heart block
HP:0031327Transthyretin cardiac amyloidosis
HP:0100832Vitreous floaters
HP:0000016Urinary retention
HP:0000112Nephropathy
HP:0000501Glaucoma
HP:0000802Impotence
HP:0000970Anhidrosis
HP:0001097Keratoconjunctivitis sicca
HP:0001635Congestive heart failure
HP:0001712Left ventricular hypertrophy
HP:0001723Restrictive cardiomyopathy
HP:0002014Diarrhea
HP:0002017Nausea and vomiting
Периодический (5–29%)14
HP:0000083Renal insufficiency
HP:0000100Nephrotic syndrome
HP:0001324Muscle weakness
HP:0001824Weight loss
HP:0004610Lumbar spinal canal stenosis
HP:0009027Foot dorsiflexor weakness
HP:0010829Impaired temperature sensition
HP:0011970Cerebral amyloid angiopathy
HP:0012531Pain
HP:0025309Abnormal pupil shape
HP:0031006Acroparesthesia
HP:0031189Wrist drop
HP:0033748Hypoesthesia
HP:0100550Tendon rupture
Эпидемиология41
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.2222 | Worldwide | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1474 | Argentina | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.147 | Australia | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1511 | Austria | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1484 | Bangladesh | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1504 | Belgium | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.5694 | Bulgaria | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1476 | Canada | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1481 | China | Value and class |
| Point prevalence | 1-9 / 100 000 | 4.25 | Cyprus | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1509 | Czech Republic | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1403 | Denmark | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.149 | Ecuador | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1454 | Finland | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.7514 | France | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1486 | Germany | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1481 | Greece | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.153 | Hungary | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1481 | India | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1578 | Ireland | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1428 | Israel | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.9046 | Italy | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1473 | Poland | Value and class |
| Point prevalence | 1-5 / 10 000 | 19.9126 | Portugal | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1464 | Romania | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1485 | Russian Federation | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1428 | Slovenia | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1487 | Spain | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1476 | Sri Lanka | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.5816 | Sweden | Value and class |
| Lifetime Prevalence | 1-9 / 1 000 000 | 0.1445 | Switzerland | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1489 | Taiwan, Province of China | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.0317 | Turkey | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.149 | United Kingdom | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.0968 | Japan | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1482 | Korea, Republic of | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1666 | Luxembourg | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1485 | Malaysia | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.148 | Mexico | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.2662 | Netherlands | Value and class |
| Point prevalence | 1-9 / 100 000 | 0.1521 | New Zealand | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)