Scleromyxedema
ORPHA:167635АуруДерек жоқЕресек
Фенотипы (HPO)41
Очень частый (80–99%)3
HP:0011354Generalized abnormality of skin
HP:0031047Paraproteinemia
HP:0200034Papule
Частый (30–79%)14
HP:0000271Abnormality of the face
HP:0000464Abnormality of the neck
HP:0001072Thickened skin
HP:0001155Abnormality of the hand
HP:0002015Dysphagia
HP:0002056Abnormality of the glabella
HP:0002829Arthralgia
HP:0002973Abnormality of the forearm
HP:0003198Myopathy
HP:0003236Elevated circulating creatine kinase concentration
HP:0003701Proximal muscle weakness
HP:0011838Sclerodactyly
HP:0025512Skin-colored papule
HP:0030053Stiff skin
Периодический (5–29%)17
HP:0000077Abnormality of the kidney
HP:0000160Narrow mouth
HP:0000989Pruritus
HP:0001250Seizure
HP:0001298Encephalopathy
HP:0001626Abnormality of the cardiovascular system
HP:0002020Gastroesophageal reflux
HP:0002088Abnormal lung morphology
HP:0002460Distal muscle weakness
HP:0002875Exertional dyspnea
HP:0003326Myalgia
HP:0008509Aged leonine appearance
HP:0011024Abnormality of the gastrointestinal tract
HP:0011805Abnormal skeletal muscle morphology
HP:0030178Abnormality of central nervous system electrophysiology
HP:0030880Raynaud phenomenon
HP:0100771Hypoperistalsis
Очень редкий (1–4%)6
HP:0001259Coma
HP:0001297Stroke
HP:0002326Transient ischemic attack
HP:0006704Abnormal coronary artery morphology
HP:0006775Multiple myeloma
HP:0030966Abnormal pulmonary artery morphology
Исключён (0%)1
HP:0002926Abnormality of thyroid physiology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 250 | 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)