Pseudoxanthoma elasticum
ORPHA:758DiseaseAutosomal recessiveAll ages
Ассоциированные гены2
Фенотипы (HPO)41
Очень частый (80–99%)10
HP:0000474Thickened nuchal skin fold
HP:0000488Retinopathy
HP:0000573Retinal hemorrhage
HP:0000951Abnormality of the skin
HP:0001102Angioid streaks of the fundus
HP:0007392Excessive wrinkled skin
HP:0030680Abnormal cardiovascular system morphology
HP:0100545Arterial stenosis
HP:0100659Abnormality of the cerebral vasculature
HP:0100679Lack of skin elasticity
Частый (30–79%)6
HP:0000978Bruising susceptibility
HP:0001065Striae distensae
HP:0001582Redundant skin
HP:0004417Intermittent claudication
HP:0025473Hyperpigmented papule
HP:0033027Retinal peau d'orange
Периодический (5–29%)25
HP:0000121Nephrocalcinosis
HP:0000505Visual impairment
HP:0000592Blue sclerae
HP:0000765Abnormal thorax morphology
HP:0000822Hypertension
HP:0000974Hyperextensible skin
HP:0001012Multiple lipomas
HP:0001297Stroke
HP:0001482Subcutaneous nodule
HP:0001634Mitral valve prolapse
HP:0001645Sudden cardiac death
HP:0001650Aortic valve stenosis
HP:0001681Angina pectoris
HP:0001723Restrictive cardiomyopathy
HP:0001872Abnormality of thrombocytes
HP:0002172Postural instability
HP:0002239Gastrointestinal hemorrhage
HP:0002326Transient ischemic attack
HP:0002514Cerebral calcification
HP:0004306Abnormality of the endocardium
HP:0011506Choroidal neovascularization
HP:0012508Metamorphopsia
HP:0100585Telangiectasia of the skin
HP:0100817Renovascular hypertension
HP:0001382Joint hypermobility
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.5 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)