Parkes Weber syndrome
ORPHA:90307DiseaseAutosomal dominant, Not applicableInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)44
Очень частый (80–99%)2
HP:0002814Abnormality of the lower limb
HP:0100026Arteriovenous malformation
Частый (30–79%)13
HP:0001722High-output congestive heart failure
HP:0002617Dilatation
HP:0002619Varicose veins
HP:0004947Arteriovenous fistula
HP:0004948Vascular tortuosity
HP:0007394Prominent superficial blood vessels
HP:0008968Muscle hypertrophy of the lower extremities
HP:0012721Venous malformation
HP:0025104Capillary malformation
HP:0025474Erythematous plaque
HP:0032555Bounding pulse
HP:0100553Hemihypertrophy of lower limb
HP:0100784Peripheral arteriovenous fistula
Периодический (5–29%)27
HP:0000016Urinary retention
HP:0000079Abnormality of the urinary system
HP:0000100Nephrotic syndrome
HP:0001892Abnormal bleeding
HP:0002138Subarachnoid hemorrhage
HP:0002196Myelopathy
HP:0002315Headache
HP:0002390Spinal arteriovenous malformation
HP:0002408Cerebral arteriovenous malformation
HP:0002817Abnormality of the upper limb
HP:0002936Distal sensory impairment
HP:0003418Back pain
HP:0003474Somatic sensory dysfunction
HP:0005521Disseminated intravascular coagulation
HP:0006489Abnormality of the femoral metaphysis
HP:0007340Lower limb muscle weakness
HP:0010484Hypertrophy of the upper limb
HP:0012514Lower limb pain
HP:0012531Pain
HP:0030833Neck pain
HP:0031138Abnormal B-type natriuretic peptide level
HP:0031939Conus terminalis arteriovenous malformation
HP:0040189Scaling skin
HP:0100749Chest pain
HP:0100766Abnormal lymphatic vessel morphology
HP:0100775Dural ectasia
HP:0200042Skin ulcer
Очень редкий (1–4%)2
HP:0007461Hemangiomatosis
HP:0010550Paraplegia
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)