Capillary malformation-arteriovenous malformation
ORPHA:137667Clinical groupAutosomal dominant, Not applicableInfancy, Neonatal
Фенотипы (HPO)29
Очень частый (80–99%)1
HP:0025104Capillary malformation
Частый (30–79%)1
HP:0011276Vascular skin abnormality
Периодический (5–29%)14
HP:0000421Epistaxis
HP:0001004Lymphedema
HP:0001009Telangiectasia
HP:0001722High-output congestive heart failure
HP:0001892Abnormal bleeding
HP:0002408Cerebral arteriovenous malformation
HP:0002637Cerebral ischemia
HP:0004947Arteriovenous fistula
HP:0009127Abnormality of the musculature of the limbs
HP:0012733Macule
HP:0030713Vein of Galen aneurysmal malformation
HP:0100026Arteriovenous malformation
HP:0100763Abnormality of the lymphatic system
HP:0100784Peripheral arteriovenous fistula
Очень редкий (1–4%)13
HP:0000011Neurogenic bladder
HP:0000238Hydrocephalus
HP:0000996Facial capillary hemangioma
HP:0001028Hemangioma
HP:0001250Seizure
HP:0001627Abnormal heart morphology
HP:0001635Congestive heart failure
HP:0001790Nonimmune hydrops fetalis
HP:0002076Migraine
HP:0002315Headache
HP:0004302Functional motor deficit
HP:0010310Chylothorax
HP:0020073Hypopigmented macule
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 261 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)