Capillary-lymphatic-venous malformation with segmental distribution
ORPHA:90308DiseaseMultigenic/multifactorial, Not applicableInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)31
Очень частый (80–99%)5
HP:0001028Hemangioma
HP:0005293Venous insufficiency
HP:0011842Abnormality of skeletal morphology
HP:0100559Lower limb asymmetry
HP:0100560Upper limb asymmetry
Частый (30–79%)5
HP:0000098Tall stature
HP:0002204Pulmonary embolism
HP:0002239Gastrointestinal hemorrhage
HP:0004936Venous thrombosis
HP:0100658Cellulitis
Периодический (5–29%)21
HP:0000140Abnormality of the menstrual cycle
HP:0000252Microcephaly
HP:0000256Macrocephaly
HP:0000790Hematuria
HP:0000929Abnormal skull morphology
HP:0000969Edema
HP:0001249Intellectual disability
HP:0001541Ascites
HP:0001631Atrial septal defect
HP:0001635Congestive heart failure
HP:0001643Patent ductus arteriosus
HP:0001702Abnormal tricuspid valve morphology
HP:0001789Hydrops fetalis
HP:0001935Microcytic anemia
HP:0002093Respiratory insufficiency
HP:0002240Hepatomegaly
HP:0003010Prolonged bleeding time
HP:0004414Abnormality of the pulmonary artery
HP:0011029Internal hemorrhage
HP:0100724Hypercoagulability
HP:0100784Peripheral arteriovenous fistula
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.007 | United States | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.007 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)