Familial multiple nevi flammei
ORPHA:624Morphological anomalyAutosomal dominantNeonatal
Ассоциированные гены1
Фенотипы (HPO)23
Очень частый (80–99%)4
HP:0001034Hypermelanotic macule
HP:0001052Nevus flammeus
HP:0007400Irregular hyperpigmentation
HP:0100026Arteriovenous malformation
Частый (30–79%)1
HP:0200034Papule
Периодический (5–29%)18
HP:0000501Glaucoma
HP:0000969Edema
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001269Hemiparesis
HP:0001291Abnormal cranial nerve morphology
HP:0002170Intracranial hemorrhage
HP:0002204Pulmonary embolism
HP:0002301Hemiplegia
HP:0002514Cerebral calcification
HP:0002650Scoliosis
HP:0002814Abnormality of the lower limb
HP:0002817Abnormality of the upper limb
HP:0004936Venous thrombosis
HP:0005293Venous insufficiency
HP:0011675Arrhythmia
HP:0100559Lower limb asymmetry
HP:0200042Skin ulcer
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)