Vascular malformations: localized defects in vascular morphogenesis.
Vascular anomalies are localized defects of the vasculature, and usually affect a limited number of vessels in a restricted area of the body. They are subdivided into vascular malformations and vascular tumours. Most are sporadic, but Mendelian inheritance is observed in some families. By genetic analysis, several causative genes have been identified during the last 10 years. This has shed light into the pathophysiological pathways involved. Interestingly, in most cases, the primary defect seems to affect the characteristics of endothelial cells. Only mutations in the glomulin gene, responsible for hereditary glomuvenous malformations, are thought to directly affect vascular smooth-muscle cells.
Brouillard
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Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Université Catholique de Louvain, Brussels, Belgium. vikkula@bchm.ucl.ac.be
Vikkula
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M
D048868:Adaptor Proteins, Signal Transducing; D001808:Blood Vessels / Q000473:pathology / Q000502:physiology*; D002196:Capillaries / Q000002:abnormalities; D006402:Hematologic Diseases / Q000473:pathology; D006801:Humans; D008206:Lymphatic Diseases / Q000175:diagnosis / Q000235:genetics; D008954:Models, Biological; D009131:Muscle, Smooth, Vascular / Q000166:cytology; D009154:Mutation; D009389:Neovascularization, Pathologic; D015398:Signal Transduction; D022021:Tacrolimus Binding Proteins / Q000235:genetics; D014652:Vascular Diseases / Q000175:diagnosis* / Q000235:genetics*
D048868:Adaptor Proteins, Signal Transducing; C103024:GLMN protein, human; D022021:Tacrolimus Binding Proteins