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GENATLAS PHENOTYPE
last update : 20/02/2013
Symbol GVM
Location 1p22-p21.1
Name glomuvenous malformations, familial
Corresponding gene GLMN
Other symbol(s) VMGLOM
Main clinical features
  • venous malformations with glomus cells
  • glomangioma, multiple
  • vascular lesions of the skin, histologically distinguished by their distended vein-like channels containing characteristic 'glomus cells', which appear to be incompletely or improperly differentiated vascular smooth muscle cells (VSMCs)
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    cardiovascular
    Type disease
    Gene product
    Name glomulin, FKBP associated protein
    Remark(s) acquired somatic uniparental isodisomy rendering the inherited glomulin variant in 1p22.1 homozygous explains multifocality of glomuvenous malformations PMID: 23375657