GeneReview Scope: TEK-Related Venous Malformations

PathologyUnifocal (Isolated) VMMultifocal Sporadic VM (MSVM)Multiple Cutaneous & Mucosal VM (VMCM)Blue Rubber Bleb Nevus (BRBN) Syndrome
ISSVA classification 1 Common VMFamilial VM cutaneo-mucosalBlue rubber bleb nevus (Bean) syndrome
Molecular etiology Somatic (mosaic) pathogenic variantSomatic (mosaic) pathogenic variant + second somatic pathogenic variantGermline (inherited) + somatic (mosaic) pathogenic variantSomatic (mosaic) pathogenic variant + second somatic pathogenic variant
Genetic counseling Risk for offspring presumed to be the same as general population risk≤50% risk for offspring due to possibility of germline mosaicismAutosomal dominant (50% risk for offspring)Risk for offspring presumed to be the same as general population risk

VM = venous malformations

Adapted from Figure 4 in Soblet et al [2017] (full text)

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From: TEK-Related Venous Malformations

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