While many cases of HPMRS are caused by mutations in the PIGV gene, there may be genetic heterogeneity in the spectrum of Mabry syndrome as a whole. PIGV is a member of the molecular pathway that synthesizes the glycosylphosphatidylinositol anchor. The loss in PIGV activity results in a reduced anchoring of alkaline phosphatase to the surface membrane and an elevated alkaline phosphatase activity in the serum.
Hyperphosphatasia with mental retardation syndrome
Malignant infantile osteopetrosis
Diffuse idiopathic skeletal hyperostosis
Normophosphatemic familial tumoral calcinosis
Gerodermia osteodysplastica
Bing–Neel syndrome
Autosomal dominant hypophosphatemic rickets
MDP syndrome