see Mabry syndrome

Acronym for HyperPhosphatasia with Mental  Retardation  Syndrome.

Group of Hyperphosphatasias with mental retardation including:

• HPMRS1 [MIM 239 300], or Mabry syndrome: mutation of the PIGV gene (1p36.11)
• HPMRS2 [MIM 614 749], mutation of the PIGO gene (9p13);
• HPMRS3 [MIM 614 207], mutation of the PGAP2 gene (11p15);
• HPMRS4 [MIM 615 716], mutation of the PGAP3 gene (17q12);
• HPMRS5 [MIM 616 025], mutation of the PIGW gene (17q12);
• HPMRS6 [MIM 616 809], mutation of the PIGY gene (4q22).