Figure 3.

Venn diagram of phenotypes seen in women with pathogenic ALPL SNPs rs121918007, rs121918002, and rs19966998. This Venn diagram depicts the distribution of associations seen in women with the ALPL SNPs rs121918007, rs121918002, and rs19966998, all previously reported as pathogenic. Of these 52 total women examined, 40 had evidence of disease. Of the 13 women who were compound heterozygotes, three had gynecologic (gyn) only, two had bone only, one had dental only, and one had gyn + bone. Women with no associated HPP-related or gynecologic findings had higher AlkP.