This website provides information on patients with mutations in the PIGV (Phosphatidylinositol Glycan Anchor Biosynthesis Class V Protein) gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the PIGV gene, PIGV-CDG, previously known as Hyperphosphatasia with impaired intellectual development syndrome-1 (HPMRS1), is an autosomal recessive disorder characterized by intellectual disability, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy.

Not all individuals with a mutation in the PIGV gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the PIGV gene.

Aleksandra Jezela-Stanek, MD, PhD, Prof, Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland, jezela@gmail.com

In collaboration with Drs Yoshiko Murakami, Taroh Kinoshita, Philippe Campeau, Peter Krawitz, Magdalena Pelc and Allan Bayat.