This website provides information on patients with mutations in the PGM1 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the PGM1 gene is a multisystem disorder affecting phosphoglucomutase-1 enzyme, characterized by dysmorphic features (e.g. cleft palate, Pierre Robin Sequence (PRS), bifid uvula), liver involvement, muscle involvement, cardiac abnormalities, developmental delay etc. Patients with PGM1 mutations also present with abnormal glycosylation, therefore PGM1 deficiency is characterized as congenital disorder of glycosylation (PGM1-CDG).
Not all individuals with pathogenic variants in the PGM1 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 pathogenic variants in the PGM1 gene.
Silvia Radenkovic, PhD, Mayo Clinic, Rochester, MN, USA, firstname.lastname@example.org
Eva Morava-Kozicz, MD, PhD, Mayo Clinic, Rochester, MN, USA, Moravaemail@example.com