Gene DPM1 MIM phenotype 608799 Inheritance AR Brain (CNS) Yes Eyes Yes Heart No Liver No Kidneys No GI system No Skeletal muscles Yes Skeleton No Dysmorphia Yes Skin No Immune system No Other Blood Biochemical pathway Dolichol metabolism (Dol-P-Man biosynthesis) / ER Biomarker(s) Tf IEF type 1 pattern; Reduced α-DAG glycosylation; High CK Disease models knockdown zebrafish model; Knockout mice are embryonic lethal; Yeast S. cerevisiae model (Temperature sensitive mutant); Knockout HAP1 and HEK293T cellular models Additional Information Labeau et al 2020;Bursle et al 2017; Marchese et al 2016; Janik et al 2003
