Hyperphosphatasia with mental retardation syndrome (HPMRS), also known as Mabry syndrome, is an autosomal recessive disorder comprising intellectual disability and elevated levels of serum alkaline phosphatase, often accompanied by seizures, facial dysmorphism, and various anomalies such as brachytelephalangy. Mutation in different genes result in phenotypic variation.
Category
Inherited metabolic disorder
Brite
Pathway-based classification of diseases [BR:br08402]
Glycan/glycoprotein metabolism
nt06018 GPI-anchor biosynthesis
H01488 Hyperphosphatasia with mental retardation syndrome
Krawitz PM, Murakami Y, Hecht J, Kruger U, Holder SE, Mortier GR, Delle Chiaie B, De Baere E, Thompson MD, Roscioli T, Kielbasa S, Kinoshita T, Mundlos S, Robinson PN, Horn D
Title
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.
Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, Keays DA, Knight SJ, Kolsch U, Kruger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phillips JA 3rd, Robinson PN, Kini U, Taylor JC, Horn D, Kinoshita T, Krawitz PM
Title
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
Chiyonobu T, Inoue N, Morimoto M, Kinoshita T, Murakami Y
Title
Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.
Ilkovski B, Pagnamenta AT, O'Grady GL, Kinoshita T, Howard MF, Lek M, Thomas B, Turner A, Christodoulou J, Sillence D, Knight SJ, Popitsch N, Keays DA, Anzilotti C, Goriely A, Waddell LB, Brilot F, North KN, Kanzawa N, Macarthur DG, Taylor JC, Kini U, Murakami Y, Clarke NF
Title
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.
