Defective PGM1 causes PGM1-CDG (CDG1t)

Stable Identifier
R-HSA-5609974
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
General
SVG |   | PPTX  | SBGN
Click the image above or here to open this pathway in the Pathway Browser

Phosphoglucomutases 1 and 2 (PGM1, 2) are involved in the cytosolic biosynthesis of nucleotide sugars needed for glycan biosynthesis, specifically, the isomerisation of glucose-6-phosphate (G6P) into glucose-1-phosphate (G1P). Defects in PGM1 can cause congenital disorder of glycosylation 1t (CDG1t, now known as PGM1-CDG; MIM:614921), a broad spectrum disorder characterised by under-glycosylated serum glycoproteins (Timal et al. 2012, Tegtmeyer et al. 2014). CDGs result in a wide variety of clinical features such as defects in nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency.

Literature References
PubMed ID Title Journal Year
24499211 Multiple phenotypes in phosphoglucomutase 1 deficiency

Tegtmeyer, LC, Rust, S, van Scherpenzeel, M, Ng, BG, Losfeld, ME, Timal, S, Raymond, K, He, P, Ichikawa, M, Veltman, J, Huijben, K, Shin, YS, Sharma, V, Adamowicz, M, Lammens, M, Reunert, J, Witten, A, Schrapers, E, Matthijs, G, Jaeken, J, Rymen, D, Stojkovic, T, Laforêt, P, Petit, F, Aumaître, O, Czarnowska, E, Piraud, M, Podskarbi, T, Stanley, CA, Matalon, R, Burda, P, Seyyedi, S, Debus, V, Socha, P, Sykut-Cegielska, J, van Spronsen, F, De Meirleir, L, Vajro, P, DeClue, T, Ficicioglu, C, Wada, Y, Wevers, RA, Vanderschaeghe, D, Callewaert, N, Fingerhut, R, Van Schaftingen, E, Freeze, HH, Morava, E, Lefeber, DJ, Marquardt, T

N. Engl. J. Med. 2014
22492991 Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Timal, S, Hoischen, A, Lehle, L, Adamowicz, M, Huijben, K, Sykut-Cegielska, J, Paprocka, J, Jamroz, E, van Spronsen, FJ, Körner, C, Gilissen, C, Rodenburg, RJ, Eidhof, I, Van den Heuvel, L, Thiel, C, Wevers, RA, Morava, E, Veltman, J, Lefeber, DJ

Hum. Mol. Genet. 2012
Participants
Participant Of
Disease
Name Identifier Synonyms
congenital disorder of glycosylation 5212 carbohydrate-deficient glycoprotein syndrome
Authored
Reviewed
Created
Cite Us!