Details of Disease

General Information of Disease (ID: DISFFUBJ)

Disease Name PGM1-congenital disorder of glycosylation
Synonyms
congenital disorder of glycosylation, type It; phosphoglucomutase 1 deficiency; GSDXIV; type 14 glycogenosis; GSD 14; glycogen storage disease due to phosphoglucomutase deficiency; phosphoglucomutase deficiency type 1; GSD type 14; CDG it; glycogen storage disease 14; Pgm1 deficiency; congenital disorder of glycosylation type It; PGM1-CDG; PGM1-congenital disorder of glycosylation; CDG1T; congenital disorder of glycosylation type 1t; CDG-It; CDG syndrome type It; phosphoglucomutase-1 deficiency
Disease Hierarchy
DISBHDU9: Familial dilated cardiomyopathy
DISBHHT1: Congenital disorder of glycosylation type I
DIST8BQR: Disorder of protein N-glycosylation
DISFFUBJ: PGM1-congenital disorder of glycosylation
Disease Identifiers
MONDO ID
MONDO_0013968
MESH ID
C567859
UMLS CUI
C2752015
OMIM ID
614921
MedGen ID
414536
Orphanet ID
319646
SNOMED CT ID
783717008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
PGM1 DEA3VM1 moderate Genetic Variation [1]
PGM1 DEA3VM1 Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PGM1 OT3VM4JX Definitive Autosomal recessive [2]
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References

1 Induced Structural Disorder as a Molecular Mechanism for Enzyme Dysfunction in Phosphoglucomutase 1 Deficiency.J Mol Biol. 2016 Apr 24;428(8):1493-505. doi: 10.1016/j.jmb.2016.02.032. Epub 2016 Mar 10.
2 Muscle glycogenosis due to phosphoglucomutase 1 deficiency. N Engl J Med. 2009 Jul 23;361(4):425-7. doi: 10.1056/NEJMc0901158.