Congenital Disorder of Glycosylation, Type It (CDG1T)

Alias:

Glycogen Storage Disease Xiv

Cdg1t

Congenital Disorder of Glycosylation Type It

Congenital Disorder of Glycosylation 1t

Phosphoglucomutase 1 Deficiency

Pgm1 Deficiency

Gsd Xiv

Cdg It

Cdg-It

Cdgit

Gsd14

Pgm1-Related Congenital Disorder of Glycosylation

Glycosylation, Congenital Disorder of, Type It

Congenital Disorder of Glycosylation Type 1t

Pgm1-Congenital Disorder of Glycosylation

Congenital Disorder of Glycosylation It

Phosphoglucomutase-1 Deficiency

Cdg Syndrome Type It

Pgm1-Cdg

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Disorder of Glycosylation, Type It, also known as glycogen storage disease xiv, is related to congenital disorder of glycosylation, type in and glycogen storage disease, and has symptoms including fatigue and muscle weakness. An important gene associated with Congenital Disorder of Glycosylation, Type It is PGM1 (Phosphoglucomutase 1). The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include liver and thyroid, and related phenotypes are hypoglycemia and growth delay

Related ID：

MALACARDS：CNG379

OMIM：614921

MESH：D006008