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References OMIM Gene GeneReviews HGMD HGNC
last update : 07-06-2019
Symbol CDG1T
Location 1p31.3
Name congenital disorder of glycosylation, type 1T
Corresponding gene PGM1
Main clinical features
  • characterized by a wide range of clinical manifestations and severity; most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase
  • less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/carbohydrates
    Type disease
    Remark(s) . long-term galactose supplementation improves the clinical progression of PGM1 deficiency (PMID: 30982613))