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GENATLAS PHENOTYPE

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))