Congenital disorder of glycosylation type 1E

MONDO:0012123

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.

Also known as: CDG syndrome type Ie, CDG-Ie, CDG1E, CDGIe, DPM1 congenital disorder of glycosylation, Dol-P-mannosyltransferase deficiency, carbohydrate deficient glycoprotein syndrome type Ie, congenital disorder of glycosylation caused by mutation in DPM1

26 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inborn errors of metabolism (42) Human disease (14) Congenital disorder of glycosylation (6) Disease of genetic or genomic mechanism (2) Congenital disorder of glycosylation type I (0) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0)

Trials to join now! 14 Not yet recruiting 3 Not yet finished but already full! 3 Completed 6

Congenital disorder of glycosylation type 1E

Broader categories

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Study on COVID-19 and metabolic disorders pulled before it began