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COG7-congenital disorder of glycosylation

MONDO:0012118

COG7-CDG is a congenital disorder of glycosylation characterized by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.

Also known as: CDG syndrome type IIe, CDG-IIe, CDG2E, COG7-CDG, COG7-congenital disorder of glycosylation, carbohydrate deficient glycoprotein syndrome type IIe, congenital disorder of glycosylation type 2e, congenital disorder of glycosylation type IIe

30 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) Developmental defect during embryogenesis (7) Congenital disorder of glycosylation (6) Disease of genetic or genomic mechanism (2) Congenital disorder of glycosylation type II (0) Defect in conserved oligomeric Golgi complex (0)
Trials to join now! 16 Not yet recruiting 3 Not yet finished but already full! 3 Completed 8
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