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GENATLAS PHENOTYPE

last update : 02-01-2019

Symbol	CDG2O
Location	2q21.1
Name	congenital disorder of glycosylation II O
Corresponding gene	CCDC115
Main clinical features	storage-disease-like phenotype involving hepatosplenomegaly, which regressed with age, highly elevated bone-derived alkaline phosphatase, elevated aminotransferases, and elevated cholesterol, in combination with abnormal copper metabolism and neurological symptoms early death with liver failure abnormal N- and mucin type O-glycosylation was found on serum proteins, and reduced metabolic labeling of sialic acids was found in fibroblasts (PMID: 26833332))
Genetic determination	autosomal recessive
Function/system disorder	metabolism/carbohydrates
Type	disease

Remark(s)

loss-of-function mutations lead to the inability of the Golgi to perform its core functions: post-translational modification and protein secretion and sorting (PMID: 26833332))