COG8-CDG (CDG-IIh)
Alternate names[edit | edit source]
Congenital disorder of glycosylation, type IIh ; CDG syndrome type IIh; CDG-IIh; CDG2H; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type 2h; Congenital disorder of glycosylation type IIh; CDG IIh; COG8-CDG
Definition[edit | edit source]
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.
Cause[edit | edit source]
The disease is caused by mutations in the COG8 gene, which encodes a subunit of the COG complex. This complex is involved vesicle transport in the Golgi apparatus.
NIH genetic and rare disease info[edit source]
COG8-CDG (CDG-IIh) is a rare disease.
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