What is CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIg?

rare autosomal recessive mutation in the COG1 gene

Which enzymes are involved?

Conserved oligomeric Golgi complex subunit 1

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIg
Synonym	CDG2G; COG1-CDG
OMIM	611209 OMIM = Online Mendelian Inheritance of Men
Orphanet	263508
Protein (UniProt)	Conserved oligomeric Golgi complex subunit 1
Gene locus	17q25.1
ICD	E77.8
Summary	rare autosomal recessive mutation in the COG1 gene
Laboratory findings	IEF of serum transferrin, type 2 pattern (serum) Sialotransferrins (isoelectrofocussing) inc (serum)
Symptoms	microcephaly (<2 SD for age) cardiac involvement, cardiac defects cardiomyopathy cardiomyopathy, hypertrophic cerebellar atrophy or hypoplasia cerebral atrophy costovertebral abnormalities dwarfism dysmorphism feeding difficulties, poor feeding hearing defect, deafness hepatomegaly (large liver) hypotonia psychomotor retardation splenomegaly (large spleen) thrombopenia, thrombocytopenia anemia cryptorchism developmental delay failure to thrive growth retardation, poor growth hydronephrosis hypospadia infections (severe or recurrent) intrauterine growth retardation limb abnormalities, limb deformities mental retardation onset, infancy onset, neonatal renal failure, acute/chronic skeletal changes, skeletal abnormalities speech development, delayed, abnormal