CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq; CDG2Q

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq; CDG2Q?

Accepted Answer

very rare

autosomal recessve

mutation in the COG2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 617395

Question 3

Which enzymes are involved?

Accepted Answer

Conserved oligomeric Golgi complex subunit 2

Disease	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq; CDG2Q
Synonym	CDG IIq; COG2-CDG
OMIM	617395 OMIM = Online Mendelian Inheritance of Men
Orphanet	435934
Protein (UniProt)	Conserved oligomeric Golgi complex subunit 2
ExPASy	---
Gene locus	1q42.2
ICD	E77.8
Summary	very rare autosomal recessve mutation in the COG2 gene
Laboratory findings	Asialotransferrin inc (serum) Ceruloplasmin inc (serum) Copper dec (serum) Disialotransferrin inc (serum) Tetrasialotransferrin dec (serum)
Symptoms	cerebral atrophy Coagulopathy/Coagulation factors dysmorphism intellectual disability/intellectual developmental disorder liver involvement or dysfunction microcephaly (<2 SD for age) onset, infancy psychomotor retardation seizures spastic diplegia/quadriplegia/tetraplegia