CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIb

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIb?

Accepted Answer

very rare
autosomal recessive
mutation in the MOGS gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ IIb; Glukosidase 1-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 606056

Question 4

Which enzymes are involved?

Accepted Answer

Mannosyl-oligosaccharide glucosidase (MOGS)

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIb
Synonym	CDG2B; GCS1-CDG
OMIM	606056 OMIM = Online Mendelian Inheritance of Men
Orphanet	79330
Protein (UniProt)	Mannosyl-oligosaccharide glucosidase (MOGS)
Gene locus	2p13.1
ICD	E77.8
Summary	very rare autosomal recessive mutation in the MOGS gene
Laboratory findings	IEF of serum transferrin (serum) Immunglobulin IgD dec (serum) Oligosaccharides inc (urine) Sialotransferrins (isoelectrofocussing) (serum)
Symptoms	bone fractures cerebral atrophy Coagulopathy/Coagulation factors developmental delay dysmorphism epilepsy feeding difficulties, poor feeding finger anomalies hearing defect, deafness hepatomegaly (large liver) hypotonia infantile spasms liver involvement or dysfunction mental retardation motor retardation onset, infancy optic atrophy seizures skeletal changes, skeletal abnormalities skin, pigmentation