CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ir

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ir?

Accepted Answer

very rare
autosomal recessive
mutation in the DDOST gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ Ir

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614507

Question 4

Which enzymes are involved?

Accepted Answer

Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ir
Synonym	CDG1R; DDOST-CDG
OMIM	614507 OMIM = Online Mendelian Inheritance of Men
Orphanet	300536
Protein (UniProt)	Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit
Gene locus	1p36.12
ICD	E77.8
Summary	very rare autosomal recessive mutation in the DDOST gene
Laboratory findings	IEF of serum transferrin, type 1 pattern (serum)
Symptoms	constipation failure to thrive hypotonia infections (severe or recurrent) liver involvement or dysfunction onset, infancy psychomotor retardation speech development, delayed, abnormal strabismus