CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ig

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ig?

Accepted Answer

rare
autosomal recessive
mutations in the ALG12 gene
developmental delay, low IgG, and genital hypoplasia should prompt CDG testing [Eklund et al. 2005]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ Ig; Mannosyltransferase 8-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 607143

Question 4

Which enzymes are involved?

Accepted Answer

Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ig
Synonym	CDG1G; ALG12-CDG
OMIM	607143 OMIM = Online Mendelian Inheritance of Men
Orphanet	79324
Protein (UniProt)	Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase
Gene locus	22q13.33
ICD	E77.8
Summary	rare autosomal recessive mutations in the ALG12 gene developmental delay, low IgG, and genital hypoplasia should prompt CDG testing [Eklund et al. 2005]
Laboratory findings	Cholesterol n/d (serum) IEF of serum transferrin, type 1 pattern (serum) Immunglobulin IgD dec (serum) Immunoglobulins normal/dec (serum) Transferrin (serum)
Symptoms	cardiomyopathy clubfoot dysmorphism edema failure to thrive feeding difficulties, poor feeding gastrointestinal dysmotility genital hypoplasia hypotonia infections (severe or recurrent) intellectual disability/intellectual developmental disorder joint hypermobilty, dislocations, laxity limb abnormalities, limb deformities mental retardation microcephaly (<2 SD for age) motor retardation onset, neonatal prematurity, premature delivery seizures short stature skeletal changes, skeletal abnormalities strabismus