CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ic

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ic?

Accepted Answer

rare
autosomal recessive
mutations in ALG6 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ Ic; Glukosyltransferase 1-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 603147

Question 4

Which enzymes are involved?

Accepted Answer

Glucosyltransferase 1

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ic
Synonym	CDG1C; ALG6-CDG
OMIM	603147 OMIM = Online Mendelian Inheritance of Men
Orphanet	79320
Protein (UniProt)	Glucosyltransferase 1
Gene locus	1p22.3
ICD	E77.8
Summary	rare autosomal recessive mutations in ALG6 gene
Laboratory findings	Cholesterol dec (serum) Transaminases (ASAT/ALAT) inc (serum) Transferrin (serum)
Symptoms	ataxia cerebellar atrophy or hypoplasia Coagulopathy/Coagulation factors enteropathy, protein-loosing failure to thrive hepatomegaly (large liver) hyperopia hypotonia infections (severe or recurrent) mental retardation motor retardation MRI, brain, abnormalities [-] onset, infancy retinal or macular degeneration seizures strabismus thromboembolism