CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ik

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ik?

Accepted Answer

rare
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ Ik; Mannosyltransferase 1-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 608540

Question 4

Which enzymes are involved?

Accepted Answer

Chitobiosyldiphosphodolichol beta-mannosyltransferase

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ik
Synonym	CDG1K; ALG1-CDG
OMIM	608540 OMIM = Online Mendelian Inheritance of Men
Orphanet	79327
Protein (UniProt)	Chitobiosyldiphosphodolichol beta-mannosyltransferase
ExPASy	2.4.1.142
Gene locus	16p13.3
ICD	E77.8
Summary	rare autosomal recessive
Laboratory findings	beta-1,4-mannosyltransferase dec (fibroblasts) IEF of serum transferrin, type 1 pattern (serum) Transferrin (serum)
Symptoms	apnea ascites blindness, visual loss, visual impairment cardiomyopathy cerebral atrophy Coagulopathy/Coagulation factors diarrhea dysmorphism early death epilepsy hepatomegaly (large liver) hydrops fetalis hypotonia microcephaly (<2 SD for age) onset, fetus onset, neonatal seizures splenomegaly (large spleen)