CONGENITAL DISORDER OF GLYCOSYLATION CDG-IId

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-IId?

Accepted Answer

rare
autosomal recessive
mutation in the beta-1,4-galactosyltransferase gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ IId; Beta-1,4-Galaktosyltransferase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 607091

Question 4

Which enzymes are involved?

Accepted Answer

Beta-1,4-galactosyltransferase 1

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-IId
Synonym	CDG2D; B4GALT1-CDG
OMIM	607091 OMIM = Online Mendelian Inheritance of Men
Orphanet	79332
Protein (UniProt)	Beta-1,4-galactosyltransferase 1
ExPASy	2.4.1.38
Gene locus	9p21.1
ICD	E77.8
Summary	rare autosomal recessive mutation in the beta-1,4-galactosyltransferase gene
Laboratory findings	Beta-N-acetylglucosaminylglycopeptide beta-1 dec (fibroblasts) Creatine kinase inc (serum) IEF of serum transferrin, type 2 pattern (serum)
Symptoms	cholestasis Coagulopathy/Coagulation factors diarrhea hydrocephalus hypotonia macrocephaly (large calvaria, >2 SD for age) mental retardation myopathy onset, neonatal psychomotor retardation