CONGENITAL DISORDER OF GLYCOSYLATION CDG-Id

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-Id?

Accepted Answer

very rare
autosomal recessive
mutation in the ALG3 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ Id; Mannosyltransferase 6-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 601110

Question 4

Which enzymes are involved?

Accepted Answer

alpha 1,3 Mannosyltransferase, endoplasmic reticulum

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-Id
Synonym	CDG1D; ALG3-CDG
OMIM	601110 OMIM = Online Mendelian Inheritance of Men
Orphanet	79321
Protein (UniProt)	alpha 1,3 Mannosyltransferase, endoplasmic reticulum
ExPASy	2.4.1.258
Gene locus	3q27.1
ICD	E77.8
Summary	very rare autosomal recessive mutation in the ALG3 gene
Laboratory findings	D-Glucose normal/dec (serum) IEF of serum transferrin, type 1 pattern (serum) Transferrin (serum)
Symptoms	cardiomyopathy cerebellar atrophy or hypoplasia chorioretinal colobomata cirrhosis or fibrosis of liver clubfoot dysmorphism EEG abnormalities [-] encephalopathy epilepsy failure to thrive hearing defect, deafness high arched palate hypertonia, spasticity hypoglycemia hypotonia macroglossia, large/protuding tongue mental retardation microcephaly (<2 SD for age) motor retardation onset, childhood onset, infancy onset, neonatal optic atrophy psychomotor retardation seizures