CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ii

very rare (<1:1000000) autosomal recessive mutation in the ALG2 gene

CDG-Syndrom Typ Ii; Mannosyltransferase 2-Mangel

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ii?

Accepted Answer

very rare (<1:1000000)
autosomal recessive
mutation in the ALG2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ Ii; Mannosyltransferase 2-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 607906

Question 4

Which enzymes are involved?

Accepted Answer

Mannosyltransferase 2

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ii
Synonym	CDG1I; ALG2-CDG
OMIM	607906 OMIM = Online Mendelian Inheritance of Men
Orphanet	79326
Protein (UniProt)	Mannosyltransferase 2
ExPASy	2.4.1.132
Gene locus	9q22.33
ICD	E77.8
Summary	very rare (<1:1000000) autosomal recessive mutation in the ALG2 gene
Laboratory findings	Creatine kinase normal/inc (plasma) IEF of serum transferrin, type 1 pattern (serum)
Symptoms	cataract cleft eyelid (coloboma) Coagulopathy/Coagulation factors developmental delay epilepsy hepatomegaly (large liver) hyperreflexia hypotonia mental retardation motor retardation MRI, brain, abnormalities [-] nystagmus onset, infancy seizures