CONGENITAL DISORDER OF GLYCOSYLATION CDG-Il

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-Il?

Accepted Answer

very rare
autosomal recessive
mutation in the ALG9 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ IL; Mannosyltransferase 7-9-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 608776

Question 4

Which enzymes are involved?

Accepted Answer

mannosyltransferase 7-9

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-Il
Synonym	CDG IL; ALG9-CDG
OMIM	608776 OMIM = Online Mendelian Inheritance of Men
Orphanet	79328
Protein (UniProt)	mannosyltransferase 7-9
ExPASy	2.4.1.259
Gene locus	11q23.1
ICD	E77.8
Summary	very rare autosomal recessive mutation in the ALG9 gene
Laboratory findings	Albumin normal/dec (serum) Cholesterol normal/dec (serum) IEF of serum transferrin, type 1 pattern (serum) Transferrin (serum)
Symptoms	cerebral atrophy Coagulopathy/Coagulation factors dysmorphism epilepsy failure to thrive hepatomegaly (large liver) hydrops fetalis hypotonia inverted nipples inverted nipples lipodystrophia mental retardation microcephaly (<2 SD for age) motor retardation onset, infancy pericardial effusion renal cysts seizures splenomegaly (large spleen) strabismus