CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG-IIi

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG-IIi?

Accepted Answer

rare
autosomal recesive
mutation in the COG5 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ IIi;

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613612

Question 4

Which enzymes are involved?

Accepted Answer

Conserved oligomeric Golgi complex subunit 5

Disease	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG-IIi
Synonym	CDG2I; COG5-CDG
OMIM	613612 OMIM = Online Mendelian Inheritance of Men
Orphanet	263487
Protein (UniProt)	Conserved oligomeric Golgi complex subunit 5
Gene locus	7q22.3
ICD	E77.8
Summary	rare autosomal recesive mutation in the COG5 gene
Laboratory findings	IEF of serum transferrin, type 2 pattern (serum) Sialotransferrins (isoelectrofocussing) inc (serum)
Symptoms	blindness, visual loss, visual impairment cerebellar atrophy or hypoplasia cerebral atrophy dwarfism epilepsy hearing defect, deafness hepatomegaly (large liver) hypotonia mental retardation microcephaly (<2 SD for age) onset, childhood onset, infancy psychomotor retardation seizures skoliosis, kyphoskoliosis strabismus