CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIL

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIL?

Accepted Answer

rare
autosomal recessive
mutation in the COG6 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ IIL

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614576

Question 4

Which enzymes are involved?

Accepted Answer

Conserved oligomeric Golgi complex subunit 6

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIL
Synonym	CGD2L; COG6-CDG
OMIM	614576 OMIM = Online Mendelian Inheritance of Men
Orphanet	464443
Protein (UniProt)	Conserved oligomeric Golgi complex subunit 6
Gene locus	13q14.11
ICD	E77.8
Summary	rare autosomal recessive mutation in the COG6 gene
Laboratory findings	IEF of serum transferrin, type 2 pattern (serum) Immunglobulin IgD dec (serum)
Symptoms	bleeding tendencies, hemorrhages cirrhosis or fibrosis of liver diarrhea early death failure to thrive growth retardation, poor growth hepatomegaly (large liver) hydrops fetalis hyperkeratosis hyperthermia hypotonia infections (severe or recurrent) liver involvement or dysfunction microcephaly (<2 SD for age) onset, neonatal psychomotor retardation seizures