CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIc

rare (<1:1000000) autosomal recessive mutation in the SLC35C1 gene

CDG-Syndrom Typ IIc; Leukozytenadhäsionsdefekt Typ II; Rambam-Hasharon-Syndrom

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIc?

Accepted Answer

rare (<1:1000000)
autosomal recessive
mutation in the SLC35C1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ IIc; Leukozytenadhäsionsdefekt Typ II; Rambam-Hasharon-Syndrom

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 266265

Question 4

Which enzymes are involved?

Accepted Answer

GDP-fucose transporter 1

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIc
Synonym	CDG2C; SLC35C1-CDG; LEUKOCYTE ADHESION DEFICIENCY, TYPE II; RAMBAM-HASHARON SYNDROME; CDG-IIc
OMIM	266265 OMIM = Online Mendelian Inheritance of Men
Orphanet	99843
Protein (UniProt)	GDP-fucose transporter 1
Gene locus	11p11.2
ICD	D84.8
Summary	rare (<1:1000000) autosomal recessive mutation in the SLC35C1 gene
Laboratory findings	IEF of serum transferrin (serum) Sialotransferrins (isoelectrofocussing) (serum)
Symptoms	cerebral atrophy decreased body height dysmorphism growth retardation, poor growth hypotonia infections (severe or recurrent) mental retardation microcephaly (<2 SD for age) motor retardation onset, childhood onset, infancy psychomotor retardation seizures short stature