CONGENITAL DISORDER OF GLYCOSYLATION CDG-Iw

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-Iw?

Accepted Answer

rare
autosomal recessive
mutation in the STT3A gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ Iw

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 615596

Question 4

Which enzymes are involved?

Accepted Answer

Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-Iw
Synonym	CDG1W; STT3A-CDG
OMIM	615596 OMIM = Online Mendelian Inheritance of Men
Orphanet	370921
Protein (UniProt)	Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A
Gene locus	11q24.2
ICD	E77.8
Summary	rare autosomal recessive mutation in the STT3A gene
Laboratory findings	Sialotransferrins (isoelectrofocussing) (serum)
Symptoms	cerebellar atrophy or hypoplasia developmental delay failure to thrive feeding difficulties, poor feeding hypotonia intellectual disability/intellectual developmental disorder liver involvement or dysfunction mental retardation microcephaly (<2 SD for age) onset, neonatal optic atrophy psychomotor retardation respiratory distress seizures