CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 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, TYPE Iw
Synonym	CDG1W
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
Symptoms	cerebellar atrophy or hypoplasia failure to thrive feeding difficulties, poor feeding hypotonia mental retardation microcephaly (<2 SD for age) onset, neonatal psychomotor retardation seizures