CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ix

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ix?

Accepted Answer

very rare
autosomal recessive
mutation in the STT3B gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ Ix

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 615597

Question 4

Which enzymes are involved?

Accepted Answer

Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ix
Synonym	CDG1X; STT3B-CDG
OMIM	615597 OMIM = Online Mendelian Inheritance of Men
Orphanet	370924
Protein (UniProt)	Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B
Gene locus	3p23
ICD	E77.8
Summary	very rare autosomal recessive mutation in the STT3B gene
Laboratory findings	Sialotransferrins (isoelectrofocussing) (serum)
Symptoms	cerebellar atrophy or hypoplasia cryptorchism early death EEG abnormalities [-] failure to thrive feeding difficulties, poor feeding growth retardation, poor growth hypotonia liver involvement or dysfunction mental retardation microcephaly (<2 SD for age) onset, neonatal optic atrophy psychomotor retardation seizures tachypnea, hyperpnea, dyspnea, hyperventilation thrombopenia, thrombocytopenia