CONGENITAL DISORDER OF GLYCOSYLATION CDG-Iy

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-Iy?

Accepted Answer

rare
x-linked recessive
mutation in the SSR4 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ Iy

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 300934

Question 4

Which enzymes are involved?

Accepted Answer

Translocon-associated protein subunit delta

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-Iy
Synonym	CDG1Y; SSR4-CDG
OMIM	300934 OMIM = Online Mendelian Inheritance of Men
Orphanet	370927
Protein (UniProt)	Translocon-associated protein subunit delta
Gene locus	Xq28
ICD	E77.8
Summary	rare x-linked recessive mutation in the SSR4 gene
Laboratory findings	Carbohydrate-deficient transferrins (serum) Sialotransferrins (isoelectrofocussing) (serum)
Symptoms	bleeding tendencies, hemorrhages clinodactyly dysmorphism failure to thrive feeding difficulties, poor feeding hypospadia hypotonia joint hypermobilty, dislocations, laxity macrocephaly (large calvaria, >2 SD for age) onset, neonatal psychomotor retardation respiratory distress seizures strabismus