CONGENITAL DISORDER OF GLYCOSYLATION CDG-Is

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-Is?

Accepted Answer

very rare
x-linked dominant
mutation in the ALG13 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ Is

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 300884

Question 4

Which enzymes are involved?

Accepted Answer

Putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-Is
Synonym	CDG1S; ALG13-CDG; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36; EIEE36
OMIM	300884 OMIM = Online Mendelian Inheritance of Men
Orphanet	324422
Protein (UniProt)	Putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13
Gene locus	Xq23
ICD	E77.8
Summary	very rare x-linked dominant mutation in the ALG13 gene
Laboratory findings	IEF of serum transferrin, type 1 pattern (serum)
Symptoms	cerebral atrophy contractures, joints developmental delay dysmorphism EEG abnormalities [-] encephalopathy epilepsy hearing defect, deafness hepatomegaly (large liver) hydrocephalus hypotonia infantile spasms infections (severe or recurrent) microcephaly (<2 SD for age) nystagmus onset, childhood onset, infancy optic atrophy psychomotor retardation seizures speech development, delayed, abnormal West syndrome