CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ie

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ie?

Accepted Answer

rare
autosomal recessive
mutation in the DPM1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ Ie; Dol-P-Mannosyltransferase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 608799

Question 4

Which enzymes are involved?

Accepted Answer

dolichol-phosphate-mannosyltransferase subunit 1

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ie
Synonym	CDG1E; DPM1-CDG
OMIM	608799 OMIM = Online Mendelian Inheritance of Men
Orphanet	79322
Protein (UniProt)	dolichol-phosphate-mannosyltransferase subunit 1
ExPASy	2.4.1.83
Gene locus	20q13.13
ICD	E77.8
Summary	rare autosomal recessive mutation in the DPM1 gene
Laboratory findings	Antithrombin III (AT III) dec (plasma) Creatine kinase inc (serum) IEF of serum transferrin, type 1 pattern (serum)
Symptoms	ataxia blindness, visual loss, visual impairment dysmorphism encephalopathy hemangioma hydrops fetalis hypotonia liver involvement or dysfunction mental retardation microcephaly (<2 SD for age) motor retardation onset, neonatal optic atrophy seizures speech development, delayed, abnormal strabismus teleangiectasia