CONGENITAL DISORDER OF GLYCOSYLATION CDG-Io

rare (<1:1000000) autosomal recessive mutation in the DPM3 gene

CDG-Syndrom Typ Io; Dolichol-phosphate mannosyltransferase subunit 3

Dolichol-phosphate mannosyltransferase subunit 3

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-Io?

Accepted Answer

rare (<1:1000000)
autosomal recessive
mutation in the DPM3 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ Io; Dolichol-phosphate mannosyltransferase subunit 3

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 612937

Question 4

Which enzymes are involved?

Accepted Answer

Dolichol-phosphate mannosyltransferase subunit 3

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-Io
Synonym	CDG1O; DPM3-CDG
OMIM	612937 OMIM = Online Mendelian Inheritance of Men
Orphanet	263494
Protein (UniProt)	Dolichol-phosphate mannosyltransferase subunit 3
Gene locus	1q22
ICD	E77.8
Summary	rare (<1:1000000) autosomal recessive mutation in the DPM3 gene
Laboratory findings	Creatine kinase inc (plasma) Transaminases (ASAT/ALAT) inc (plasma) Transferrin (serum)
Symptoms	cardiomyopathy muscle weakness onset, childhood strokelike episodes