CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIe

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIe?

Accepted Answer

rare
autosomal recessvie

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ IIe

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 608779

Question 4

Which enzymes are involved?

Accepted Answer

Conserved oligomeric Golgi complex subunit 7

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIe
Synonym	CDG2E; COG7-CDG
OMIM	608779 OMIM = Online Mendelian Inheritance of Men
Orphanet	79333
Protein (UniProt)	Conserved oligomeric Golgi complex subunit 7
Gene locus	16p12.2
ICD	E77.8
Summary	rare autosomal recessvie
Laboratory findings	Creatine kinase normal/inc (plasma) IEF of serum transferrin, type 2 pattern (serum) Transaminases (ASAT/ALAT) normal/inc (plasma)
Symptoms	decreased body height dysmorphism early death failure to thrive feeding difficulties, poor feeding growth retardation, poor growth heart involvement hepatomegaly (large liver) hyperthermia hypotonia infections (severe or recurrent) limb abnormalities, limb deformities microcephaly (<2 SD for age) onset, infancy onset, neonatal seizures skin, abnormal splenomegaly (large spleen)