CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIh

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIh?

Accepted Answer

very rare (3 patients)
autosomal recessive
mutation in the gene encoding COG8

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ IIh

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 611182

Question 4

Which enzymes are involved?

Accepted Answer

Conserved oligomeric Golgi complex subunit 8

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIh
Synonym	CDG2H; COG8-CDG
OMIM	611182 OMIM = Online Mendelian Inheritance of Men
Orphanet	95428
Protein (UniProt)	Conserved oligomeric Golgi complex subunit 8
Gene locus	16q22.1
ICD	E77.8
Summary	very rare (3 patients) autosomal recessive mutation in the gene encoding COG8
Laboratory findings	Creatine kinase inc (serum) Sialotransferrins (isoelectrofocussing) inc (serum) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	ataxia bleeding tendencies, hemorrhages cerebellar atrophy or hypoplasia Coagulopathy/Coagulation factors Encephalopathic crisis, acute encephalopathy failure to thrive finger anomalies hypotonia infections (severe or recurrent) mental retardation microcephaly (<2 SD for age) motor retardation MRI, brain, white matter abnormalities [-] onset, infancy progressive neurologic defect psychomotor retardation seizures strabismus white matter changes, abnormalities