CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIo

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIo?

Accepted Answer

rare
autosomal recessive
mutation in the CCDC115 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ IIo

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 616828

Question 4

Which enzymes are involved?

Accepted Answer

Coiled-coil domain-containing protein 115

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIo
Synonym	CDG2O; CCDC115-CDG
OMIM	616828 OMIM = Online Mendelian Inheritance of Men
Orphanet	468684
Protein (UniProt)	Coiled-coil domain-containing protein 115
Gene locus	2q21.2
ICD	E88.8
Summary	rare autosomal recessive mutation in the CCDC115 gene
Laboratory findings	Ceruloplasmin dec (serum) Cholesterol inc (serum) Creatine kinase inc (serum) IEF of serum transferrin, type 2 pattern (serum) Phosphatase, alkaline inc (serum) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	cirrhosis or fibrosis of liver dysmorphism hepatomegaly (large liver) hypotonia jaundice liver failure muscle atrophy onset, infancy psychomotor retardation ptosis (drooping eyelid) seizures splenomegaly (large spleen)