CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIj

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIj?

Accepted Answer

rare
autosomal recessive
mutation in the COG4 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ IIj

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613489

Question 4

Which enzymes are involved?

Accepted Answer

Conserved oligomeric Golgi complex subunit 4

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIj
Synonym	CDG2J; COG4-CDG
OMIM	613489 OMIM = Online Mendelian Inheritance of Men
Orphanet	263501
Protein (UniProt)	Conserved oligomeric Golgi complex subunit 4
Gene locus	16q22.1
ICD	E77.8
Summary	rare autosomal recessive mutation in the COG4 gene
Laboratory findings	Phosphatase, alkaline inc (serum) Thrombocytes, Platelets dec (blood) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	ataxia Coagulopathy/Coagulation factors Coagulopathy/Coagulation factors diarrhea dysmorphism failure to thrive hepatomegaly (large liver) hyperreflexia hypotonia infections (severe or recurrent) irritability liver failure microcephaly (<2 SD for age) nystagmus onset, infancy seizures speech development, delayed, abnormal