CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIp

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIp?

Accepted Answer

rare
autosomal recessive
mutation in the TMEM199 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ IIp

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 616829

Question 4

Which enzymes are involved?

Accepted Answer

Transmembrane protein 199

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIp
Synonym	CDG2P; TMEM199-CDG
OMIM	616829 OMIM = Online Mendelian Inheritance of Men
Orphanet	466703
Protein (UniProt)	Transmembrane protein 199
Gene locus	17q11.2
ICD	E88.8
Summary	rare autosomal recessive mutation in the TMEM199 gene
Laboratory findings	Ceruloplasmin dec (serum) Cholesterol inc (plasma) IEF of serum transferrin, type 2 pattern (serum) Phosphatase, alkaline inc (serum) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	cirrhosis or fibrosis of liver Coagulopathy/Coagulation factors hypotonia liver involvement or dysfunction onset, adolescent psychomotor retardation