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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIp
CDG2P TMEM199-CDG
616829
OMIM = Online Medalian Inheritance of Men
466703
17q11.2
rare
autosomal recessive
mutation in the TMEM199 gene
symptoms
cirrhosis or fibrosis of liver
Coagulopathy/Coagulation factors
hypotonia
liver involvement or dysfunction
onset, adolescent
psychomotor retardation
laboratory finding
IEF of serum transferrin, type 2 pattern abnormalserum
Phosphatase, alkaline increasedserum
Transaminases increasedserum
Cholesterol increasedplasma
Ceruloplasmin decreasedserum
Literature
Ho GWalter JH, Christodoulou JCosteff optic atrophy syndrome: New clinical case and novel molecular findingsJ Inherit Metab Dis002008