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TMEM199-CDG

Disease definition

A rare congenital disorder of glycosylation characterized by chronic, non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolemia, and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported in single cases.

ORPHA:466703

Classification level: Disorder
  • Synonym(s):
    • CDG syndrome type IIp
    • CDG-IIp
    • CDG2P
    • Carbohydrate deficient glycoprotein syndrome type IIp
    • Congenital disorder of glycosylation type 2p
    • Congenital disorder of glycosylation type IIp
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Infancy, Childhood
  • ICD-10: E77.8
  • OMIM: 616829
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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