Orphanet: COG8 CDG
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COG8-CDG

Disease definition

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.

ORPHA:95428

Classification level: Disorder
  • Synonym(s):
    • CDG syndrome type IIh
    • CDG-IIh
    • CDG2H
    • Carbohydrate deficient glycoprotein syndrome type IIh
    • Congenital disorder of glycosylation type 2h
    • Congenital disorder of glycosylation type IIh
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E77.8
  • OMIM: 611182
  • UMLS: C1970021
  • MeSH: -
  • GARD: 12411
  • MedDRA: -

Summary

Epidemiology

So far, only two cases have been described.

Etiology

The disease is caused by mutations in the COG8 gene, which encodes a subunit of the COG complex. This complex is involved vesicle transport in the Golgi apparatus.

- Last update: September 2007

  A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)

Detailed information

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.