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COG7-CDG

Disease definition

COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.

ORPHA:79333

Classification level: Disorder
  • Synonym(s):
    • CDG syndrome type IIe
    • CDG-IIe
    • CDG2E
    • Carbohydrate deficient glycoprotein syndrome type IIe
    • Congenital disorder of glycosylation type 2e
    • Congenital disorder of glycosylation type IIe
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E77.8
  • ICD-11: 5C54.2
  • OMIM: 608779
  • UMLS: C2931010
  • MeSH: -
  • GARD: 9842
  • MedDRA: -

  A summary on this disease is available in Deutsch (2006) Español (2006) Français (2006) Italiano (2006) Nederlands (2006)

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.