U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > COG7 congenital disorder of glycosylation

COG7 congenital disorder of glycosylation

Synonyms
CDG 2E; CDG IIe; COG7-CDG (CDG-IIe); CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe; Congenital disorder of glycosylation type 2E
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

CDG IIe is caused by a mutation that impairs the integrity of the conserved oligomeric Golgi (COG) complex and alters Golgi trafficking, resulting in the disruption of multiple glycosylation pathways. For a general discussion of CDGs, see CDG1A (212065). [from OMIM]

Available tests

35 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (35 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG2E, COG7
    Summary: component of oligomeric golgi complex 7

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.