U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Congenital disorder of glycosylation, type IIw

Congenital disorder of glycosylation, type IIw

Synonyms
Congenital disorder of glycosylation, type IIw

Summary

Congenital disorder of glycosylation type IIw (CDG2W) is an autosomal dominant metabolic disorder characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins. All reported patients carry the same mutation (602671.0017) (summary by Ng et al., 2021). For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066). [from OMIM]

Available tests

10 tests are in the database for this condition.

Clinical tests (10 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG2W, G6PT, G6PT1, G6PT2, G6PT3, GSD1b, GSD1c, GSD1d, PRO0685, SPX4, TRG-19, TRG19, SLC37A4
    Summary: solute carrier family 37 member 4

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.