congenital disorder of glycosylation type IIw

Term ID

DOID:0051051

Synonyms

Definition

A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. https://pubmed.ncbi.nlm.nih.gov/33964207/

References

• MIM:619525

Ontology

Human Disease   ( DOID:0051051 )