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GTR Home > Conditions/Phenotypes > DPAGT1-congenital disorder of glycosylation

DPAGT1-congenital disorder of glycosylation

Synonyms
CDG 1J; CDG Ij; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; Congenital disorder of glycosylation type 1J; DPAGT1-CDG; DPAGT1-CDG (CDG-Ij)
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Like all CDGs, which are caused by a shortage of precursor monosaccharide phosphate or deficiencies in the glycosyltransferases required for lipid-linked oligosaccharide precursor (LLO) synthesis, CDG Ij is caused by a defect in the formation of DPAGT1, the first dolichyl-linked intermediate of the protein N-glycosylation pathway. For a general discussion of CDGs, see CDG1A (212065). [from OMIM]

Available tests

46 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (46 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALG7, CDG-Ij, CDG1J, CMS13, CMSTA2, D11S366, DGPT, DPAGT, DPAGT2, G1PT, GPT, UAGT, UGAT, DPAGT1
    Summary: dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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