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ALG8 congenital disorder of glycosylation

Synonyms
ALG8-CDG; ALG8-CDG (CDG-Ih); CDG 1H; CDG Ih; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; Congenital disorder of glycosylation type 1H
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

CDGs, previously called carbohydrate-deficient glycoprotein syndromes, grew from hereditary multisystem disorders first recognized by Jaeken et al. (1980). The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is routinely determined by isoelectric focusing of serum transferrin. Type I CDG comprises those disorders in which there is a defect in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans. For a general discussion of CDGs, see CDG1A (212065). CDG1H is a severe form of CDG. The majority of patients have brain involvement, liver pathology, gastrointestinal symptoms, dysmorphism (including brachydactyly), eye involvement (especially cataract), and skin symptoms. Most patients die within the first year of life (summary by Marques-da-Silva et al., 2017). [from OMIM]

Available tests

38 tests are in the database for this condition.

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Clinical tests (38 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG1H, PCLD3, ALG8
    Summary: ALG8 alpha-1,3-glucosyltransferase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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