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GTR Home > Conditions/Phenotypes > ALG6-congenital disorder of glycosylation 1C

ALG6-congenital disorder of glycosylation 1C

Synonyms
ALG6-CDG (CDG-Ic); CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE I, WITH DEFICIENT GLYCOSYLATION OF DOLICHOL-LINKED OLIGOSACCHARIDE; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE V; CDG 1C; CDG Ic; Congenital disorder of glycosylation type 1C; Congenital disorder of glycosylation, type Ic
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Congenital disorders of glycosylation, previously called carbohydrate-deficient glycoprotein syndromes (CDGSs), are caused by defects in mannose addition during N-linked oligosaccharide assembly. CDGs can be divided into 2 types, depending on whether they impair lipid-linked oligosaccharide (LLO) assembly and transfer (CDG I), or affect trimming of the protein-bound oligosaccharide or the addition of sugars to it (CDG II) (Orlean, 2000). CDG Ic is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy. It is the second largest subtype of CDG (summary by Sun et al., 2005). For a discussion of the classification of CDGs, see CDG1A (212065). Freeze and Aebi (1999) reviewed CDG Ib (602579) and CDG Ic. [from OMIM]

Available tests

54 tests are in the database for this condition.

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Clinical tests (54 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG1C, ALG6
    Summary: ALG6 alpha-1,3-glucosyltransferase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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