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GTR Home > Conditions/Phenotypes > ALG1-congenital disorder of glycosylation

ALG1-congenital disorder of glycosylation

Synonyms
ALG1-CDG; ALG1-CDG (CDG-Ik); CDG 1K; CDG Ik; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; Congenital disorder of glycosylation type 1K
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Congenital disorders of glycosylation (CDGs) comprise a group of multisystem diseases with mostly severe psychomotor and mental retardation. Type I CDG comprises those disorders in which there are defects that affect biosynthesis of dolichol-linked oligosaccharides in the cytosol or the endoplasmic reticulum (ER), as well as defects involving the transfer of oligosaccharides onto nascent glycoproteins. Type II CDG comprises all defects of further trimming and elongation of N-linked oligosaccharides in the ER and Golgi (Schwarz et al., 2004). CDG1K is a type I CDG characterized by predominant neurologic involvement. Survival ranges from the second day of life to adulthood. The liver is affected in a minority of patients and shows hepatomegaly, edema, ascites, cholestatic jaundice, portal hypertension, and Budd-Chiari syndrome (summary by Marques-da-Silva et al., 2017). For a general discussion of CDGs, see CDG1A (212065). [from OMIM]

Available tests

43 tests are in the database for this condition.

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Clinical tests (43 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG1K, HMAT1, HMT-1, HMT1, MT-1, Mat-1, hMat-1, ALG1
    Summary: ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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