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GTR Home > Conditions/Phenotypes > CCDC115-CDG

CCDC115-CDG

Synonyms
CDG IIo; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Congenital disorder of glycosylation type IIo (CDG2O) is an autosomal recessive metabolic disorder characterized by infantile onset of progressive liver failure, hypotonia, and delayed psychomotor development. Laboratory abnormalities include elevated liver enzymes, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by Jansen et al., 2016). For a general discussion of CDGs, see CDG1A (212065). [from OMIM]

Available tests

13 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG2O, ccp1, CCDC115
    Summary: coiled-coil domain containing 115

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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