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

MOGS-congenital disorder of glycosylation

Synonyms
CDG 2B; CDG IIb; Congenital disorder of glycosylation type 2B; GLUCOSIDASE I DEFICIENCY; MOGS-CDG; MOGS-CDG (CDG-IIb)
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate, retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1). [from SNOMEDCT_US]

Available tests

36 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (36 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG2B, CWH41, DER7, GCS1, MOGS
    Summary: mannosyl-oligosaccharide glucosidase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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