MOGS-congenital disorder of glycosylation
Findings
No curated finding names MOGS-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
MOGS-CDG is 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).
Definition from the Mondo Disease Ontology (MONDO:0011629), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
50 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating IgA concentrationHPOHP:0002720
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Demyelinating peripheral neuropathyHPOHP:0007108
- 1 of 1 reported patient
- EEG with burst suppressionHPOHP:0010851
- 1 of 1 reported patient
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 1 of 1 reported patient
- Generalized edemaHPOHP:0007430
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MOGSHGNC:24862
- Definitive · ClinGen · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: MOGS-congenital disorder of glycosylation
- Also called
- carbohydrate deficient glycoprotein syndrome type IIbCDG syndrome type IIbCDG-IIbCDG2Bcongenital disorder of glycosylation type 2bcongenital disorder of glycosylation type IIbglucosidase 1 deficiencyMOGS-CDG