Features include always present findings: Seizure, Reduced tissue mannosyl-oligosaccharide glucosidase activity, Enlarged liver (hepatomegaly), and Generalized hypotonia and others. 30 total HPO annotations.

MOGS encodes mannosyl-oligosaccharide glucosidase (837 aa). In the context of N-glycan degradation, cleaves the distal alpha 1,2-linked glucose residue from the Glc(3)Man(9)GlcNAc(2) oligosaccharide precursor in a highly specific manner Highest expression in Thyroid (86.2 TPM) and Spleen (83.4 TPM).

MOGS-congenital disorder of glycosylation is caused by mutations in the MOGS gene on chromosome 2.

The MOGS protein participates in Defective MOGS causes CDG-2b, MOGS removes terminal glucose from Glu3Man9GlcNAc2-CDH1, and Trimming of the first glucose by by mannosyl-oligosaccharide glucosidase pathways.

MOGS is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for MOGS is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for MOGS-congenital disorder of glycosylation has been reported in the published literature.

Phenotype severity distribution: 19 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for MOGS-congenital disorder of glycosylation.

215 publications have been identified in PubMed for MOGS-congenital disorder of glycosylation. Research spans Basic Science / Preclinical (54%), Review / Meta-Analysis (32%), and Epidemiology / Natural History (5%).