congenital disorder of glycosylation
Findings
No curated finding names congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.
Definition from the Mondo Disease Ontology (MONDO:0015286), read 2026-09-29. CC BY 4.0.
Genes
19 genes
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.
- ALG14HGNC:28287
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · ClinGen · Autosomal recessive · 2024
- GALNT2HGNC:4124
- Strong · PanelApp Australia · Autosomal recessive · 2025
- MAN2B2HGNC:29623
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- SSR3HGNC:11325
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- STX5HGNC:11440
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- UGGT1HGNC:15663
- Moderate · G2P · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (25)
- A4GALT-congenital disorder of glycosylation
- ALG10-congenital disorder of glycosylation
- ALG14-congenital disorder of glycosylation
- autosomal recessive limb-girdle muscular dystrophy type 2P
- B3GALT6-congenital disorder of glycosylation
- congenital disorder of glycosylation syndrome type 4
- congenital disorder of glycosylation type I
- congenital disorder of glycosylation type II
- congenital disorder of glycosylation with defective fucosylation
- congenital disorder of glycosylation, type 1DD
- congenital disorder of glycosylation, type Ibb
- congenital disorder of glycosylation, type Iw, autosomal dominant
- congenital muscular dystrophy with intellectual disability
- disorder of multiple glycosylation
- disorder of protein N-glycosylation
- disorder of protein O-glycosylation
Other names
4 names
Resolves to: congenital disorder of glycosylation
- Also called
- carbohydrate deficient glycoprotein syndromecarbohydrate-deficient glycoprotein syndromeCDGCongenital Disorders of Glycosylation