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congenital disorder of glycosylation (CDG) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital disorder of glycosylation

MONDO:0015286

Also known as:CDGcarbohydrate deficient glycoprotein syndromecarbohydrate-deficient glycoprotein syndromes

Find Clinical TrialsTrials

Overview

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.

OnsetCHILDHOOD, CONGENITAL

Clinical Trials6 registered · 3 recruiting

Diagnosis

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

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

6 clinical trials registered, 3 recruiting. Interventions under study include drug therapy and other interventions. Pipeline includes 2 PHASE2, 1 PHASE1. Research is primarily sponsored by academic and government institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT05402384](https://clinicaltrials.gov/study/NCT05402384)

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:137

GARD

Genetic and Rare Diseases Info Center

GARD:10307

Questions for Your Care Team

→Are any of the 6 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Research Type	Count	% of Total
Laboratory research	54	38%
Patient case studies	51	35%
New treatment approaches	12	8%
Research summaries	8	6%
Disease patterns and progression	8	6%
Testing and diagnosis research	6	4%
Other research	5	3%

Kisho

congenital disorder of glycosylation

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Functional characterization of a novel ZIP8 variant causing impaired manganese homeostasis and congenital disorders of glycosylation.

Tissue-specific expression and regulation of congenital disorders of glycosylation genes: A GTEx-based in silico study.

congenital disorder of glycosylation

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Functional characterization of a novel ZIP8 variant causing impaired manganese homeostasis and congenital disorders of glycosylation.

Tissue-specific expression and regulation of congenital disorders of glycosylation genes: A GTEx-based in silico study.