How is COG4-congenital disorder of glycosylation inherited?

COG4-congenital disorder of glycosylation follows an autosomal recessive inheritance pattern. This means a child must inherit a copy of the altered gene from both parents to develop the condition. Parents who each carry one copy typically do not show symptoms.

How rare is COG4-congenital disorder of glycosylation?

COG4-congenital disorder of glycosylation is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is COG4-congenital disorder of glycosylation diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for COG4-congenital disorder of glycosylation?

Information about treatment is currently limited for this condition.

What complications can arise from COG4-congenital disorder of glycosylation?

Since only one patient has been reported with COG4-congenital disorder of glycosylation, we don't know all the complications that might occur. The known symptoms include seizures and muscle tone issues, which could lead to further health problems. It's important for families to work closely with healthcare providers to monitor any changes.

How does COG4-congenital disorder of glycosylation affect daily life?

Living with COG4-congenital disorder of glycosylation may involve managing symptoms like seizures and muscle tone issues. Families may need to adapt daily routines to accommodate physical needs and ensure safety. Support from healthcare professionals can help families navigate these challenges.

What is the prognosis for someone with COG4-congenital disorder of glycosylation?

Currently, there is limited information about the long-term outlook for individuals with COG4-congenital disorder of glycosylation. Since only one case has been documented, we cannot provide a clear prognosis. Families should stay in touch with medical experts for ongoing support and information.

Are there any specialists recommended for managing COG4-congenital disorder of glycosylation?

Due to the rarity of COG4-congenital disorder of glycosylation, specific specialists may not be widely available. However, families should consider consulting with geneticists, neurologists, and other healthcare providers familiar with congenital disorders of glycosylation. These experts can help manage symptoms and provide tailored care.

Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

COG4-congenital disorder of glycosylation - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Digestive system	11	Hepatic failure, Enlarged liver (hepatomegaly), Liver scarring (cirrhosis) (cirrhosis)
Brain and nerves	9	Seizure, Ataxia, Irritability
Blood and immune system	6	Enlarged spleen (splenomegaly), Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections
Muscles	4	Frontotemporal cerebral atrophy, Axial hypotonia, Brain shrinkage (cerebral atrophy)
Growth and development	3	Failure to thrive, Growth delay, Failure to thrive in infancy
Lab test results	2	Elevated circulating alkaline phosphatase concentration, Elevated circulating hepatic transaminase concentration
Head and neck	2	Microcephaly, Abnormal facial shape
Lungs and breathing	2	Recurrent respiratory infections, Recurrent upper respiratory tract infections
Pregnancy and birth	2	Generalized neonatal hypotonia, Neonatal sepsis
Eyes	1	Nystagmus
Arms and legs	1	Limb hypertonia

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for COG4-congenital disorder of glycosylation. The disease remains an area of unmet medical need.

Gene therapy approaches for COG4-congenital disorder of glycosylation have been reported in the published literature.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Saul-Wilson syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with Saul-Wilson Syndrome

System/Concern	Evaluation	Comment
Constitutional	Measurement of HT, WT, HC	Assess for evidence of linear growth failure using SWS-specific growth charts. Gastrointestinal/
Feeding	Gastroenterology/ nutrition/ feeding team eval	Avoid overfeeding.
Development	Developmental assessment	To incl motor speech/language eval
Musculoskeletal	Refer to physiatry clinic (OT/PT, rehab specialist).	To evaluate fine gross motor skills, mobility, activities of daily living Refer to orthopedist.
Eyes	Ophthalmologic eval	To incl assessment for rod-cone dystrophy in individuals old enough to cooperate:; BCVA; Refractive error; Assessment of dark adaptation; Full-field ERG; Spectral-domain OCT Young children: assess visual acuity refractive error as a baseline.Children adolescents: assess for cataracts.

Source: GeneReviews — "Saul-Wilson Syndrome"

GeneReviews

Clinical Guidance

Participation in gymnastics and jumping on a trampoline should be avoided until atlanto-axial instability is excluded.

Source: GeneReviews — "Saul-Wilson Syndrome"

Clinical Trials

View trials for COG4-congenital disorder of glycosylation

Explore Trials

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 5. Recommended Surveillance for Individuals with Saul-Wilson Syndrome

System/Concern	Evaluation	Frequency
Constitutional	Measure HT, WT, HC using growth curves standardized for SWS.	At each visit
Development	Monitor developmental progress/ educational needs.	At each visit in young children
Musculoskeletal	To evaluate fine gross motor skills, mobility, activities of daily living	Annually Assess osteoarticular pain.
Hearing	Audiologic eval to determine type extent of hearing loss or success of intervention	Annually
Other	Obtain complete blood counts to assess neutrophil count.	Annually (or as needed during acute infections) BCVA = best-corrected Snellen visual acuity; DXA = dual-energy x-ray absorptiometry; HC = head circumference; HT = height; SWS = Saul-Wilson syndrome; WT = weight

Source: GeneReviews — "Saul-Wilson Syndrome"

Phenotype severity distribution: 13 always present features, 2 very common features, 11 common features.

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

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.

No clinical trials have been registered for COG4-congenital disorder of glycosylation.

202 publications have been identified in PubMed for COG4-congenital disorder of glycosylation. Kisho has analyzed 144 by research type. Research spans Review / Meta-Analysis (49%), Basic Science / Preclinical (39%), and Diagnostic / Biomarker (4%).

Research Type	Count	% of Total
Research summaries	70	49%
Laboratory research	56	39%
Testing and diagnosis research	6	4%
Disease patterns and progression	5	3%
Other research	2	1%
Patient case studies	2	1%
New treatment approaches	2	1%
Clinical study results	1	1%

Recent Publications

Sumya FT (2026). [PMID: 41718976](https://pubmed.ncbi.nlm.nih.gov/41718976/). *Subcell Biochem*. [Review / Meta-Analysis]
Ünsal Y (2026). [PMID: 39975416](https://pubmed.ncbi.nlm.nih.gov/39975416/). *J Clin Res Pediatr Endocrinol*. [Review / Meta-Analysis]
Tachida Y (2026). [PMID: 41917388](https://pubmed.ncbi.nlm.nih.gov/41917388/). *Adv Exp Med Biol*. [Review / Meta-Analysis]
Fu L (2026). [PMID: 41931467](https://pubmed.ncbi.nlm.nih.gov/41931467/). *J Am Soc Mass Spectrom*. [Review / Meta-Analysis]
Ding S (2026). [PMID: 41939861](https://pubmed.ncbi.nlm.nih.gov/41939861/). *Front Immunol*. [Review / Meta-Analysis]
Li P (2026). [PMID: 41316688](https://pubmed.ncbi.nlm.nih.gov/41316688/). *Allergy*. [Review / Meta-Analysis]
Yi L (2026). [PMID: 41264770](https://pubmed.ncbi.nlm.nih.gov/41264770/). *Protein Cell*. [Review / Meta-Analysis]
Micale L (2026). [PMID: 42202558](https://pubmed.ncbi.nlm.nih.gov/42202558/). *Mol Genet Metab*. [Basic Science / Preclinical]
Weger M (2026). [PMID: 41644694](https://pubmed.ncbi.nlm.nih.gov/41644694/). *Nat Metab*. [Diagnostic / Biomarker]
Johannes L (2026). [PMID: 41173705](https://pubmed.ncbi.nlm.nih.gov/41173705/). *Trends Cell Biol*. [Review / Meta-Analysis]

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613489

Orphanet

European rare disease database

Orphanet:263501

GARD

Genetic and Rare Diseases Info Center

GARD:12412

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about COG4-congenital disorder of glycosylation

COG4-CDG is a very rare genetic condition that affects the way glycoproteins are formed in the body. It is classified under the congenital disorders of glycosylation (CDG) and has been reported in a single patient so far. People with this condition exhibit a range of symptoms that affect their neurological and physical functions. Because only one case has been described in medical literature, our understanding of the full spectrum of this condition remains limited.

The reported symptoms in the single known case include seizures, dysmorphic features (unusual physical traits), axial hypotonia (reduced muscle tone in the trunk), slight peripheral hypertonia (increased muscle tone in the arms and legs), and hyperreflexia (overactive reflexes).

COG4-CDG is linked to changes in the COG4 gene, which is involved in the glycosylation process, the mechanism by which sugars are attached to proteins. This genetic change underlies the development of the condition. Associated genes include COG4.

Kisho

COG4-congenital disorder of glycosylation

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Silver-Russell syndrome

Treatment

Management Guidelines

Clinical Guidance

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

COG4-congenital disorder of glycosylation

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Silver-Russell syndrome

Treatment

Management Guidelines

Clinical Guidance

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is COG4-congenital disorder of glycosylation?

What are the symptoms of COG4-congenital disorder of glycosylation?

What causes COG4-congenital disorder of glycosylation?

How is COG4-congenital disorder of glycosylation inherited?

How rare is COG4-congenital disorder of glycosylation?

How is COG4-congenital disorder of glycosylation diagnosed?

Are there treatments for COG4-congenital disorder of glycosylation?

What complications can arise from COG4-congenital disorder of glycosylation?

How does COG4-congenital disorder of glycosylation affect daily life?

What is the prognosis for someone with COG4-congenital disorder of glycosylation?

Are there any specialists recommended for managing COG4-congenital disorder of glycosylation?