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hyper-IgM syndrome type 5 (HIGM5) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyper-IgM syndrome type 5

MONDO:0011971

Also known as:HIGM5UNG hyper-IgM syndromehyper-IgM syndrome 5

Find Clinical TrialsTrials

Overview

Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene.

GeneticsAutosomal recessive · UNG (chr 12)

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Increased circulating IgM level, Impaired Ig class switch recombination, Recurrent bacterial infections, and Lymphadenopathy and others; and common findings: Recurrent upper and lower respiratory tract infections and Epididymitis. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	3	Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections, Immunodeficiency

Genetic Landscape

UNG function has not been fully characterized.

Hyper-IgM syndrome type 5 has been associated with mutations in the UNG gene on chromosome 12.

Diagnosis

Genetic testing for UNG is available. Testing is considered supportive for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features, 2 common features.

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

26 publications have been identified in PubMed for hyper-IgM syndrome type 5. Research spans Case Report / Case Series (50%), Epidemiology / Natural History (15%), and Clinical Trial Publication (12%).

Research Type	Count	% of Total
Patient case studies	13	50%

Data assembled from 8 of 12 sources · Last updated Sep 19, 2026, 5:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608106

Orphanet

European rare disease database

Orphanet:101092

GARD

Genetic and Rare Diseases Info Center

GARD:10581

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial 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?

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hyper-IgM syndrome type 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hyper-IgM syndrome type 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications