hyper-IgM syndrome type 5
MONDO:0011971Mondo
Findings
No curated finding names hyper-IgM syndrome type 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene.
Definition from the Mondo Disease Ontology (MONDO:0011971), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating IgA concentrationHPOHP:0002720
- 3 of 3 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 3 of 3 reported patients
- Impaired Ig class switch recombinationHPOHP:0002959
- 3 of 3 reported patients
- Increased circulating IgM concentrationHPOHP:0003496
- 3 of 3 reported patients
- LymphadenopathyHPOHP:0002716
- 3 of 3 reported patients
- Recurrent bacterial infectionsHPOHP:0002718
- 3 of 3 reported patients
- Epididymitis
Genes
1 gene
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.
- UNGHGNC:12572
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Moderate · ClinGen · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
7 names
Resolves to: hyper-IgM syndrome type 5
- Also called
- HIGM5hyper-IgM syndrome 5hyper-IgM syndrome caused by mutation in UNGhyper-IgM syndrome due to UNG deficiencyhyper-IgM syndrome due to uracil N-glycosylaseimmunodeficiency with hyper IgM, type 5UNG hyper-IgM syndrome