autosomal recessive agammaglobulinemia 1
MONDO:0020729Mondo
Findings
No curated finding names autosomal recessive agammaglobulinemia 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
16 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 immunoglobulin concentrationHPOHP:0004313
- 7 of 7 reported patients
- Decreased total B cell countHPOHP:0010976
- 7 of 7 reported patients
- PanhypogammaglobulinemiaHPOHP:0003139
- 7 of 7 reported patients
- Recurrent pneumoniaHPOHP:0006532
- 10 of 19 reported patients
- Recurrent enteroviral infectionsHPOHP:0002743
- 9 of 26 reported patients
- Decreased total neutrophil countHPOHP:0001875
- 6 of 19 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 2 of 7 reported patients
- Chronic diarrheaHPOHP:0002028
- 4 of 19 reported patients
- Failure to thriveHPOHP:0001508
- 4 of 19 reported patients
- BronchiectasisHPOHP:0002110
- 3 of 19 reported patients
- ConjunctivitisHPOHP:0000509
- 3 of 19 reported patients
- Recurrent sinusitisHPOHP:0011108
- 3 of 19 reported patients
Show the remaining 4
- AgammaglobulinemiaHPOHP:0004432
- 1 of 7 reported patients
- Rectal abscessHPOHP:0005224
- 1 of 7 reported patients
- Recurrent bacterial infectionsHPOHP:0002718
- Recurrent respiratory infectionsHPOHP:0002205
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.
- HGNC:5541HGNC:5541
- Definitive · ClinGen · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: autosomal recessive agammaglobulinemia 1
- Also called
- AGM1