agammaglobulinemia 7, autosomal recessive
Findings
No curated finding names agammaglobulinemia 7, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014083), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
6 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 total neutrophil countHPOHP:0001875
- 1 of 1 reported patient
- Erythema nodosumHPOHP:0012219
- 1 of 1 reported patient · Juvenile onset
- PanhypogammaglobulinemiaHPOHP:0003139
- 1 of 1 reported patient
- Recurrent infectionsHPOHP:0002719
- 1 of 1 reported patient
- Reduced total natural killer cell countHPOHP:0040218
- 1 of 1 reported patient
- Abnormal T cell morphologyHPOHP:0002843
- 0 of 1 reported patient
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.
- PIK3R1HGNC:8979
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2026
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · ClinGen · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: agammaglobulinemia 7, autosomal recessive
- Also called
- autosomal agammaglobulinemia caused by mutation in PIK3R1PIK3R1 autosomal agammaglobulinemia