PIK3R1-related immunodeficiency and SHORT syndrome
MONDO:1060136Mondo
Findings
No curated finding names PIK3R1-related immunodeficiency and SHORT syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A group of disorders caused by a variation in PIK3R1 gene that produces a structurally altered but present p85α protein, disrupting PI3K signaling and leading to features such as immune deficiency, autoimmunity, short stature, and distinct facial and skeletal features.
Definition from the Mondo Disease Ontology (MONDO:1060136), read 2026-09-29. CC BY 4.0.
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
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
- Narrower terms (2)