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Any overgrowth syndrome resulting from pathogenic gain-of-function variants in the PIK3R2 gene. The variants can be germline or somatic
Biomarker and diagnostic research for PIK3R2-related overgrowth spectrum has been reported in the published literature.
No clinical trials have been registered for PIK3R2-related overgrowth spectrum.
152 publications have been identified in PubMed for PIK3R2-related overgrowth spectrum. Research spans Review / Meta-Analysis (38%), Basic Science / Preclinical (28%), and Case Report / Case Series (13%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 57 | 38% |
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 9:01 PM UTC
Common questions about PIK3R2-related overgrowth spectrum
Laboratory research
42 |
28% |
Patient case studies | 20 | 13% |
Disease patterns and progression | 16 | 11% |
Clinical study results | 7 | 5% |
Testing and diagnosis research | 5 | 3% |
New treatment approaches | 5 | 3% |
Tibarewal P (2026). [PMID: 41215730](https://pubmed.ncbi.nlm.nih.gov/41215730/). *Disease models & mechanisms*. [Basic Science / Preclinical]
Morin G (2026). [PMID: 41272322](https://pubmed.ncbi.nlm.nih.gov/41272322/). *EMBO molecular medicine*. [Epidemiology / Natural History]
Donato S (2026). [PMID: 41912294](https://pubmed.ncbi.nlm.nih.gov/41912294/). *Vitam Horm*. [Review / Meta-Analysis]
Morin G (2026). [PMID: 41173190](https://pubmed.ncbi.nlm.nih.gov/41173190/). *Kidney international*. [Review / Meta-Analysis]
Miremberg H (2026). [PMID: 41353713](https://pubmed.ncbi.nlm.nih.gov/41353713/). *Prenatal diagnosis*. [Epidemiology / Natural History]
Singh P (2026). [PMID: 41770539](https://pubmed.ncbi.nlm.nih.gov/41770539/). *JAMA*. [Review / Meta-Analysis]
Matoso A (2026). [PMID: 41368924](https://pubmed.ncbi.nlm.nih.gov/41368924/). *The American journal of surgical pathology*. [Case Report / Case Series]
Ohshima H (2026). [PMID: 41714048](https://pubmed.ncbi.nlm.nih.gov/41714048/). *Journal of oral biosciences*. [Review / Meta-Analysis]
Brunsdon H (2026). [PMID: 41573906](https://pubmed.ncbi.nlm.nih.gov/41573906/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Bakouh N (2025). [PMID: 39106285](https://pubmed.ncbi.nlm.nih.gov/39106285/). *Brain*. [Basic Science / Preclinical]
AI-curated news mentioning PIK3R2-related overgrowth spectrum
Updated Feb 5, 2026
A recent case report highlights the genetic diagnosis of macrotia in patients with PIK3CA-Related Overgrowth Spectrum (PROS) and discusses the long-term outcomes of otoplasty. This study contributes to the understanding of genetic factors in PROS and the effectiveness of surgical interventions.