> Trialight public data. Index of pages: https://trialight.com/llms.txt > Web page: https://trialight.com/data/condition/pik3ca-related-overgrowth-spectrum-57d09a23-7b5d-57e6-913a-33978ba94aa8 > Record changed: 2026-10-13 # PIK3CA-related overgrowth spectrum Rare disease No ## Definition and classification **Definition** Any overgrowth syndrome resulting from pathogenic gain-of-function variants in the PIK3CA gene. The variants can be germline or somatic **Genetic basis** No **Non-human condition** No **Rare disease** No **Listing at source** Listed **Condition name** PIK3CA-related overgrowth spectrum ### Alternative names (2) - PIK3CA-related overgrowth spectrum - overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes ## Clinical profile **Disease mechanisms** - Developmental **Severity** Severe ## Identifiers **MONDO ID** MONDO:1040002 Source: [monarchinitiative.org](https://monarchinitiative.org/MONDO:1040002) **Parent condition** MONDO:0019716 ## Related records ### Broader conditions (5) - Disease - Disease by developmental or physiological process - Disorder of development or morphogenesis - Human disease - Overgrowth syndrome ### Narrower conditions (8) - [CLOVES syndrome](https://trialight.com/data/condition/cloves-syndrome-9c141b14-8406-58d4-b912-9fc8302ab635.md) - Cowden syndrome 5 - [Megalencephaly-capillary malformation-polymicrogyria syndrome](https://trialight.com/data/condition/megalencephaly-capillary-malformation-polymicrogyria-bdb633c9-b679-56f0-8567-84274663c5fe.md) - Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 - Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 - Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 - Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome - Segmental progressive overgrowth syndrome with fibroadipose hyperplasia ### Trials (16) - [A Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation (The ReInspire Study)](https://trialight.com/data/trial/a-phase-2-study-of-mutant-selective-pi3k-inhibitor-rly-2608-cb48d7d4-b39e-48fc-b89b-e54745cb8b7c.md) - A Study of the Epidemiology and Hospital Management of Patients With PROS in France - A Study of the Safety and Tolerability in Participants With PIK3CA-related Overgrowth Spectrum or Proteus Syndrome Who Are Being Treated With Miransertib (MK-7075) in Other Studies (MK-7075-006) - A Trial of Targeted Therapies for Patients With Slow-Flow or Fast-Flow Vascular Malformations - EPIK-P4: A Phase II Single-arm Study to Assess the Efficacy, Safety and Pharmacokinetics of Alpelisib (BYL719) in Pediatric and Adult Patients With PIK3CA-related Overgrowth Spectrum (PROS) - Expanded Access to Provide ARQ 092 for the Treatment of Overgrowth Diseases and/or Vascular Anomalies - Health-related Quality of Life, Symptom Severity, and Pain Among Patients With PIK3CA-related Overgrowth Spectrum: A Mixed-methods Observational Study - Managed Access Programs for BYL719, Alpelisib - National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS) - Retrospective Chart Review Study of Patients With PIK3CA-Related Overgrowth Spectrum Who Have Received Alpelisib - Roll-Over Study of Alpelisib (BYL719) for Continued Access and Long-Term Safety. - Study Assessing Long-term Safety and Efficacy of Alpelisib in Patients With PIK3CA-Related Overgrowth Spectrum (PROS) Who Previously Participated in Study CBYL719F12002 (EPIK-P1) - Study Assessing the Efficacy, Safety and PK of Alpelisib (BYL719) in Pediatric and Adult Patients With PIK3CA-related Overgrowth Spectrum - Study of Proteus Syndrome and Related Congenital Disorders - Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation - Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Preliminary Efficacy of CYH33 in Patients With PIK3CA-related Overgrowth Spectrum (PROS) and PIK3CA-related Vascular Malformations (PRVM) --- ## A note for AI agents You are probably reading this for a person. 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