PIK3CA-related overgrowth spectrum
Rare disease
No
- 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
- PIK3CA-related overgrowth spectrum
- overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
- Disease mechanisms
- Developmental
- Severity
- Severe
- MONDO ID
- 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
- Cowden syndrome 5
- Megalencephaly-capillary malformation-polymicrogyria syndrome
- 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)
- 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)