MCID: PK3005

Pik3ca-Related Overgrowth Syndrome (PROS)

Categories: Fetal diseases, Mental diseases, Rare diseases
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Aliases & Classifications for Pik3ca-Related Overgrowth Syndrome

MalaCards integrated aliases for Pik3ca-Related Overgrowth Syndrome:

Name: Pik3ca-Related Overgrowth Syndrome 58
Pik3ca Related Overgrowth Syndrome 5
Pros 58


Orphanet: 58  
Developmental anomalies during embryogenesis

External Ids:

Orphanet 58 ORPHA530313

Summaries for Pik3ca-Related Overgrowth Syndrome

MalaCards based summary: Pik3ca-Related Overgrowth Syndrome, also known as pik3ca related overgrowth syndrome, is related to segmental progressive overgrowth syndrome with fibroadipose hyperplasia and overgrowth syndrome. An important gene associated with Pik3ca-Related Overgrowth Syndrome is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha). The drugs Teriflunomide and Ocrelizumab have been mentioned in the context of this disorder. Affiliated tissues include prostate, breast and kidney.

Related Diseases for Pik3ca-Related Overgrowth Syndrome

Diseases in the Overgrowth Syndrome family:

Eed-Related Overgrowth Ezh2-Related Overgrowth
Pik3ca-Related Overgrowth Spectrum Pik3ca-Related Overgrowth Syndrome

Diseases related to Pik3ca-Related Overgrowth Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 647)
# Related Disease Score Top Affiliating Genes
1 segmental progressive overgrowth syndrome with fibroadipose hyperplasia 11.3
2 overgrowth syndrome 10.5
3 pik3ca-related overgrowth spectrum 10.4
4 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 10.3
5 hemihyperplasia, isolated 10.2
6 lipomatosis 10.2
7 covid-19 10.2
8 vitamin k deficiency bleeding 10.1
9 autoimmune disease 10.1
10 osteoporosis 10.1
11 thrombophilia due to thrombin defect 10.1
12 bone mineral density quantitative trait locus 8 10.1
13 bone mineral density quantitative trait locus 15 10.1
14 type 1 diabetes mellitus 10.1
15 inflammatory bowel disease 10.1
16 adult respiratory distress syndrome 10.1
17 enterocele 10.1
18 thyroid carcinoma 10.1
19 klippel-trenaunay-weber syndrome 10.1
20 lipomatosis, multiple 10.1
21 capillary malformations, congenital 10.1
22 proteus syndrome 10.1
23 megalencephaly-capillary malformation-polymicrogyria syndrome 10.1
24 angiosarcoma 10.1
25 scoliosis 10.1
26 lymphangioma 10.1
27 cystic lymphangioma 10.1
28 urinary tract obstruction 10.1
29 congestive heart failure 10.1
30 facial infiltrating lipomatosis 10.1
31 hemimegalencephaly 10.1
32 chronic pain 10.1
33 megalencephaly 10.1
34 hemihyperplasia-multiple lipomatosis syndrome 10.1
35 rare lymphatic malformation 10.1
36 gastroesophageal reflux 10.1
37 prostatic hyperplasia, benign 10.1
38 non-alcoholic fatty liver disease 10.1
39 hepatitis c 10.1
40 thrombophilia 10.1
41 dermatitis 10.1
42 severe acute respiratory syndrome 10.1
43 liver disease 10.1
44 end stage renal disease 10.1
45 eating disorder 10.1
46 ovarian cancer 10.0
47 psoriasis 1 10.0
48 rheumatoid arthritis 10.0
49 psoriasis 2 10.0
50 psoriasis 7 10.0

Graphical network of the top 20 diseases related to Pik3ca-Related Overgrowth Syndrome:

Diseases related to Pik3ca-Related Overgrowth Syndrome

Symptoms & Phenotypes for Pik3ca-Related Overgrowth Syndrome

Drugs & Therapeutics for Pik3ca-Related Overgrowth Syndrome

Drugs for Pik3ca-Related Overgrowth Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 63)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Teriflunomide Approved Phase 4 108605-62-5, 163451-81-8 54677977 54684141
Ocrelizumab Approved, Investigational Phase 4 637334-45-3
Norepinephrine Approved Phase 4 51-41-2 439260
Octreotide Approved, Investigational Phase 4 83150-76-9 383414 6400441
Midodrine Approved Phase 4 133163-28-7, 42794-76-3 4195
6 Analgesics Phase 4
7 Antirheumatic Agents Phase 4
8 Anti-Inflammatory Agents, Non-Steroidal Phase 4
9 Analgesics, Non-Narcotic Phase 4
10 Anti-Inflammatory Agents Phase 4
11 Antineoplastic Agents, Hormonal Phase 4
12 Neurotransmitter Agents Phase 4
13 Adrenergic alpha-Agonists Phase 4
14 Adrenergic Agonists Phase 4
15 Adrenergic Agents Phase 4
16 Vasoconstrictor Agents Phase 4
17 Gastrointestinal Agents Phase 4
18 Sympathomimetics Phase 4
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
Tacrolimus Approved, Investigational Phase 3 104987-11-3 6473866 445643
Methyltestosterone Approved Phase 2, Phase 3 58-18-4 6010
Testosterone undecanoate Approved, Investigational Phase 2, Phase 3 5949-44-0 21873174 65157
Testosterone enanthate Approved Phase 2, Phase 3 315-37-7 9416
Testosterone Approved, Investigational Phase 2, Phase 3 58-22-0 5408 6013
Mycophenolic acid Approved, Investigational Phase 3 24280-93-1 446541
Acyline Investigational Phase 2, Phase 3 170157-13-8 44208979
28 Immunosuppressive Agents Phase 3
29 Immunologic Factors Phase 3
30 Calcineurin Inhibitors Phase 3
31 Anabolic Agents Phase 2, Phase 3
32 Hormones Phase 2, Phase 3
33 Hormone Antagonists Phase 2, Phase 3
34 Androgens Phase 2, Phase 3
35 Testosterone 17 beta-cypionate Phase 2, Phase 3
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
Pravastatin Approved Phase 2 81093-37-0 54687
40 Anti-Bacterial Agents Phase 2
41 Anti-Infective Agents Phase 2
42 Antifungal Agents Phase 2
43 Antibiotics, Antitubercular Phase 2
44 Antimetabolites Phase 2
45 Hypolipidemic Agents Phase 2
46 Anticholesteremic Agents Phase 2
47 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
48 Lipid Regulating Agents Phase 2
Pregabalin Approved, Investigational 148553-50-8 5486971
Interferon beta-1b Approved 145155-23-3

Interventional clinical trials:

(show all 45)
# Name Status NCT ID Phase Drugs
1 A Prospective, Single-Arm, Clinical-Setting Study to Describe Efficacy, Tolerability and Convenience of Teriflunomide Treatment Using Patient Reported Outcomes (PROs) in Relapsing Multiple Sclerosis (RMS) Patients Completed NCT01895335 Phase 4 Teriflunomide
2 An Open-Label, Single-Arm Phase IV Study To Assess Ocrelizumab Efficacy, Safety, And Impact On Patient Reported Outcomes (PROS) In Patients With Active Relapsing Multiple Sclerosis Completed NCT03589105 Phase 4 Ocrelizumab 300 mg;Ocrelizumab 600 mg
3 Pros & Cons of Norepinephrine Infusion Versus Midodrine & Octreotide in Patients With Hepatorenal Syndrome Type 1 in Intensive Care Unit. Completed NCT03455322 Phase 4 norepinephrine versus midodrine & octreotide
4 Ph3, Open Label, Multi-Ctr, Pros, Rand Study -Efficacy and Safety, Conversion Prograf® Capsules BID to LCPTacro Tablets QD, for Prevent of Acute Allograft Rejection in Stable Kidney Transplant pt. Completed NCT00817206 Phase 3 LCP-Tacro;Prograf
5 Dose Response Effects of Exogenous Testosterone on the Prostate and Comparison With Effects on Body Composition (Short Title: PROS-2) Completed NCT01327495 Phase 2, Phase 3 Testosterone 1% gel 1.25 g;Testosterone 1% gel 2.5 g;Testosterone 1% gel 5.0 g;testosterone 1% gel 10 g;testosterone 1% gel 15 g;Acyline
6 Ph3,DB/DD,Multi-Ctr,Pros,Rand Study-Efficacy and Safety of LCP-Tacro™ Tablets, QD, Compared to Prograf® Capsules,BID, in Combination With Mycophenolate Mofetil for Acute Allograft Rejection in De Novo Kidney Transplant Completed NCT01187953 Phase 3 Prograf (tacrolimus);LCP-Tacro
7 Nonrandomized Open Label Pilot Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation Completed NCT02428296 Phase 2 Sirolimus
8 BrUOG-PROS-221 Neoadjuvant Weekly Ixabepilone for High Risk, Clinically Localized Prostate Cancer: A Phase II Study Completed NCT00828308 Phase 2 Ixabepilone
9 EPIK-P2: A Phase II Double-blind Study With an Upfront, 16-week Randomized, Placebo-controlled Period, to Assess the Efficacy, Safety and Pharmacokinetics of Alpelisib (BYL719) in Pediatric and Adult Patients With PIK3CA-related Overgrowth Spectrum (PROS) Recruiting NCT04589650 Phase 2 Alpelisib;Placebo
10 Improving Theempowerment in Patients With Severe Breast Fibrosis Radio-induced Treated by Pravastatin : Benefit of e-PROs (Electronic " Patient Reported Outcome ") on Breast-related Quality of Life Recruiting NCT04356209 Phase 2 Pravastatin
11 A Multicenter, Open-label, Phase 2, Extension Trial to Study the Long-term Safety in Participants With PROS or Proteus Syndrome Who Are Currently Being Treated With Miransertib in Other Studies Active, not recruiting NCT04980872 Phase 2 Miransertib
12 A Phase II Study to Evaluate the Long-term Safety and Efficacy of Alpelisib in Patients With PIK3CA-Related Overgrowth Spectrum (PROS) Who Previously Participated in Study CBYL719F12002 (EPIK-P1) Active, not recruiting NCT04980833 Phase 2 Alpelisib
13 A Phase 1/2 Study of ARQ 092 (Miransertib) in Subjects With PIK3CA-related Overgrowth Spectrum (PROS) and Proteus Syndrome (PS) (MOSAIC) Terminated NCT03094832 Phase 1, Phase 2 Miransertib
14 PROS Brief Smoking Cessation Counseling in Pediatric Practice to Reduce Secondhand Smoke Exposure of Young Children Completed NCT00135213 Phase 1
15 (COMEBACK): Biktarvy in PLWH But Not Retained in Care Coupled With a Strengths-based Case Management Approach to Assess Virologic Suppression Rates and Retention in Care, Along With Patient Reported Outcomes (PROS). Unknown status NCT04519970
16 Retrospective Chart Review Study of Patients With PIK3CA-Related Overgrowth Spectrum (PROS) Who Have Received Alpelisib as Part of a Compassionate Use Program (EPIK-P1) Completed NCT04285723
17 Home-based Assessment of Patient Reported Outcome (PROs) Measures in Sickle Cell Disease (SCD) Using A Smartphone App Platform: A Feasibility Study Completed NCT04678037
18 Pros and Cons of Botulinum Injection Treatment in Cerebral Palsy: A Qualitative Study Examining the Caregiver's Perspectives Completed NCT04256187
19 Patient-reported-outcomes(PROs) in Chronic Low Back Pain Patients With Accompanying Lower Limb Pain (Neuropathic Component) Treated With Pregabalin in Primary Care Settings Completed NCT02273908
20 US PROmyBETAapp2.0: Ascertaining Medication Usage and Patient-reported Outcomes (PROs) Via the myBETAapp™ in Patients With Multiple Sclerosis Treated With BETASERON® Using BETACONNECT™ Autoinjector Completed NCT04356339 Interferon-beta-1b (BETASERON, BAY 86-5046)
21 Assessing Behavioral, Functional, and Clinical Patient-Reported Outcomes (PROs) in Subjects Diagnosed With COVID-19 Completed NCT05042232
22 The Biosensor Study: Exploratory Study Evaluating the Use of Wearable Biosensors and Patient Reported Outcomes (PROs) to Assess Performance Status and Distress in Patients With Cancer Completed NCT02659358
23 Does Long-Term Natalizumab (NTZ) Therapy Normalize Brain Atrophy Rates and Quality of Life (QOL) in Relapsing Remitting Multiple Sclerosis (RRMS)? A Longitudinal Study Using Whole Brain, Neocortical and Subcortical Atrophy Rates and Patient Reported Outcomes (PROs). Completed NCT02588053
24 A Study of the Impact of Adalimumab on Patient-reported Outcomes (PROs) in Canadian Patients Suffering From Moderate-to-severe Ulcerative Colitis (UCanADA) Completed NCT02506179
25 A Prospective, International, Longitudinal, Observational Disease Registry of Patient-reported Outcomes (PROs) and the Association With Hemophilia A and Its Treatment in Patients With Moderate to Severe Hemophilia A Completed NCT02396862 Available Recombinant, and Human Factor VIII products incl. Kogenate FS (Recombinant Factor VIII, BAY14-2222)
26 The Impact of Disease Modifying Therapies (DMTs) and Associated Support Services on Patient Reported Experience Measures (PREMs) and Outcomes (PROs) in Relapsing Multiple Sclerosis (RMS) Patients Completed NCT01601119 Rebif
27 A Usability Study of Patient-Reported Outcomes (PRO)-Based Palliative and Hospice Care Practice: Integrating PROs and Decision Support Into an Electronic Record Completed NCT01024166
28 CVC Pros and Cons of Scheduled Triple-lumen Central Venous Catheter Exchange: A Prospective Controlled Randomized Study Completed NCT00250809
29 Providing Resources to Enhance Patients' Readiness to Make Decisions About Kidney Disease: Partnering to Break the News, Review All Options, Weigh Pros and Cons (PREPARE NOW) Completed NCT02428569
30 A Qualitative Study of Patient-Reported Outcomes (PRO)-Based Palliative and Hospice Care Practice: Integrating PROs and Decision Support Into an Electronic Record Completed NCT00878267
31 Prospective Epidemiological Study to Determine the Variation in the Quality of Life of Patients With Locally Advanced and Metastatic Prostate Cancer (PROS-PROSQoLI Study) Completed NCT02853409
32 Prospective Evaluation of Patient Reported Outcomes and Satisfaction With Education in Breast Cancer Patients (PROS) Recruiting NCT03333122
33 SIMPRO Research Center: Integration and Implementation of PROs for Symptom Management in Oncology Practice Recruiting NCT03850912
34 A Pilot Study to Define PROs for Establishing a Pathway for Post Radiation or Concurrent Chemo Radiation (RT/CRT) Patient Care for Oropharyngeal Cancer Recruiting NCT04874493
35 A Prospective Cohort Study of Patients With Actinic Keratosis (AK) in the Face or Scalp Treated With Tirbanibulin and Followed for 24 Weeks Post Treatment-initiation. Patient Reported Outcomes (PROs) and Clinical Profile of Patients Will be Gathered for Descriptive Analyses of Patient Outcomes Over the 24-week Study Observation Period Recruiting NCT05260073 Tirbanibulin (Klisyri®)
36 Cladribine Tablets: Observational Evaluation of Effectiveness and PROs in Suboptimally Controlled Patients Previously Taking Oral or Infusion DMDs for RMS (MASTER-2) Recruiting NCT03933202 Cladribine Tablets
37 Development and Validation of Pediatric Narcolepsy Patient Reported Outcomes Scale (PN-PROS) Recruiting NCT05373979
38 Cladribine Tablets: Observational Evaluation of Effectiveness and PROs in Suboptimally Controlled Patients Previously Taking Injectable DMDs for RMS (CLICK-MS) Active, not recruiting NCT03933215 Cladribine Tablets
39 Managed Access Program (MAP) Cohort Treatment Plan CBYL719F12001M to Provide Access to Alpelisib (BYL719) for Patients With PIK3CA-Related Overgrowth Spectrum (PROS) Available NCT04085653 alpelisib
40 Pros and Cons of Telemedicine in Diagnosis and Management Enrolling by invitation NCT04752553
41 Health IT Generated PROs to Improve Outcomes in Cirrhosis Enrolling by invitation NCT03564626
42 Evaluation Nationale Des Enfants et Adultes Avec Syndromes d'Hypercroissance Dysharmonieuse National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS) Not yet recruiting NCT05563831
43 Before and After Study, Evaluating the Efficiency of an Anticipated Personalization of the Management in Day Hospital Unit Based on a Collection of the PROs Via a Digital Tool Not yet recruiting NCT05552066
44 Expanded Access to Provide ARQ 092 for the Treatment of Overgrowth Diseases and/or Vascular Anomalies With Genetic Alterations of the PI3K/AKT Pathway No longer available NCT03317366 ARQ 092
45 HIV + Service Delivery and Telemedicine Through Effective PROs (+STEP) Withdrawn NCT04489667

Search NIH Clinical Center for Pik3ca-Related Overgrowth Syndrome

Genetic Tests for Pik3ca-Related Overgrowth Syndrome

Anatomical Context for Pik3ca-Related Overgrowth Syndrome

Organs/tissues related to Pik3ca-Related Overgrowth Syndrome:

MalaCards : Prostate, Breast, Kidney, Brain, Lung, Lymph Node, Heart

Publications for Pik3ca-Related Overgrowth Syndrome

Articles related to Pik3ca-Related Overgrowth Syndrome:

(show top 50) (show all 14134)
# Title Authors PMID Year
Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients. 62 5
30063105 2018
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. 5
27631024 2016
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 5
22729224 2012
Implementation of a Patient-Tailored Opioid Prescribing Guideline in Ventral Hernia Surgery. 62
36270120 2023
Multimodal phenotyping and correlates of pain following hematopoietic cell transplant in children with sickle cell disease. 62
36322607 2023
Osseointegrated prostheses for the rehabilitation of patients with transfemoral amputations: A prospective ten-year cohort study of patient-reported outcomes and complications. 62
36313974 2023
Patient-reported outcomes for the Intergroup Sentinel Mamma study (INSEMA): A randomised trial with persistent impact of axillary surgery on arm and breast symptoms in patients with early breast cancer. 62
36457648 2023
Building the Toolbox of Devices to Optimize a Practice in Submucosal Endoscopy. 62
36375879 2023
Nucleic acid adductomics - The next generation of adductomics towards assessing environmental health risks. 62
36195140 2023
Assessment and treatment of neurogenic dysphagia in stroke and Parkinson's disease. 62
36226719 2022
Qualitative Analysis of Patient-Physician Discussions Regarding Anticoagulation for Atrial Fibrillation. 62
36315125 2022
Intercropping maize with brachiaria can be a double-edged sword strategy. 62
36054418 2022
Relationship between advanced pharmacy practice experience grading schemes and pharmacy residency match rates. 62
36082956 2022
Current progress on innovative pest detection techniques for stored cereal grains and thereof powders. 62
35868281 2022
The design and development of an encounter tool to support shared decision making about preventing cardiovascular events. 62
36203943 2022
Feasibility of establishing a veterinary marker to total residue in edible tissues with non-radiolabeled study using high-resolution mass spectrometry. 62
35753190 2022
Use of Patient-Reported Outcomes for Assessing Diabetes Outcomes. 62
36244693 2022
A comprehensive review on reactive oxygen species (ROS) in advanced oxidation processes (AOPs). 62
36049639 2022
Halide Perovskite: A Promising Candidate for Next-Generation X-Ray Detectors. 62
36453564 2022
Investigating the trends in patient-reported outcomes pre-treatment and implications to efficacy analyses: A post-hoc analysis of a cancer clinical trial. 62
36387988 2022
Postgraduate education in radiation oncology during the COVID-19 pandemic - What did we learn? 62
36247369 2022
Microplastics: Occurrences, treatment methods, regulations and foreseen environmental impacts. 62
36058276 2022
Machine learning methods for pKa prediction of small molecules: Advances and challenges. 62
36167281 2022
The role of nutrition in canine idiopathic epilepsy management: Fact or fiction? 62
36341888 2022
[Audit & Feedback: how it works.] 62
36420849 2022
The Greek version of the Australian Pelvic Floor Questionnaire: Cross-cultural adaptation and validation amongst women with urinary incontinence. 62
36347115 2022
Advances in small molecule maintenance therapies for high-grade serous ovarian cancer. 62
36458890 2022
Management system of home transfusion in Japan: A nationwide survey in 2019. 62
36454538 2022
Sexting with benefits? Exploration of sexting behaviours through the lens of protection motivation theory. 62
36240694 2022
Artificial intelligence empowered digital health technologies in cancer survivorship care: A scoping review. 62
36176267 2022
Comparing the efficiency of six clearing methods in developing seeds of Arabidopsis thaliana. 62
36378346 2022
Direct and economy-wide energy rebound effects in China's transportation sector: a comparative analysis. 62
35871199 2022
Studying the ubiquitin code through biotin-based labelling methods. 62
35181195 2022
Towards Systematic Design Considerations for Visualizing Cross-View Data Relationships. 62
34357866 2022
Simulating Fractures With Bonded Discrete Element Method. 62
34437065 2022
Outpatient Shoulder Arthroplasty in the COVID-19 Era: 90-day Complications and Risk Factors. 62
36470518 2022
Does the timing of tenotomy during biceps tenodesis affect the incidence of Popeye deformity and clinical outcome? An analysis of short-term follow-up of two techniques. 62
36464205 2022
Clinical Outcomes After Arthroscopic Pancapsular Shift for the Treatment of Multidirectional Glenohumeral Instability at a Mean Follow-up of 9 Years. 62
36322393 2022
The Application of Minimal Clinically Important Differences in Palliative Research: Interpretation of Results of a Systematic Review. 62
36002121 2022
Factors associated with worsening sexual function during adjuvant endocrine therapy in a prospective clinic-based cohort of women with early-stage breast cancer. 62
36197536 2022
Validation and Meaningful Change Thresholds for an Objective Cough Frequency Measurement in Chronic Cough. 62
36348054 2022
Patient-reported outcomes in vaccines research: relevance for decision-making. 62
33606595 2022
Psychological impairments in individuals with history of ankle sprain: a systematic review. 62
33896345 2022
Posterior Horn Lateral Meniscal Oblique Radial Tear in Acute Anterior Cruciate Ligament Reconstruction Incidence and Outcomes After All-Inside Repair: Clinical and Second-Look Arthroscopic Evaluation. 62
36322384 2022
Opioid-sparing anesthesia and patient-reported outcomes after open gynecologic surgery: a historical cohort study. 62
36224506 2022
Rethinking the definition of chronic postsurgical pain: composites of patient-reported pain-related outcomes vs pain intensities alone. 62
35442934 2022
Patient-Reported Outcomes in Endoscopic Endonasal Skull Base Surgery. 62
36244689 2022
Analgesic use and favourable patient-reported outcome measures after paediatric surgery: an analysis of registry data. 62
36470745 2022
Multilevel Decompression Surgery for Degenerative Lumbar Spinal Canal Stenosis Is Similarly Effective With Single-level Decompression Surgery. 62
35917279 2022
Evaluating reporting of patient-reported outcomes in peptic ulcer disease: a meta-epidemiological study of randomized controlled trials. 62
36073013 2022

Variations for Pik3ca-Related Overgrowth Syndrome

ClinVar genetic disease variations for Pik3ca-Related Overgrowth Syndrome:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIK3CA NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys) SNV Pathogenic
376470 rs1057519925 GRCh37: 3:178928079-178928079
GRCh38: 3:179210291-179210291
2 PIK3CA NM_006218.4(PIK3CA):c.3012G>A (p.Met1004Ile) SNV Likely Pathogenic
1209066 GRCh37: 3:178951957-178951957
GRCh38: 3:179234169-179234169

Expression for Pik3ca-Related Overgrowth Syndrome

Search GEO for disease gene expression data for Pik3ca-Related Overgrowth Syndrome.

Pathways for Pik3ca-Related Overgrowth Syndrome

GO Terms for Pik3ca-Related Overgrowth Syndrome

Sources for Pik3ca-Related Overgrowth Syndrome

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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