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PRO
MCID: PK3004
MIFTS: 38

Pik3ca-Related Overgrowth Spectrum (PRO)

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

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MalaCards integrated aliases for Pik3ca-Related Overgrowth Spectrum:

Name: Pik3ca-Related Overgrowth Spectrum 24 19 75
Pik3ca Related Overgrowth Spectrum 28 5 16
Pik3ca-Associated Segmental Overgrowth 19
Pros 24
Pro 75

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Mental diseases
See all MalaCards categories (disease lists)


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Summaries for Pik3ca-Related Overgrowth Spectrum

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MalaCards based summary: Pik3ca-Related Overgrowth Spectrum, also known as pik3ca related overgrowth spectrum, is related to obesity, early-onset, with adrenal insufficiency and red hair and facial infiltrating lipomatosis. An important gene associated with Pik3ca-Related Overgrowth Spectrum 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 brain, skin and prostate.

Wikipedia: 75 PIK3CA-related overgrowth spectrum (PROS) is an umbrella term for rare syndromes characterized by... more...

GeneReviews: NBK153722
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Related Diseases for Pik3ca-Related Overgrowth Spectrum

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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 Spectrum via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 2318)
# Related Disease Score Top Affiliating Genes
1 obesity, early-onset, with adrenal insufficiency and red hair 11.5
2 facial infiltrating lipomatosis 11.4
3 bone giant cell tumor 11.1
4 b-lymphoblastic leukemia/lymphoma 11.0
5 acute monoblastic leukemia 11.0
6 lipoid congenital adrenal hyperplasia 10.9
7 overgrowth syndrome 10.9
8 tuftsin deficiency 10.9
9 ectodermal dysplasia and immunodeficiency 2 10.9
10 lambda 5 deficiency 10.9
11 factor v leiden thrombophilia 10.9
12 acute monoblastic/monocytic leukemia 10.9
13 pik3ca-related overgrowth syndrome 10.9
14 megalencephaly 10.7
15 capillary malformations, congenital 10.6
16 megalencephaly-capillary malformation-polymicrogyria syndrome 10.6
17 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 10.6
18 scoliosis 10.6
19 congestive heart failure 10.6
20 helix syndrome 10.5
21 lymphangioma 10.5
22 coloboma of optic nerve 10.5
23 lipomatosis, multiple 10.5
24 lipomatosis 10.5
25 glioblastoma 10.5
26 thyrotropin-releasing hormone deficiency 10.5
27 macrodactyly 10.4
28 neuroblastoma 10.4
29 b-cell lymphoma 10.4
30 leukemia, acute lymphoblastic 10.4
31 chronic bilirubin encephalopathy 10.4
32 fetal anticonvulsant syndrome 10.4
33 macular degeneration, age-related, 1 10.4
34 pulmonary hypertension 10.4
35 hypolipoproteinemia 10.4
36 klippel-trenaunay-weber syndrome 10.4
37 proteus syndrome 10.4
38 hemihyperplasia, isolated 10.4
39 polymicrogyria 10.4
40 hemihyperplasia-multiple lipomatosis syndrome 10.4
41 48,xyyy 10.4
42 hypercholesterolemia, familial, 1 10.4
43 iron metabolism disease 10.4
44 systemic lupus erythematosus 10.4
45 thalassemia 10.4
46 lupus erythematosus 10.3
47 pulmonary hypertension, primary, 1 10.3
48 wilms tumor 1 10.3
49 wilms tumor 5 10.3
50 osteogenic sarcoma 10.3

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



Diseases related to Pik3ca-Related Overgrowth Spectrum
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Symptoms & Phenotypes for Pik3ca-Related Overgrowth Spectrum

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Drugs & Therapeutics for Pik3ca-Related Overgrowth Spectrum

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

(show top 50) (show all 64)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Teriflunomide Approved Phase 4 108605-62-5, 163451-81-8 54677977 54684141
2
Ocrelizumab Approved, Investigational Phase 4 637334-45-3
3
Norepinephrine Approved Phase 4 51-41-2 439260
4
Octreotide Approved, Investigational Phase 4 83150-76-9 383414 6400441
5
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
19
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
20
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
21
Tacrolimus Approved, Investigational Phase 3 104987-11-3 6473866 445643
22
Methyltestosterone Approved Phase 2, Phase 3 58-18-4 6010
23
Testosterone undecanoate Approved, Investigational Phase 2, Phase 3 5949-44-0 21873174 65157
24
Testosterone enanthate Approved Phase 2, Phase 3 315-37-7 9416
25
Testosterone Approved, Investigational Phase 2, Phase 3 58-22-0 5408 6013
26
Mycophenolic acid Approved, Investigational Phase 3 24280-93-1 446541
27
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
36
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
37
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
38
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
39
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
49
Pregabalin Approved, Investigational 148553-50-8 5486971
50
Interferon beta-1b Approved 145155-23-3

Interventional clinical trials:

(show all 47)
# 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 Health-related Quality of Life, Symptom Severity, and Pain Among Patients Treated With Alpelisib for PIK3CA-related Overgrowth Spectrum: A Mixed-methods Observational Study Recruiting NCT05294289
33 The Phenotype and Etiology of Proteus Syndrome Recruiting NCT00001403
34 Prospective Evaluation of Patient Reported Outcomes and Satisfaction With Education in Breast Cancer Patients (PROS) Recruiting NCT03333122
35 SIMPRO Research Center: Integration and Implementation of PROs for Symptom Management in Oncology Practice Recruiting NCT03850912
36 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
37 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®)
38 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
39 Development and Validation of Pediatric Narcolepsy Patient Reported Outcomes Scale (PN-PROS) Recruiting NCT05373979
40 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
41 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
42 Pros and Cons of Telemedicine in Diagnosis and Management Enrolling by invitation NCT04752553
43 Health IT Generated PROs to Improve Outcomes in Cirrhosis Enrolling by invitation NCT03564626
44 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
45 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
46 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
47 HIV + Service Delivery and Telemedicine Through Effective PROs (+STEP) Withdrawn NCT04489667

Search NIH Clinical Center for Pik3ca-Related Overgrowth Spectrum

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Genetic Tests for Pik3ca-Related Overgrowth Spectrum

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Genetic tests related to Pik3ca-Related Overgrowth Spectrum:

# Genetic test Affiliating Genes
1 Pik3ca Related Overgrowth Spectrum 28
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Anatomical Context for Pik3ca-Related Overgrowth Spectrum

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Organs/tissues related to Pik3ca-Related Overgrowth Spectrum:

MalaCards : Brain, Skin, Prostate, Breast, Kidney, Lung, Lymph Node
Sources

Publications for Pik3ca-Related Overgrowth Spectrum

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Articles related to Pik3ca-Related Overgrowth Spectrum:

(show top 50) (show all 14222)
# Title Authors PMID Year
1
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing. 62 24 5
28151489 2017
2
Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation. 62 24 5
27191687 2016
3
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. 24 5
27631024 2016
4
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. 24 5
25599672 2015
5
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 24 5
22729224 2012
6
Functional analysis of PIK3CA gene mutations in human colorectal cancer. 24 5
15930273 2005
7
Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway. 62 5
34170046 2022
8
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement. 62 24
34240408 2022
9
Correlation of PIK3CA mutation with programmed death ligand-1 (PD-L1) expression and their clinicopathological significance in colorectal cancer. 5
34733958 2021
10
A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations. 62 24
34238334 2021
11
Recurrent Neoantigens in Colorectal Cancer as Potential Immunotherapy Targets. 5
32733937 2020
12
Thrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndrome. 62 24
31490637 2019
13
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum. 62 24
30270358 2019
14
Alpelisib Plus Fulvestrant in PIK3CA-Altered and PIK3CA-Wild-Type Estrogen Receptor-Positive Advanced Breast Cancer: A Phase 1b Clinical Trial. 5
30543347 2019
15
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development. 5
28425981 2017
16
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 5
28191889 2017
17
Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum. 62 24
27307077 2017
18
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. 62 24
25557259 2015
19
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. 62 24
24782230 2014
20
A unique spectrum of somatic PIK3CA (p110alpha) mutations within primary endometrial carcinomas. 5
21266528 2011
21
Multiple oncogenic mutations and clonal relationship in spatially distinct benign human epidermal tumors. 5
21078999 2010
22
New and Emerging Targeted Therapies for Vascular Malformations. 24
32557381 2020
23
Theranostic Advances in Vascular Malformations. 24
32200879 2020
24
Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA. 24
31729162 2020
25
Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations. 24
31536475 2019
26
Vascular Anomalies: Diagnosis of Complicated Anomalies and New Medical Treatment Options. 24
31030813 2019
27
Efficacy of systemic sirolimus in the treatment of generalized lymphatic anomaly and Gorham-Stout disease. 24
30672136 2019
28
Rapamycin and treatment of venous malformations. 24
30855337 2019
29
The regulation of TORC1 pathway by the yeast chaperones Hsp31 is mediated by SFP1 and affects proteasomal activity. 24
30578832 2019
30
Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly. 24
30591517 2019
31
Sirolimus is efficacious in treatment for extensive and/or complex slow-flow vascular malformations: a monocentric prospective phase II study. 24
30373605 2018
32
Vascular Anomalies (Part I): Classification and Diagnostics of Vascular Anomalies. 24
29874693 2018
33
Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders. 24
28737257 2018
34
Somatic PIK3CA mutations are present in multiple tissues of facial infiltrating lipomatosis. 24
28665924 2017
35
Fibroadipose vascular anomaly treated with sirolimus: Successful outcome in two patients. 24
29144050 2017
36
Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase. 24
28566443 2017
37
Childhood tumours with a high probability of being part of a tumour predisposition syndrome; reason for referral for genetic consultation. 24
28544908 2017
38
Efficacy and Safety of Sirolimus in the Treatment of Complicated Vascular Anomalies. 24
26783326 2016
39
Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies. 24
26055853 2015
40
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. 24
25722288 2015
41
Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA. 24
25681199 2015
42
PIK3CA mutations in advanced cancers: characteristics and outcomes. 24
23248156 2012
43
[Macrocephaly-capillary malformation. A neonatal case]. 24
22884750 2012
44
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. 24
22729223 2012
45
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 24
22658544 2012
46
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. 24
22729222 2012
47
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. 24
22228622 2012
48
Comments on the diagnosis and management of CLOVES syndrome. 24
21504461 2011
49
Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria. 24
21077203 2010
50
Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly. 24
20533527 2010
Sources

Variations for Pik3ca-Related Overgrowth Spectrum

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ClinVar genetic disease variations for Pik3ca-Related Overgrowth Spectrum:

5 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIK3CA NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr) SNV Pathogenic
 39704 rs397514565 GRCh37: 3:178922364-178922364
GRCh38: 3:179204576-179204576
2 PIK3CA NM_006218.4(PIK3CA):c.2727C>A (p.Phe909Leu) SNV Pathogenic
 995381 rs1432181034 GRCh37: 3:178947852-178947852
GRCh38: 3:179230064-179230064
3 PIK3CA NM_006218.4(PIK3CA):c.271G>A (p.Asp91Asn) SNV Pathogenic
 995383 rs1724341846 GRCh37: 3:178916884-178916884
GRCh38: 3:179199096-179199096
4 PIK3CA NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile) SNV Pathogenic
 217292 rs121913283 GRCh37: 3:178952074-178952074
GRCh38: 3:179234286-179234286
5 PIK3CA NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln) SNV Pathogenic
 376049 rs121913287 GRCh37: 3:178916876-178916876
GRCh38: 3:179199088-179199088
6 PIK3CA NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp) SNV Pathogenic
 217293 rs121913275 GRCh37: 3:178936093-178936093
GRCh38: 3:179218305-179218305
7 PIK3CA NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) SNV Pathogenic
 13653 rs121913279 GRCh37: 3:178952085-178952085
GRCh38: 3:179234297-179234297
8 PIK3CA NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) SNV Pathogenic
 13655 rs104886003 GRCh37: 3:178936091-178936091
GRCh38: 3:179218303-179218303
9 PIK3CA NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) SNV Pathogenic
 179173 rs121913283 GRCh37: 3:178952074-178952074
GRCh38: 3:179234286-179234286
10 PIK3CA NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) SNV Pathogenic
 31945 rs121913272 GRCh37: 3:178927980-178927980
GRCh38: 3:179210192-179210192
11 PIK3CA NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) SNV Pathogenic
 13652 rs121913279 GRCh37: 3:178952085-178952085
GRCh38: 3:179234297-179234297
12 PIK3CA NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del) MICROSAT Pathogenic
 995382 rs1724343994 GRCh37: 3:178916938-178916940
GRCh38: 3:179199150-179199152
13 PIK3CA NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) SNV Likely Pathogenic
 13657 rs121913286 GRCh37: 3:178936094-178936094
GRCh38: 3:179218306-179218306
14 PIK3CA NM_006218.4(PIK3CA):c.311C>T (p.Pro104Leu) SNV Likely Pathogenic
 217291 rs863225060 GRCh37: 3:178916924-178916924
GRCh38: 3:179199136-179199136
15 PIK3CA NM_006218.4(PIK3CA):c.407dup (p.Gln137fs) DUP Likely Pathogenic
 587630 rs1560137609 GRCh37: 3:178917531-178917532
GRCh38: 3:179199743-179199744
16 PIK3CA NM_006218.4(PIK3CA):c.277C>T (p.Arg93Trp) SNV Likely Pathogenic
 1198826 GRCh37: 3:178916890-178916890
GRCh38: 3:179199102-179199102
Sources

Expression for Pik3ca-Related Overgrowth Spectrum

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

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GO Terms for Pik3ca-Related Overgrowth Spectrum

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Sources for Pik3ca-Related Overgrowth Spectrum

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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