MCID: PK3004
MIFTS: 18

Pik3ca-Related Overgrowth Spectrum

Categories: Rare diseases

Aliases & Classifications for Pik3ca-Related Overgrowth Spectrum

MalaCards integrated aliases for Pik3ca-Related Overgrowth Spectrum:

Name: Pik3ca-Related Overgrowth Spectrum 53
Pik3ca Related Overgrowth Spectrum 29 6
Pik3ca-Associated Segmental Overgrowth 53

Classifications:



Summaries for Pik3ca-Related Overgrowth Spectrum

NIH Rare Diseases : 53 PIK3CA-related overgrowth spectrum (PROS) is a group of rare diseases associated with having parts of the body that grow too quickly (overgrowth). Specifically, people with these diseases have overgrowth of the brain and other parts of the body. PROS can be further classified into three specific syndromes:Fibroadipose hyperplasia CLOVES syndrome Megalencephaly-capillary malformation syndrome (MCAP syndrome) Signs and symptoms of the diseases can include having a larger than normal brain (megalencephaly), low muscle tone (hypotonia), seizures, intellectual disability, changes in the blood vessels (vascular system), and overgrowth of one smaller area of the body (focal overgrowth) or of larger areas of the body (segmental overgrowth). PROS is caused by changes (mutations or pathogenic variants) in the PIK3CA gene. These pathogenic variants are typically only present in some cells of the body, and the diseases are typically not passed down (inherited) from the affected individual’s parents. A diagnosis of PROS is based on observing signs and symptoms characteristic of the diseases. The diagnosis can be confirmed with genetic testing of the PIK3CA gene. Treatment for the diseases can include surgical interventions, special education, and speech and physical therapies.

MalaCards based summary : Pik3ca-Related Overgrowth Spectrum, also known as pik3ca related overgrowth spectrum, is related to klippel-trenaunay-weber syndrome and wilms tumor 5. An important gene associated with Pik3ca-Related Overgrowth Spectrum is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha). The drugs Miconazole and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include testes and brain.

Related Diseases for Pik3ca-Related Overgrowth Spectrum

Diseases in the Pik3ca-Related Overgrowth Spectrum family:

Ezh2-Related Overgrowth

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

# Related Disease Score Top Affiliating Genes
1 klippel-trenaunay-weber syndrome 11.5
2 wilms tumor 5 10.0
3 wilms tumor 6 10.0

Symptoms & Phenotypes for Pik3ca-Related Overgrowth Spectrum

Drugs & Therapeutics for Pik3ca-Related Overgrowth Spectrum

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
2
Everolimus Approved Phase 2 159351-69-6 6442177
3
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
4 Anti-Bacterial Agents Phase 2
5 Antibiotics, Antitubercular Phase 2
6 Immunosuppressive Agents Phase 2
7 Anti-Infective Agents Phase 2
8 Antifungal Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation Completed NCT02428296 Phase 2 Sirolimus
2 Study of ARQ 092 in Patients With Overgrowth Diseases and/or Vascular Anomalies Recruiting NCT03094832 Phase 1, Phase 2 ARQ 092
3 Trial of Taselisib in Overgrowth Recruiting NCT03290092 Phase 1, Phase 2 Taselisib (GDC0032);Taselisib (GDC0032)
4 Expanded Access to Provide ARQ 092 for the Treatment of Overgrowth Diseases and/or Vascular Anomalies Available NCT03317366 ARQ 092

Search NIH Clinical Center for Pik3ca-Related Overgrowth Spectrum

Genetic Tests for Pik3ca-Related Overgrowth Spectrum

Genetic tests related to Pik3ca-Related Overgrowth Spectrum:

# Genetic test Affiliating Genes
1 Pik3ca Related Overgrowth Spectrum 29

Anatomical Context for Pik3ca-Related Overgrowth Spectrum

MalaCards organs/tissues related to Pik3ca-Related Overgrowth Spectrum:

41
Testes, Brain

Publications for Pik3ca-Related Overgrowth Spectrum

Articles related to Pik3ca-Related Overgrowth Spectrum:

(show all 17)
# Title Authors Year
1
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report. ( 29493003 )
2018
2
PIK3CA-related overgrowth spectrum: concurrence of multiple anomalies in one patient. ( 29578286 )
2018
3
Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS). ( 29300373 )
2018
4
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS). ( 29549527 )
2018
5
Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum. ( 27307077 )
2017
6
Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum. ( 28328134 )
2017
7
The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS). ( 28525374 )
2017
8
Prenatal Detection of PIK3CA-related Overgrowth Spectrum in Cultured Amniocytes Using Long-range PCR and Next-generation Sequencing. ( 28276293 )
2017
9
CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS). ( 27426476 )
2017
10
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing. ( 28151489 )
2017
11
Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum. ( 29231959 )
2017
12
Phenotypic heterogeneity in PIK3CA-related overgrowth spectrum. ( 27037860 )
2016
13
Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS). ( 26268729 )
2016
14
Identification and characterisation of a novel constitutional PIK3CA mutation in a child lacking the typical segmental overgrowth of 'PIK3CA-related overgrowth spectrum' (PROS). ( 26593112 )
2015
15
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors. ( 25915946 )
2015
16
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. ( 25557259 )
2015
17
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. ( 24782230 )
2014

Variations for Pik3ca-Related Overgrowth Spectrum

ClinVar genetic disease variations for Pik3ca-Related Overgrowth Spectrum:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 PIK3CA NM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
2 PIK3CA NM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 GRCh38 Chromosome 3, 179234297: 179234297
3 PIK3CA NM_006218.3(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
4 PIK3CA NM_006218.3(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic rs121913279 GRCh38 Chromosome 3, 179234297: 179234297
5 PIK3CA NM_006218.3(PIK3CA): c.1636C> A (p.Gln546Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913286 GRCh37 Chromosome 3, 178936094: 178936094
6 PIK3CA NM_006218.3(PIK3CA): c.1636C> A (p.Gln546Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913286 GRCh38 Chromosome 3, 179218306: 179218306
7 PIK3CA NM_006218.3(PIK3CA): c.1258T> C (p.Cys420Arg) single nucleotide variant Pathogenic rs121913272 GRCh37 Chromosome 3, 178927980: 178927980
8 PIK3CA NM_006218.3(PIK3CA): c.1258T> C (p.Cys420Arg) single nucleotide variant Pathogenic rs121913272 GRCh38 Chromosome 3, 179210192: 179210192
9 PIK3CA NM_006218.3(PIK3CA): c.1133G> A (p.Cys378Tyr) single nucleotide variant Pathogenic rs397514565 GRCh37 Chromosome 3, 178922364: 178922364
10 PIK3CA NM_006218.3(PIK3CA): c.1133G> A (p.Cys378Tyr) single nucleotide variant Pathogenic rs397514565 GRCh38 Chromosome 3, 179204576: 179204576
11 PIK3CA NM_006218.3(PIK3CA): c.3129G> A (p.Met1043Ile) single nucleotide variant Likely pathogenic rs121913283 GRCh37 Chromosome 3, 178952074: 178952074
12 PIK3CA NM_006218.3(PIK3CA): c.3129G> A (p.Met1043Ile) single nucleotide variant Likely pathogenic rs121913283 GRCh38 Chromosome 3, 179234286: 179234286
13 PIK3CA NM_006218.3(PIK3CA): c.311C> T (p.Pro104Leu) single nucleotide variant Likely pathogenic rs863225060 GRCh37 Chromosome 3, 178916924: 178916924
14 PIK3CA NM_006218.3(PIK3CA): c.311C> T (p.Pro104Leu) single nucleotide variant Likely pathogenic rs863225060 GRCh38 Chromosome 3, 179199136: 179199136
15 PIK3CA NM_006218.3(PIK3CA): c.3129G> T (p.Met1043Ile) single nucleotide variant Pathogenic rs121913283 GRCh37 Chromosome 3, 178952074: 178952074
16 PIK3CA NM_006218.3(PIK3CA): c.3129G> T (p.Met1043Ile) single nucleotide variant Pathogenic rs121913283 GRCh38 Chromosome 3, 179234286: 179234286
17 PIK3CA NM_006218.3(PIK3CA): c.1635G> T (p.Glu545Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121913275 GRCh37 Chromosome 3, 178936093: 178936093
18 PIK3CA NM_006218.3(PIK3CA): c.1635G> T (p.Glu545Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121913275 GRCh38 Chromosome 3, 179218305: 179218305

Expression for Pik3ca-Related Overgrowth Spectrum

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

Pathways for Pik3ca-Related Overgrowth Spectrum

GO Terms for Pik3ca-Related Overgrowth Spectrum

Sources for Pik3ca-Related Overgrowth Spectrum

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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