MCID: PK3004
MIFTS: 21

Pik3ca-Related Overgrowth Spectrum

Categories: Cardiovascular diseases, Neuronal diseases, 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 disorders that cause overgrowth of parts of the body, due to mutations in the PIK3CA gene. Specific disorders in this spectrum include:Fibroadipose hyperplasia (also called fibroadipose overgrowth) CLOVES syndrome Megalencephaly-capillary malformation syndrome (MCAP syndrome) Hemihyperplasia�?�multiple lipomatosis syndrome (HHML syndrome) Hemimegalencephaly Facial infiltrating lipomatosis (a congenital disorder that causes overgrowth of one side of the face) Signs and symptoms of PROS depend on the specific disorder present. Depending on the disorder, they 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 area of the body (focal overgrowth) or of multiple areas of the body (segmental overgrowth), with normal growth elsewhere. PROS is caused by somatic changes (referred to as mutations, or pathogenic variants) in the PIK3CA gene. These changes typically are only present in some cells or some areas of the body (called mosaicism), and typically are not inherited. The diagnosis of a PROS disorder can be confirmed with genetic testing of the PIK3CA gene. Treatment for a PROS disorder may involve 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 nevus, epidermal. An important gene associated with Pik3ca-Related Overgrowth Spectrum is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha). The drugs Everolimus and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and skin.

Wikipedia : 76 PIK3CA-related overgrowth spectrum (PROS) is an umbrella term for rare syndromes characterized by... more...

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 11.7
2 nevus, epidermal 10.2
3 wilms tumor 6 10.2

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 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 2 159351-69-6 6442177
2
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
3
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
4 Anti-Infective Agents Phase 2
5 Antibiotics, Antitubercular Phase 2
6 Immunosuppressive Agents Phase 2
7 Antifungal Agents Phase 2
8 Immunologic Factors Phase 2
9 Anti-Bacterial 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 PIK3CA-related Overgrowth Spectrum and Proteus Syndrome 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 Study of Proteus Syndrome and Related Congenital Disorders Recruiting NCT00001403
5 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
Brain, Testes, Skin, Bone

Publications for Pik3ca-Related Overgrowth Spectrum

Articles related to Pik3ca-Related Overgrowth Spectrum:

(show all 19)
# 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
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum. ( 30270358 )
2018
6
Segmental epidermal nevus and mucosal neuromas associated with PIK3CA-related overgrowth spectrum disorder. ( 30511004 )
2018
7
Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum. ( 27307077 )
2017
8
Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum. ( 28328134 )
2017
9
The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS). ( 28525374 )
2017
10
Prenatal Detection of PIK3CA-related Overgrowth Spectrum in Cultured Amniocytes Using Long-range PCR and Next-generation Sequencing. ( 28276293 )
2017
11
CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS). ( 27426476 )
2017
12
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing. ( 28151489 )
2017
13
Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum. ( 29231959 )
2017
14
Phenotypic heterogeneity in PIK3CA-related overgrowth spectrum. ( 27037860 )
2016
15
Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS). ( 26268729 )
2016
16
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
17
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
18
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. ( 25557259 )
2015
19
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 Pathogenic/Likely pathogenic rs121913283 GRCh38 Chromosome 3, 179234286: 179234286
12 PIK3CA NM_006218.3(PIK3CA): c.3129G> A (p.Met1043Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121913283 GRCh37 Chromosome 3, 178952074: 178952074
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
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44 MeSH
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49 NCI
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51 NDF-RT
54 NINDS
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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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