Pik3ca-Related Overgrowth Spectrum disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

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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...

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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
1	klippel-trenaunay-weber syndrome	11.7
2	nevus, epidermal	10.2
3	wilms tumor 6	10.2

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Symptoms & Phenotypes for Pik3ca-Related Overgrowth Spectrum

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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

Synonyms:

(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone

(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone

(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont

(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy

(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone

(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone

001, RAD

07741_FLUKA

159351-69-6

40-O-(2-hydroxyethyl)-rapamycin

40-O-(2-Hydroxyethyl)-rapamycin

42-O-(2-Hydroxyethyl)rapamycin

Afinitor

Certican

CERTICAN(R)

CHEMBL1201755

D02714

DB01590

everolimus

Everolimus

Everolimus (JAN/USAN/INN)

Everolimus [USAN]

LS-143292

MolPort-003-847-342

MolPort-003-925-588

NCGC00167512-01

NVP-RAD-001

RAD 001

RAD, SDZ

RAD001

RAD-001

RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus

RAD-001C

S1120_Selleck

SDZ RAD

SDZ-RAD

UNII-9HW64Q8G6G

Zortress

2

Sirolimus

Approved, Investigational

Phase 2

53123-88-9

46835353 6436030 5284616

Synonyms:

(-)-rapamycin

(-)-Rapamycin

1fkb

1pbk

23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine

23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine

23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29

3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone

53123-88-9

A422989, NSC226080

AC1L1JH9

AC1L7MJ9

AC1L9ZMV

AC-722

Ambotz53123-88-9

Antibiotic AY 22989

AY 22989

AY22989

AY-22989

BIDD:PXR0165

Bio1_000293

Bio1_000782

Bio1_001271

Bio2_000375

Bio2_000855

BiomolKI2_000084

C07909

C51H79NO13

CBiol_002007

CCRIS 9024

CHEBI:100923

CHEBI:9168

CHEMBL413

CID10213190

CID10795871

CID11949238

CID11959112

CID313006

CID478951

CID5040

CID5284616

CID5358081

CID5374464

CID5460439

CID5497196

CID5924240

CID6436030

CID6610270

CID6610346

CID6711160

CID6713081

CID9833581

CID9854379

CID9854380

CID9962926

CID9962928

D00753

DB00877

DE-109

DivK1c_006936

FT-0082351

heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy

HMS2089A21

HSDB 7284

KBio1_001880

KBio2_000410

KBio2_002978

KBio2_005546

KBio3_000779

KBio3_000780

KBioGR_000410

KBioSS_000410

LCP-Siro

LMPK06000003

LS-143290

MLS000028373

MolMap_000043

MolPort-003-959-433

MS-R001

NCGC00021305-05

nchembio.100-comp4

nchembio.2007.42-comp2

nchembio.79-comp1

nchembio762-comp1

nchembio883-comp3

NCI60_001851

NCIMech_000355

NSC 226080

NSC226080

Perceiva

QTL1_000069

R0395_SIAL

R0395_SIGMA

RAP

RAPA

Rapammune

Rapamune

Rapamune (TN)

rapamycin

Rapamycin

Rapamycin (TN)

Rapamycin C-7, analog 4

Rapamycin from Streptomyces hygroscopicus

Rapamycin Immunosuppressant Drug

RPM

S1039_Selleck

SIIA 9268A

SILA 9268A

SILA9268A

sirolimus

Sirolimus

sirolimús

Sirolimus (RAPAMUNE)

Sirolimus (USAN/INN)

Sirolimus [USAN:BAN:INN]

Sirolimus, Rapamune,Rapamycin

sirolimusum

SMP1_000255

SMR000058564

SpecPlus_000840

UNII-W36ZG6FT64

UNM-0000358684

Wy 090217

WY-090217

3

Miconazole

Approved, Investigational, Vet_approved

Phase 2

22916-47-8

4189

Synonyms:

(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole

1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole

1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole

1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole

1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole

1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole

1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole

1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole

1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole

1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole

22832-87-7 (NITRATE)

22916-47-8

75319-47-0

AB00053500

AC1L1HM1

Aflorix(nitrate)

AKOS001574474

Albistat(nitrate)

Andergin(nitrate)

BPBio1_000279

BRD-A82396632-001-03-0

BRD-A82396632-008-02-7

Brentan

BRN 0965511

BSPBio_000253

BSPBio_002033

CCRIS 7924

CHEBI:6923

CHEMBL91

CID4189

Conofite(nitrate)

CPD-4501

D00416

Dactarin

Daktarin iv

Daktarin IV

DB01110

DivK1c_000156

EINECS 245-324-5

Epi-Monistat(nitrate)

Esteve brand OF miconazole

Femizol-M

Florid(nitrate)

Gyno-Daktar(nitrate)

HMS1568M15

HMS2090B21

I14-14342

IDI1_000156

imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)

Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)

Janssen cilag brand OF miconazole

Janssen-cilag brand OF miconazole

Johnston and johnston brand OF miconazole nitrate

KBio1_000156

KBio2_001445

KBio2_004013

KBio2_006581

KBio3_001533

KBioGR_000581

KBioSS_001445

Lotrimin AF(nitrate)

LS-78378

MCZ

Micantin (nitrate)

Miconasil nitrate

Miconasil Nitrate

Miconazol

Miconazol [INN-Spanish]

miconazole

Miconazole

Miconazole (JP15/USP/INN)

Miconazole [USAN:BAN:INN:JAN]

Miconazole 3

Miconazole 3 Combination Pack

Miconazole 7 Combination Pack

Miconazole esteve brand

Miconazole janssen-cilag brand

Miconazole nitrate

Miconazole nitrate salt

Miconazole-7

Miconazolo

Miconazolo [DCIT]

Miconazolum

Miconazolum [INN-Latin]

Micozole

Minostate

MJR 1762

MLS002222203

MolPort-002-557-553

Monazole 7

Monista (nitrate)

Monistat

Monistat (TN)

Monistat 1 Combination Pack

Monistat 3 Dual-Pak

Monistat 3 Vaginal Ovules

Monistat 5 Tampon

Monistat 7 Dual-Pak

Monistat 7 Vaginal Suppositories

Monistat Dual- PAK

Monistat IV

Monistat iv (tn)

Monistat iv (TN)

Monistat-Derm

NCI60_001353

NCI60_001380

NINDS_000156

Nitrate, miconasil

Nitrate, miconazole

Novo-Miconazole Vaginal Ovules

NSC 170986

NSC169434

NSC170986

Oprea1_091955

Prestwick_335

Prestwick0_000067

Prestwick1_000067

Prestwick2_000067

Prestwick3_000067

R 18134

R-14,889

SMR001307249

SPBio_000976

SPBio_002174

Spectrum_000965

Spectrum2_001048

Spectrum3_000507

Spectrum4_000061

Spectrum5_001297

STK834405

STOCK1S-93556

UNII-7NNO0D7S5M

Vusion

Zimycan

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

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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

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Anatomical Context for Pik3ca-Related Overgrowth Spectrum

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

⁴¹

Brain, Testes, Skin, Bone

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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 )	Denorme P....Brems H.	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 )	Parker VER...Biesecker LG	2018
6	Segmental epidermal nevus and mucosal neuromas associated with PIK3CA-related overgrowth spectrum disorder. ( 30511004 )	Roth GM...Wanat KA	2018
7	Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum. ( 27307077 )	Hucthagowder V....Cottrell C.E.	2017
8	Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum. ( 28328134 )	Yeung K.S....Chung B.H.	2017
9	The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS). ( 28525374 )	Suzuki Y....Wakamatsu N.	2017
10	Prenatal Detection of PIK3CA-related Overgrowth Spectrum in Cultured Amniocytes Using Long-range PCR and Next-generation Sequencing. ( 28276293 )	Quinlan-Jones E....Kilby M.D.	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 )	Vahidnezhad H....Uitto J.	2016
15	Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS). ( 26268729 )	Vahidnezhad H....Uitto J.	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 )	Donato N.D....O'Driscoll M.	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 )	Loconte D.C....Resta N.	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

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Genes for Pik3ca-Related Overgrowth Spectrum

Genes related to Pik3ca-Related Overgrowth Spectrum (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	428.61	Pathogenic ⁶ GeneCards inferred via : Publications Variants (show sections)	23946963 27631024

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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

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Expression for Pik3ca-Related Overgrowth Spectrum

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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia