MCID: PK3001
MIFTS: 13

Pik3ca-Related Segmental Overgrowth

Aliases & Classifications for Pik3ca-Related Segmental Overgrowth

MalaCards integrated aliases for Pik3ca-Related Segmental Overgrowth:

Name: Pik3ca-Related Segmental Overgrowth 24

Characteristics:

GeneReviews:

24
Penetrance Degree of incomplete penetrance cannot be assessed in a mosaic genetic disorder.

Summaries for Pik3ca-Related Segmental Overgrowth

MalaCards based summary : Pik3ca-Related Segmental Overgrowth is related to overgrowth syndrome and beckwith-wiedemann syndrome. An important gene associated with Pik3ca-Related Segmental Overgrowth is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha). Affiliated tissues include brain, ovary and prostate.

GeneReviews: NBK153722

Related Diseases for Pik3ca-Related Segmental Overgrowth

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



Diseases related to Pik3ca-Related Segmental Overgrowth

Symptoms & Phenotypes for Pik3ca-Related Segmental Overgrowth

Drugs & Therapeutics for Pik3ca-Related Segmental Overgrowth

Search Clinical Trials , NIH Clinical Center for Pik3ca-Related Segmental Overgrowth

Genetic Tests for Pik3ca-Related Segmental Overgrowth

Anatomical Context for Pik3ca-Related Segmental Overgrowth

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

41
Brain, Ovary, Prostate, Endothelial

Publications for Pik3ca-Related Segmental Overgrowth

Articles related to Pik3ca-Related Segmental Overgrowth:

(show top 50) (show all 80)
# Title Authors PMID Year
1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome: a case report. 4
22859694 2013
2
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. 4
23100325 2013
3
Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. 4
23246288 2013
4
Macrocephaly-capillary malformation syndrome in a newborn with tetralogy of fallot and sagittal sinus thrombosis. 4
22451530 2013
5
PIK3CA mutations in advanced cancers: characteristics and outcomes. 4
23248156 2012
6
[Macrocephaly-capillary malformation. A neonatal case]. 4
22884750 2012
7
Phenotypic progression of skeletal anomalies in CLOVES syndrome. 4
22628280 2012
8
Hemimegalencephalic variant of epidermal nevus syndrome: case report and literature review. 4
22200538 2012
9
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 4
22658544 2012
10
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. 4
22729223 2012
11
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 4
22729224 2012
12
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. 4
22729222 2012
13
Macrocephaly-capillary malformation presenting with fetal arrhythmia. 4
22329570 2012
14
Somatic activation of AKT3 causes hemispheric developmental brain malformations. 4
22500628 2012
15
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. 4
22228622 2012
16
Complex spinal-paraspinal fast-flow lesions in CLOVES syndrome: analysis of clinical and imaging findings in 6 patients. 4
21310861 2011
17
Oncogenic PIK3CA-driven mammary tumors frequently recur via PI3K pathway-dependent and PI3K pathway-independent mechanisms. 4
21822287 2011
18
A mosaic activating mutation in AKT1 associated with the Proteus syndrome. 4
21793738 2011
19
A proposal for classification of entities combining vascular malformations and deregulated growth. 4
21356335 2011
20
MPPH syndrome: two new cases. 4
21481746 2011
21
Comments on the diagnosis and management of CLOVES syndrome. 4
21504461 2011
22
PIK3CA mutations frequently coexist with RAS and BRAF mutations in patients with advanced cancers. 4
21829508 2011
23
Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria. 4
21077203 2010
24
CLOVES syndrome with thoracic and central phlebectasia: increased risk of pulmonary embolism. 4
20537357 2010
25
Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly. 4
20533527 2010
26
Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus. 4
20503325 2010
27
Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update. 4
19763591 2010
28
Hypomelanosis of Ito with hemimegalencephaly. 4
19951648 2009
29
Syndrome of megalencephaly, polydactyly, and polymicrogyria lacking frank hydrocephalus, with associated MR imaging findings. 4
19369601 2009
30
Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes. 4
19353582 2009
31
The misnomer "macrocephaly-cutis marmorata telangiectatica congenita syndrome": report of 12 new cases and support for revising the name to macrocephaly-capillary malformations. 4
19289759 2009
32
Tagging single-nucleotide polymorphisms in candidate oncogenes and susceptibility to ovarian cancer. 4
19240718 2009
33
CLOVE(S) syndrome: expanding the acronym. 4
19161149 2009
34
PTEN and the PI3-kinase pathway in cancer. 4
18767981 2009
35
Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome. 4
19011570 2009
36
Corpus callosotomy in a patient of hemimegalencephaly and Lennox-Gastaut syndrome. 4
18439776 2008
37
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder. 4
18816642 2008
38
Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly. 4
18474936 2008
39
Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. 4
17963221 2007
40
Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients. 4
18000912 2007
41
Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM). 4
17963258 2007
42
Megalencephaly and polymicrogyria with polydactyly syndrome. 4
17675034 2007
43
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case. 4
18058629 2007
44
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 4
17392703 2007
45
Surgical management of cerebellar tonsillar herniation in three patients with macrocephaly-cutis marmorata telangiectatica congenita. Report of three cases. 4
17465364 2007
46
Rare mutations of the PIK3CA gene in malignancies of the hematopoietic system as well as endometrium, ovary, prostate and osteosarcomas, and discovery of a PIK3CA pseudogene. 4
16764926 2007
47
A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome. 4
16807158 2006
48
The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolism. 4
16847462 2006
49
Hemimegalencephaly: clinical implications and surgical treatment. 4
16821075 2006
50
Oncogenic PI3K and its role in cancer. 4
16357568 2006

Variations for Pik3ca-Related Segmental Overgrowth

Expression for Pik3ca-Related Segmental Overgrowth

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

Pathways for Pik3ca-Related Segmental Overgrowth

GO Terms for Pik3ca-Related Segmental Overgrowth

Sources for Pik3ca-Related Segmental Overgrowth

3 CDC
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64 QIAGEN
69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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