Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
CLOVES syndrome is associated with somatic mosaic PIK3CA mutations and characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies.
|
28627003 |
2017 |
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Phenotype-genotype correlation analysis showed PIK3CA mutation hotspots at residues E542, E545, and H1047 are often associated with CLOVES syndrome, whereas PIK3CA G914R is preferentially related to MCAP.
|
28502725 |
2017 |
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
This makes us to think that these could be hamartomatous lesions similar to those of the CLOVES syndrome or a PIK3CA mutation.
|
27575310 |
2017 |
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans.
|
27030595 |
2016 |
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
|
0.950 |
Biomarker
|
disease |
BEFREE |
This PIK3CA-associated segmental overgrowth syndrome overlaps with CLOVES syndrome and fibroadipose hyperplasia but is distinct from each of these entities.
|
24665065 |
2014 |
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
|
22729224 |
2012 |
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.
|
22658544 |
2012 |
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.
|
22658544 |
2012 |
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
|
0.950 |
SomaticCausalMutation
|
disease |
ORPHANET |
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.
|
22658544 |
2012 |
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome.
|
19011570 |
2009 |
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
|
0.950 |
Biomarker
|
disease |
CTD_human |
|
|
|
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
|
0.950 |
Biomarker
|
disease |
MGD |
|
|
|
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
|
|
|