OnlineIMD
PIK3CA-related overgrowth syndrome
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
PIK3CA
/ Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
3q26.32
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha
Disease group(s)
14.5.2 Disorders of phosphatidylinositol metabolism
Child entries
CLAPO syndrome
CLOVES syndrome
Hemihyperplasia-multiple lipomatosis syndrome
PIK3CA-related Klippel-Trénaunay syndrome
PIK3CA-related megalencephaly-capillary malformation syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia