PIK3CA

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
OMIM: 171834
PanelMode of inheritanceDetails
11 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI 612918, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3 602501, HEMIMEGALENCEPHALY PIK3CA
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, HEMIMEGALENCEPHALY PIK3CA
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501, Megalencephaly-capillary malformation-polymicrogyria syndrome, Orphanet:60040
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Macrodactyly, somatic 155500, Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501, CLOVE syndrome, somatic 612918, Polydactyly, CLAPO syndrome, somatic 613089
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polymicrogyria, hemimegalencephaly, macrocephaly
R-numbers: R327
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PIK3CA-related overgrowth syndromes, Vascular malformations
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Megalencephaly-capillary malformation-polymicrogyria syndrome, 602501, CLOVE syndrome, CLOVES, congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, 612918, Congenital Lipomatous Overgrowth Vascular Malformations, Epidermal Nevi and Scoliosis/Skeletal/Spinal anomalies syndrome, CLOVES syndrome, Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi, Megalencephaly-Capillary Malformation- Polymicrogyria Syndrome, macrocephaly-capillary malformation (MCM) syndrome, Megalencephaly-Capillary malformation syndrome, Macrocephaly and Overgrowth Syndromes, MCAP
R-numbers: R236
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
MCAP, PIK3CA-related overgrowth syndromes, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, Vascular malformations
R-numbers: R110
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Megalencephaly-capillary malformation-polymicrogyria syndrome, 602501, MCAP, congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, 612918, CLOVE syndrome, Macrocephaly and Overgrowth Syndromes, Megalencephaly-Capillary malformation syndrome, Congenital Lipomatous Overgrowth Vascular Malformations, Epidermal Nevi and Scoliosis/Skeletal/Spinal anomalies syndrome, CLOVES syndrome, Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi, Megalencephaly-Capillary Malformation- Polymicrogyria Syndrome, CLOVES, Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, macrocephaly-capillary malformation (MCM) syndrome
R-numbers: R326
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PIK3CA-related overgrowth syndromes, Vascular malformations