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PIK3CA

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

HCNC Approved Symbol
PIK3CA (HGNC:8975)
Genomic Coordinates
3:179,148,126 - 179,240,093 (3q26.32)
Synonyms
PI3K
Disease Associations
This gene is associated with the following 15 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Breast cancer, somatic
114480-
Cerebral cavernous malformations 4, somatic
619538-
CLAPO syndrome, somatic
613089-
CLOVE syndrome, somatic
612918-
Colorectal cancer, somatic
114500-
Cowden syndrome 5
615108-
Gastric cancer, somatic
613659-
Hemifacial myohyperplasia, somatic
606773-
Hepatocellular carcinoma, somatic
114550-
Keratosis, seborrheic, somatic
182000-
Macrodactyly, somatic
155500-
Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic
602501-
Nevus, epidermal, somatic
162900-
Nonsmall cell lung cancer, somatic
211980-
Ovarian cancer, somatic
167000-

Diagnosed Cases

18Patients

In total, 18 patients were diagnosed with a variant in the PIK3CA gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Macrocephaly
 12 (66.7%)
Intellectual disability
 5 (27.8%)
Polymicrogyria
 4 (22.2%)
Hypertelorism
 4 (22.2%)
Abnormal facial shape
 3 (16.7%)