PIK3CA - Gene browser

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.

18Patients

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

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

018
Patient count

Macrocephaly: 12 (66.7%)
Patient Count: 12 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
12 (66.7%)
Intellectual disability: 5 (27.8%)
Patient Count: 5 (27.8%)
% of total patients presenting each phenotype is shown in parentheses.
5 (27.8%)
Polymicrogyria: 4 (22.2%)
Patient Count: 4 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
4 (22.2%)
Hypertelorism: 4 (22.2%)
Patient Count: 4 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
4 (22.2%)
Abnormal facial shape: 3 (16.7%)
Patient Count: 3 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
3 (16.7%)