PIK3CD

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

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A heterozygous change in the PIK3CD gene was identified in a UDN participant with global developmental delay, eye and vision abnormalities, and gastrointestinal dysmotility.

Date of Report

Jun 10, 2025

Full Name

Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta

Location

Chromosome 1 (1p36.22)

Function

This gene encodes for a protein that is involved in the immune response and is found primarily in leukocytes. It binds to p85 adapter proteins and GTP-bound RAS, and uniquely phosphorylates itself rather than p85 protein [provided by RefSeq, Jul 2010].

Database Links

GeneCards: PIK3CD

NCBI Gene: 5293

OMIM: 602839

UniProtKB/Swiss-Prot: O00329

Clinical Significance

A heterozygous change in this gene was identified in a UDN participant.

Gene PIK3CD

Inheritance Pattern Autosomal dominant and recessive

Position (hg19) chr1:g.9784870G>A

Transcript NM_005026.5

DNA Change c.2873G>A

Protein Change p.Gly958Asp

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