Genopathy
Gene-Disorder Association · Article
Gene
PIK3CA
Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha
Disorder
Pik3ca-Related Overgrowth Spectrum
First reported 2016
Supporting publications 16
Key publication · gene–disorder Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.American journal of medical genetics. Part A · 2016
Key publication · disorder Pros and cons of tonsillectomy.British medical journal · 1951
Manually curatedApproved treatment annotated
Association Review

In brief

The association between PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha) and Pik3ca-Related Overgrowth Spectrum is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 56
Symptoms 0
Compounds 1
Trials 5of 104 via PIK3CA compounds
Publications 16
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
PIK3CA

The gene

3 source summaries

A gene summary alongside the source descriptions it was distilled from.

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04
Pik3ca-Related Overgrowth Spectrum

The disorder

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
ClinVar and variant evidence

Genetic basis

56 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Interventions

Therapeutics

1 compound or drug

Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.

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07
Human studies

Clinical trials

104 clinical trials

Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.

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08
Literature

Reading

16 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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09
Provenance

References & sources

14 references

Every source and publication cited across this dossier, as one numbered reference list.

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