Genopathy
Gene-Disorder Association · Article
Gene
PIK3CA
Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha
Disorder
Pik3ca-Related Overgrowth Syndrome
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 curated
Association Review

In brief

The association between PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha) and Pik3ca-Related Overgrowth Syndrome is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic and likely-pathogenic variants.

Sources 2
Clinical variants 56
Symptoms 0
Compounds 0
Trials 0
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

2 sources

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 Syndrome

The disorder

3 database identifiers

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
Literature

Reading

16 publications

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

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07
Provenance

References & sources

13 references

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

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