Genopathy
Gene-Disorder Association · Article
Gene
WNK3
WNK Lysine Deficient Protein Kinase 3
Disorder
Prieto Syndrome
First reported 2022
Supporting publications 3
Key publication · gene–disorder Rare pathogenic variants in WNK3 cause X-linked intellectual disability.Genetics in medicine : official journal of the American College of Medical Genetics · 2022
Key publication · disorder Genetic studies of influenza viruses. I. Viral morphology and growth capacity as exchangeable genetic traits. Rapid in ovo adaptation of early passage Asian strain isolates by combination with PR8.The Journal of experimental medicine · 1960
Manually curated
Association Review

In brief

The association between WNK3 (WNK Lysine Deficient Protein Kinase 3) and Prieto Syndrome is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 3
Clinical variants 11
Symptoms 41
Compounds 0
Trials 0
Publications 3
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

3 sources

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

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03
WNK3

The gene

1 source summary

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

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04
Prieto Syndrome

The disorder

11 database identifiers

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

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05
Phenotype

Clinical features

30 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

11 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

3 publications

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

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09
Provenance

References & sources

10 references

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

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