Genopathy
Gene-Disorder Association · Article
Gene
PKD1
Polycystin 1, Transient Receptor Potential Channel Interacting
Disorder
Autosomal Dominant Polycystic Kidney Disease
First reported 1990
Supporting publications 190
Key publication · gene–disorder The diagnosis and prognosis of autosomal dominant polycystic kidney disease.The New England journal of medicine · 1990
Key publication · disorder Adult polycystic kidney disease: studies of the defect in urine concentration.Kidney international · 1972
Manually curated
Association Review

In brief

The association between PKD1 (Polycystin 1, Transient Receptor Potential Channel Interacting) and Autosomal Dominant Polycystic Kidney Disease is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic and likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 4,033
Symptoms 26
Compounds 0
Trials 0
Publications 190
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
PKD1

The gene

1 source summary

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

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04
Autosomal Dominant Polycystic Kidney Disease

The disorder

12 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

26 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

4,033 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

190 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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