Genopathy
Gene-Disorder Association · Article
Gene
PKHD1
PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin
Disorder
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
First reported 1999
Supporting publications 177
Key publication · gene–disorder A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6.Genomics · 1999
Key publication · disorder Left ventricular hypertrophy in infantile polycystic kidney disease; electrocardiographic and post-mortem evidence.Journal of the American Medical Association · 1951
Manually curated
Association Review

In brief

The association between PKHD1 (PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin) and Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 4,998
Symptoms 75
Compounds 0
Trials 0
Publications 177
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

5 sources

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

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03
PKHD1

The gene

1 source summary

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

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04
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

The disorder

15 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

61 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

4,998 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

177 publications

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

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09
Provenance

References & sources

16 references

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

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