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Article

Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

Journal of the American Society of Nephrology : JASN - 1 Jul 2010

Vujic Mihailo, Heyer Christina M, Ars Elisabet, Hopp Katharina, Markoff Arseni, Orndal Charlotte, Rudenhed Bengt, Nasr Samih H, Torres Vicente E, Torra Roser, Bogdanova Nadja, Harris Peter C

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD), caused by mutation in PKD1 or PKD2, is usually an adult-onset disorder but can rarely manifest as a neonatal disease within a family characterized by otherwise typical ADPKD. Coinheritance of a hypomorphic PKD1 allele in trans with an inactivating PKD1 allele is one mechanism that can cause early onset ADPKD. Here, we describe two pedigrees without a history...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20558538
DOI: 10.1681/ASN.2009101070
PMCID: PMC3152226

Genes

PKD1
PKHD1
PKD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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