Gene: PKHD1
Alternate names for this Gene: ARPKD|FCYT|FPC|PKD4|TIGM1
Gene Summary: The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1.
Gene is located in Chromosome: 6
Location in Chromosome : 6p12.3-p12.2
Description of this Gene: PKHD1 ciliary IPT domain containing fibrocystin/polyductin
Type of Gene: protein-coding
rs1037991711 in
PKHD1 gene and
Autosomal Recessive Polycystic Kidney Disease
PMID 25015577 2014 Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference.
PMID 15108281 2004 PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
PMID 16133180 2005 Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).
PMID 15698423 2005 Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
PMID 12846734 2003 A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
PMID 27225849 2016 Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.
PMID 26695994 2015 Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.
PMID 24162162 2014 Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.
PMID 15805161 2005 Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
PMID 19914852 2010 PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
PMID 25701400 2015 A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients.
PMID 16677362 2006 Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation.
PMID 12874454 2003 Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.
PMID 12506140 2003 Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
PMID 11919560 2002 The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
PMID 11898128 2002 PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.
PMID 16632497 2006 G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss.
PMID 16523049 2006 Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).
PMID 19021639 2009 Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease.
PMID 25114813 2014 Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease.
PMID 15696446 2005 Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease.
PMID 15108277 2004 PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
PMID 20413436 2010 Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.
PMID 16199545 2005 Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD).
PMID 21274727 2011 First, we assayed a European cohort of ARPKD patients and found T36M was responsible for 13.1% of mutations.
PMID 25124979 2014 Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease.
PMID 26673778 2016 Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.
PMID 19940839 2010 Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.
PMID 24984783 2014 Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1.
PMID 15706593 2005 Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).
PMID 25966130 2015 Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly.
PMID 14741187 2004 Molecular genetics of autosomal recessive polycystic kidney disease.
PMID 22034641 2011 Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.
PMID 14971004 2004 Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysis.
PMID 19940939 2009 Rhizobacteria containing ACC-deaminase confer salt tolerance in maize grown on salt-affected fields.
PMID 27491411 2016 Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.
PMID 28851938 2017 Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation.
PMID 24710345 2014 Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease.
PMID 29643536 2018 [Genetic diagnosis of Caroli syndrome with autosomal recessive polycystic kidney disease: a case report and literature review].
PMID 1189128 1975 [Neoplasic perineal implantation following needle biopsy (author's transl)].
PMID 18503009 2008 Nephrectomy in an autosomal recessive polycystic kidney disease (ARPKD) patient with rapid kidney enlargement and increased expression of EGFR.
PMID 12925574 2003 Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia.
PMID 23582048 2013 Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome.
PMID 26721323 2016 An Ashkenazi founder mutation in the PKHD1 gene.
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
PMID 28170084 2017 Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
PMID 29956005 2018 Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
PMID 23389334 2013 The recurrence of PKHD1 mutation c.9319C>T (p.R3107X) in the ARPKD population might be a good evidence that it is disease associated.
PMID 25193386 2015 Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD.
PMID 21945273 2011 Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease.
rs1321512 in
PKHD1 gene and
Body mass index
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs1581717 in
PKHD1 gene and
Cardiovascular Diseases
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs13205180 in
PKHD1 gene and
Diastolic blood pressure
PMID 28135244 2017 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.
PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.
rs7766366 in
PKHD1 gene and
Forced expiratory volume function
PMID 26423011 2015 Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.
rs12212034 in
PKHD1 gene and
Glomerular Filtration Rate
PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.
rs9463733 in
PKHD1 gene and
Hair Color
PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.
rs11754532 in
PKHD1 gene and
Leukemia, Myelocytic, Acute
PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
rs369925690 in
PKHD1 gene and
Nephronophthisis
PMID 19914852 2010 PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
PMID 11898128 2002 PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.
PMID 15805161 2005 Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
PMID 15698423 2005 Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
rs2025751 in
PKHD1 gene and
Physiologic Intraocular Pressure
PMID 24002674 2014 Genome-wide association study and meta-analysis of intraocular pressure.
rs137852944 in
PKHD1 gene and
Polycystic liver disease
PMID 28375157 2017 Isolated polycystic liver disease genes define effectors of polycystin-1 function.
rs9296668 in
PKHD1 gene and
Red Blood Cell Count measurement
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs2025751 in
PKHD1 gene and
Tonometry
PMID 24002674 2014 Genome-wide association study and meta-analysis of intraocular pressure.
rs146895361 in
PKHD1 gene and
response to bronchodilator
PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.