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PKHD1 and polycystic kidney disease are reported together in 7 articles.
Gene
PKHD1
- HGNC
- HGNC:9016
8articles
8mentions
10variants with confirmed gene link (top 10)
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Polycystic kidney disease
66articles
66mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
7 records shown · first 60Pegcetacoplan-induced remission in pediatric immune-complex membranoproliferative glomerulonephritis with comorbid autosomal recessive polycystic kidney disease: a case report.
PMID 41884136 | PMCID PMC13010528 | DOI 10.3389/fmed.2026.1668375 · Frontiers in medicine · 2026 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PKHD1 | “Renal biopsy confirmed immune complex-mediated MPGN (IC-MPGN), and genetic testing revealed a homozygous, pathogenic missense PKHD1 variant (NM_138694.3:c.4870C > T; p.(Arg1624Trp), leading to a diagnosis of autosomal recessive polycystic kidney disease (ARPKD).” | 0.98 | hgnc_dict_v1 |
| phenotype | polycystic kidney disease | “Pegcetacoplan-induced remission in pediatric immune-complex membranoproliferative glomerulonephritis with comorbid autosomal recessive polycystic kidney disease: a case report.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | hypertension | “BACKGROUND: Membranoproliferative glomerulonephritis (MPGN) is a rare glomerular disorder characterized by immune complex or complement-mediated injury, often leading to nephrotic syndrome, hypertension, and progressive renal dysfunction.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | nephrotic syndrome | “BACKGROUND: Membranoproliferative glomerulonephritis (MPGN) is a rare glomerular disorder characterized by immune complex or complement-mediated injury, often leading to nephrotic syndrome, hypertension, and progressive renal dysfunction.” | 0.98 | phenotype_alias_lexicon_v2 |
Intronic and Coding Genetic Variants in Autosomal Recessive Polycystic Kidney Disease Among Israeli Bedouins of Arabian Peninsula Ancestry.
PMID 40816622 | DOI 10.1053/j.ajkd.2025.06.011 · American journal of kidney diseases : the official journal of the National Kidney Foundation · 2025 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PKHD1 | “RATIONALE & OBJECTIVE: Autosomal recessive polycystic kidney disease (ARPKD) is typically caused by biallelic PKHD1 variants.” | 0.98 | hgnc_dict_v1 |
| phenotype | polycystic kidney disease | “Intronic and Coding Genetic Variants in Autosomal Recessive Polycystic Kidney Disease Among Israeli Bedouins of Arabian Peninsula Ancestry.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “SETTING & PARTICIPANTS: Twelve Bedouin patients of 5 unrelated families of Arabian Peninsula ancestry with ARPKD whose causative variant was unknown despite standard genetic analyses.” | 0.80 | saudi_context_rules_v1 |
Identification of PKHD1 mutations in Brain, Breast and Rectal tumors by Next Generation DNA Sequencing.
PMID 33716212 · The Gulf journal of oncology · 2021 · 14 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PKHD1 | “Identification of PKHD1 mutations in Brain, Breast and Rectal tumors by Next Generation DNA Sequencing.” | 0.98 | hgnc_dict_v1 |
| phenotype | polycystic kidney disease | “INTRODUCTION: It is well established that the PKHD1 mutations are associated with autosomal recessive polycystic kidney disease (ARPKD).” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | rs113562492 | “In phyllodes tumor of breast, two unique missense variants were detected (rs113562492) p. (Met2841Val); and (rs137972270) in p. (Arg589Cys) and these variants are not present in other tumors tested.” | 0.90 | hgvs_regex_v1 |
| variant | rs137972270 | “In phyllodes tumor of breast, two unique missense variants were detected (rs113562492) p. (Met2841Val); and (rs137972270) in p. (Arg589Cys) and these variants are not present in other tumors tested.” | 0.90 | hgvs_regex_v1 |
Exome sequencing of Saudi Arabian patients with ADPKD.
PMID 31488014 | PMCID PMC6735335 | DOI 10.1080/0886022X.2019.1655453 · Renal failure · 2019 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PKHD1 | “In seven clinically diagnosed ADPKD cases but with atypical features, no PKD1 or PKD2 mutations were identified, but rare predicted pathogenic heterozygous variants were found in cystogenic candidate genes including PKHD1, PKD1L3, EGF, CFTR, and TSC2.” | 0.98 | hgnc_dict_v1 |
| phenotype | polycystic kidney disease | “Exome sequencing of Saudi Arabian patients with ADPKD.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | PKD1 | “The Consortium of Radiologic Imaging Studies of the Polycystic Kidney Disease (CRISP) cohort revealed that 89.1% had either a PKD1 or PKD2 mutation.” | 0.98 | hgnc_dict_v1 |
| gene | PKD2 | “The Consortium of Radiologic Imaging Studies of the Polycystic Kidney Disease (CRISP) cohort revealed that 89.1% had either a PKD1 or PKD2 mutation.” | 0.98 | hgnc_dict_v1 |
Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease.
PMID 27401137 | DOI 10.1016/j.gene.2016.07.021 · Gene · 2016 · 16 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PKHD1 | “Four potential pathogenic variants [c.4870C>T, p.(Arg1624Trp)], [c.5725C>T, p.(Arg1909Trp)], c.1736C>T, p.(Thr579Met)] and [(c.10628T>G), p.(Leu3543Trp)] were observed in PKHD1 gene among 12 out of 18 samples.” | 0.98 | hgnc_dict_v1 |
| phenotype | polycystic kidney disease | “Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | PKD1 | “The rest of the patient samples also showed few variants in ADPKD (Autosomal Dominant Polycystic Kidney Disease) disease causing genes PKD1 and PKD2 i.e. [c.12433G>A, p.(Val4145Ile)] and [c.1445T>G, p.(Phe482Cys)], respectively.” | 0.98 | hgnc_dict_v1 |
| gene | PKD2 | “The rest of the patient samples also showed few variants in ADPKD (Autosomal Dominant Polycystic Kidney Disease) disease causing genes PKD1 and PKD2 i.e. [c.12433G>A, p.(Val4145Ile)] and [c.1445T>G, p.(Phe482Cys)], respectively.” | 0.98 | hgnc_dict_v1 |
Functional alterations due to amino acid changes and evolutionary comparative analysis of ARPKD and ADPKD genes.
PMID 27843768 | PMCID PMC5099264 | DOI 10.1016/j.gdata.2016.10.009 · Genomics data · 2016 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PKHD1 | “The results identified four potential pathogenic variants in PKHD1 gene [c.4870C > T, p.(Arg1624Trp), c.5725C > T, p.(Arg1909Trp), c.1736C > T, p.(Thr579Met) and c.10628T > G, p.(Leu3543Trp)] among 12 out of 18 samples.” | 0.98 | hgnc_dict_v1 |
| phenotype | polycystic kidney disease | “Functional alterations due to amino acid changes and evolutionary comparative analysis of ARPKD and ADPKD genes.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | PKD1 | “Some patient samples also showed few variants in autosomal dominant polycystic kidney disease (ADPKD) disease causing genes PKD1 and PKD2 such as c.12433G > A, p.(Val4145Ile) and c.1445T > G, p.(Phe482Cys), respectively.” | 0.98 | hgnc_dict_v1 |
| gene | PKD2 | “Some patient samples also showed few variants in autosomal dominant polycystic kidney disease (ADPKD) disease causing genes PKD1 and PKD2 such as c.12433G > A, p.(Val4145Ile) and c.1445T > G, p.(Phe482Cys), respectively.” | 0.98 | hgnc_dict_v1 |
Molecular basis of autosomal recessive polycystic kidney disease (ARPKD).
PMID 18156813 | DOI 10.1097/PAP.0b013e31815e5295 · Advances in anatomic pathology · 2008 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PKHD1 | “The gene for ARPKD (PKHD1) is located on chromosome 6p12 and encodes a protein called fibrocystin/polyductin (FPC), 1 of many proteins that are normally present at the primary cilia of the renal tubules and intrahepatic bile ducts.” | 0.98 | hgnc_dict_v1 |
| phenotype | polycystic kidney disease | “Molecular basis of autosomal recessive polycystic kidney disease (ARPKD).” | 0.98 | phenotype_alias_lexicon_v2 |