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PKHD1 and nephrotic syndrome are reported together in 1 article.
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
Nephrotic syndrome
108articles
108mentions
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
1 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 | 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 |
| 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 |