# Stone-Dominant Renal Phenotype Without Nephrocalcinosis in FAM20A-Related Enamel Renal Syndrome

**Authors:** Neriman Sıla Koç

PMC · DOI: 10.1016/j.ekir.2026.103783 · Kidney International Reports · 2026-01-19

## Full-text entities

- **Genes:** FAM20A (FAM20A golgi associated secretory pathway pseudokinase) [NCBI Gene 54757] {aka AI1G, AIGFS, FP2747}
- **Diseases:** renal calcifications (MESH:C565478), Nephrolithiasis (MESH:D053040), amelogenesis imperfecta (MESH:D000567), disease (MESH:D004194), distal renal tubular acidosis (MESH:D000141), urinary stone disease (MESH:D014545), Stone-Dominant Renal Phenotype (MESH:D007669), calcification (MESH:D002114), renal disorders (MESH:D007674), Nephrocalcinosis (MESH:D009397), stone formation (MESH:D058426), hypocalciuria (MESH:C564578), Enamel Renal Syndrome (OMIM:204690)
- **Chemicals:** phosphate (MESH:D010710), oxalate (MESH:D010070), calcium (MESH:D002118)
- **Species:** Homo sapiens (human, species) [taxon 9606]

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## References

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Source: https://tomesphere.com/paper/PMC12915170