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Trait

Renal phosphate wasting

High urine phosphate in the presence of hypophosphatemia.

HPO HP:0000117

Summary

Also called
Decreased renal tubular phosphate reabsorption, Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate, Tubular phosphate reabsorption low
Body system
Laboratory abnormalityAbnormality of the genitourinary system

15 genes linked to Renal phosphate wasting

Changes in these genes cause rare conditions in which Renal phosphate wasting is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
CYP27B1cytochrome P450 family 27 subfamily B member 1AlwaysIn 1 condition
SLC34A1solute carrier family 34 member 1AlwaysIn 4 conditions
SLC34A3solute carrier family 34 member 3AlwaysIn 1 condition
DMP1dentin matrix acidic phosphoprotein 1Very often (80–99%)In 1 condition
EHHADHenoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenaseVery often (80–99%)In 1 condition
ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1Very often (80–99%)In 1 condition
GATMglycine amidinotransferaseVery often (80–99%)In 1 condition
INPPL1inositol polyphosphate phosphatase like 1Very often (80–99%)In 1 condition
NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6Very often (80–99%)In 1 condition
PHEXphosphate regulating endopeptidase X-linkedVery often (80–99%)In 2 conditions
CTNScystinosin, lysosomal cystine transporterSometimes (5–29%)In 1 condition
GNASGNAS complex locusSometimes (5–29%)In 1 condition
CLCN5Cl-/H+ antiporter 5Not recordedIn 2 conditions
FGF23fibroblast growth factor 23Not recordedIn 1 condition
NHERF1NHERF family PDZ scaffold protein 1Not recordedIn 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Abnormal urine phosphate concentration

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

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