Trait
Low blood phosphate level
Clinical name: Hypophosphatemia
The concentration of phosphate ion in the blood circulation is below the lower limit of normal.
Summary
- Also called
- Decreased phosphate ion concentration, Decreased phosphate ion level, Decreased phosphate ion level in blood, Hypophosphataemia, Reduced phosphate ion concentration, Reduced phosphate ion level, Reduced phosphate ion level in blood
- Body system
- Laboratory abnormality
Reference genomeGRCh38hg38
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Get my Genome Test41 genes linked to Low blood phosphate level
Changes in these genes cause rare conditions in which Low blood phosphate level 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.
| Gene | How often it is seen | Conditions |
|---|---|---|
| CTNScystinosin, lysosomal cystine transporter | Always | In 3 conditions |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Always | In 2 conditions |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Always | In 2 conditions |
| HMGCS23-hydroxy-3-methylglutaryl-CoA synthase 2 | Always | In 1 condition |
| HNF4Ahepatocyte nuclear factor 4 alpha | Always | In 1 condition |
| PHEXphosphate regulating endopeptidase X-linked | Always | In 2 conditions |
| SLC34A1solute carrier family 34 member 1 | Always | In 5 conditions |
| SLC34A3solute carrier family 34 member 3 | Always | In 2 conditions |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Very often (80–99%) | In 1 condition |
| CDC73cell division cycle 73 | Very often (80–99%) | In 3 conditions |
| FGF23fibroblast growth factor 23 | Very often (80–99%) | In 2 conditions |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Very often (80–99%) | In 1 condition |
| GCM2GCM transcription factor 2 | Very often (80–99%) | In 1 condition |
| INPPL1inositol polyphosphate phosphatase like 1 | Very often (80–99%) | In 1 condition |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Very often (80–99%) | In 1 condition |
| MEN1menin 1 | Very often (80–99%) | In 1 condition |
| SLC2A2solute carrier family 2 member 2 | Very often (80–99%) | In 2 conditions |
| VDRvitamin D receptor | Very often (80–99%) | In 2 conditions |
| ANKHANKH inorganic pyrophosphate transport regulator | Often (30–79%) | In 1 condition |
| EHHADHenoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Often (30–79%) | In 1 condition |
| GATMglycine amidinotransferase | Often (30–79%) | In 2 conditions |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Often (30–79%) | In 2 conditions |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Often (30–79%) | In 2 conditions |
| PTH1Rparathyroid hormone 1 receptor | Often (30–79%) | In 2 conditions |
| ALDOBaldolase, fructose-bisphosphate B | Sometimes (5–29%) | In 2 conditions |
| CLCN7Cl-/H+ antiporter 7 | Sometimes (5–29%) | In 1 condition |
| FBXO22F-box protein 22 | Sometimes (5–29%) | In 1 condition |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Sometimes (5–29%) | In 1 condition |
| POLRMTRNA polymerase mitochondrial | Sometimes (5–29%) | In 1 condition |
| SNX10sorting nexin 10 | Sometimes (5–29%) | In 1 condition |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Sometimes (5–29%) | In 1 condition |
| TNFSF11TNF superfamily member 11 | Sometimes (5–29%) | In 1 condition |
| GNASGNAS complex locus | Rarely (1–4%) | In 1 condition |
| AP2S1adaptor related protein complex 2 subunit sigma 1 | Not recorded | In 1 condition |
| CASRcalcium sensing receptor | Not recorded | In 1 condition |
| CLCN5Cl-/H+ antiporter 5 | Not recorded | In 3 conditions |
| COL4A3collagen type IV alpha 3 chain | Not recorded | In 1 condition |
| CYP3A4cytochrome P450 family 3 subfamily A member 4 | Not recorded | In 1 condition |
| DMP1dentin matrix acidic phosphoprotein 1 | Not recorded | In 1 condition |
| FAM20CFAM20C golgi associated secretory pathway kinase | Not recorded | In 1 condition |
Show 1 more gene
| Gene | How often it is seen | Conditions |
|---|---|---|
| NHERF1NHERF family PDZ scaffold protein 1 | Not recorded | In 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.
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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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