Trait
Softening of the bones
Clinical name: Osteomalacia
Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.
Summary
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Softening of the bones, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test26 genes linked to Softening of the bones
Changes in these genes cause rare conditions in which Softening of the bones 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 |
|---|---|---|
| SKOR2SKI family transcriptional corepressor 2 | Always | In 1 condition |
| SLC34A1solute carrier family 34 member 1 | Always | In 3 conditions |
| ANTXR2ANTXR cell adhesion molecule 2 | Very often (80–99%) | In 1 condition |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Very often (80–99%) | In 1 condition |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Very often (80–99%) | In 1 condition |
| DMP1dentin matrix acidic phosphoprotein 1 | Very often (80–99%) | In 1 condition |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Very often (80–99%) | In 2 conditions |
| RNU4ATACRNA, U4atac small nuclear | Very often (80–99%) | In 1 condition |
| VDRvitamin D receptor | Very often (80–99%) | In 1 condition |
| ABCC6ATP binding cassette subfamily C member 6 | Often (30–79%) | In 1 condition |
| ATP7AATPase copper transporting alpha | Often (30–79%) | In 1 condition |
| EHHADHenoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Often (30–79%) | In 1 condition |
| FGF23fibroblast growth factor 23 | Often (30–79%) | In 2 conditions |
| GATMglycine amidinotransferase | Often (30–79%) | In 2 conditions |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Often (30–79%) | In 1 condition |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Often (30–79%) | In 2 conditions |
| SLC34A3solute carrier family 34 member 3 | Often (30–79%) | In 1 condition |
| GNASGNAS complex locus | Sometimes (5–29%) | In 1 condition |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Sometimes (5–29%) | In 1 condition |
| SYKspleen associated tyrosine kinase | Sometimes (5–29%) | In 1 condition |
| ALPLalkaline phosphatase, biomineralization associated | Not recorded | In 1 condition |
| AP2S1adaptor related protein complex 2 subunit sigma 1 | Not recorded | In 1 condition |
| ATP7BATPase copper transporting beta | Not recorded | In 1 condition |
| CLCN5Cl-/H+ antiporter 5 | Not recorded | In 2 conditions |
| PHEXphosphate regulating endopeptidase X-linked | Not recorded | In 1 condition |
| SLC2A2solute carrier family 2 member 2 | 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.
Broader traits
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.
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks