Trait
Weak and soft bones
Clinical name: Rickets
Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.
Summary
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test30 genes linked to Weak and soft bones
Changes in these genes cause rare conditions in which Weak and soft 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 |
|---|---|---|
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Always | In 2 conditions |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Always | In 2 conditions |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Always | In 1 condition |
| HNF4Ahepatocyte nuclear factor 4 alpha | Always | In 1 condition |
| NEUROG3neurogenin 3 | Always | In 1 condition |
| PHEXphosphate regulating endopeptidase X-linked | Always | In 2 conditions |
| SLC34A1solute carrier family 34 member 1 | Always | In 1 condition |
| VDRvitamin D receptor | Always | In 1 condition |
| CTNScystinosin, lysosomal cystine transporter | Very often (80–99%) | In 3 conditions |
| RNU4ATACRNA, U4atac small nuclear | Very often (80–99%) | In 1 condition |
| ATP7AATPase copper transporting alpha | Often (30–79%) | In 1 condition |
| ATP8B1ATPase phospholipid transporting 8B1 | Often (30–79%) | In 1 condition |
| FGF23fibroblast growth factor 23 | Often (30–79%) | In 2 conditions |
| HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Often (30–79%) | In 1 condition |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Often (30–79%) | In 1 condition |
| SLC2A2solute carrier family 2 member 2 | Often (30–79%) | In 2 conditions |
| AKR1D1aldo-keto reductase family 1 member D1 | Sometimes (5–29%) | In 1 condition |
| ATP6V0A4ATPase H+ transporting V0 subunit a4 | Sometimes (5–29%) | In 1 condition |
| BAATbile acid-CoA:amino acid N-acyltransferase | Sometimes (5–29%) | In 1 condition |
| CLDN16claudin 16 | Sometimes (5–29%) | In 1 condition |
| ALPLalkaline phosphatase, biomineralization associated | Not recorded | In 1 condition |
| CLCN5Cl-/H+ antiporter 5 | Not recorded | In 2 conditions |
| DMP1dentin matrix acidic phosphoprotein 1 | Not recorded | In 1 condition |
| EHHADHenoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Not recorded | In 1 condition |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Not recorded | In 1 condition |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Not recorded | In 1 condition |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Not recorded | In 1 condition |
| SLC34A3solute carrier family 34 member 3 | Not recorded | In 1 condition |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Not recorded | In 1 condition |
| TJP2tight junction protein 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.
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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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