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X-linked dominant hypophosphatemic rickets
Summary
- Synonym
-
- Hypophosphatemia, Vitamin D-Resistant Rickets
- Vitamin D-Resistant Rickets, X-Linked
- X-linked hypophosphatemia
- hypophosphatemic rickets X-linked dominant
- Definition
- A rickets has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.
- Super Class
- X-linked dominant disease rickets
External Links
- Disease Ontology
- DOID:0050445
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1591 | CYP24A1 | cytochrome P450 family 24 subfamily A member 1 | |
| 1594 | CYP27B1 | cytochrome P450 family 27 subfamily B member 1 | |
| 3897 | L1CAM | L1 cell adhesion molecule | |
| 5167 | ENPP1 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | |
| 6514 | SLC2A2 | solute carrier family 2 member 2 | |
| 9365 | KL | klotho | |
| 653509 | SFTPA1 | surfactant protein A1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11168 | Solute carrier family 2, facilitated glucose transporter member 2 | |
| P22413 | Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 | |
| P32004 | Neural cell adhesion molecule L1 | |
| Q8IWL2 | Pulmonary surfactant-associated protein A1 | |
| Q9UEF7 | Klotho |
