Statements (45)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
gptkb:bone
teeth |
| gptkbp:alsoKnownAs |
XLH
X-linked vitamin D-resistant rickets |
| gptkbp:characterizedBy |
gptkb:osteomalacia
gptkb:rickets short stature bone pain dental abscesses low phosphate levels in blood |
| gptkbp:complication |
hearing loss
early osteoarthritis enthesopathy |
| gptkbp:diagnosedBy |
genetic testing
blood tests radiographs |
| gptkbp:firstDescribed |
1937
|
| gptkbp:frequency |
1 in 20,000
|
| gptkbp:gender |
affects both males and females
|
| gptkbp:hasBiomarker |
increased alkaline phosphatase
low serum phosphate elevated FGF23 normal or low calcium |
| https://www.w3.org/2000/01/rdf-schema#label |
X-linked hypophosphatemia
|
| gptkbp:inheritance |
familial
X-linked dominant sporadic cases possible |
| gptkbp:MeSH_ID |
D006965
|
| gptkbp:mutationAssociatedWith |
PHEX gene
|
| gptkbp:OMIM |
307800
|
| gptkbp:onset |
childhood
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
autosomal dominant hypophosphatemic rickets
autosomal recessive hypophosphatemic rickets |
| gptkbp:symptom |
bone deformities
bowed legs waddling gait tooth abscesses |
| gptkbp:treatment |
gptkb:burosumab
active vitamin D analogs phosphate supplements |
| gptkbp:bfsParent |
gptkb:Crysvita
|
| gptkbp:bfsLayer |
8
|