|
Hypophosphatemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
PHEX mutations cause hypophosphatemia indirectly, through the increased expression of fibroblast growth factor 23 (FGF23) by osteocytes.
|
31392510 |
2019 |
|
Hypophosphatemia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
PHEX deficiency leads to renal phosphate wasting and hypophosphatemia, as well as impaired mineralization of bone and dentin, resulting in severe skeletal and dental complications.
|
29745817 |
2018 |
|
Hypophosphatemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
In X-linked hypophosphatemia (XLH), inherited loss-of-function mutations in the PHEX gene cause excess circulating levels of fibroblast growth factor 23 (FGF23), leading to lifelong renal phosphate wasting and hypophosphatemia.
|
29947083 |
2018 |
|
Hypophosphatemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Similarly, elevated FGF23, caused by mutations in the PHEX gene, is responsible for the hypophosphatemia in X-linked hypophosphatemic rickets (XLH).
|
28005411 |
2017 |
|
Hypophosphatemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Inactivation or mutation of the gene PHEX, a phosphate-regulating endopeptidase, leads to hypophosphatemia and defective bone mineralization in XLH patients.
|
27126636 |
2016 |
|
Hypophosphatemia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
PHEX has been identified as the gene defective in this phosphate wasting disorder leading to decreased renal phosphate reabsorption, hypophosphatemia and inappropriate concentrations of 1,25-dihydroxyvitamin D in regard to hypophosphatemia.
|
21553362 |
2011 |
|
Hypophosphatemia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
The combined disruption corrected the hypophosphatemia in HYP mice, indicating that Klotho is epistatic to PHEX.
|
19952276 |
2010 |
|
Hypophosphatemia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
X-Linked hypophosphatemic rickets (HYP, XLH) is a disorder of phosphate homeostasis, characterized by renal phosphate wasting and hypophosphatemia, with normal to low 1,25-dihydroxy vitamin D3 serum levels.
|
19513579 |
2009 |
|
Hypophosphatemia
|
0.200 |
AlteredExpression
|
phenotype |
LHGDN |
Overexpression of human PHEX under the human beta-actin promoter does not fully rescue the Hyp mouse phenotype.
|
15940367 |
2005 |
|
Hypophosphatemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
In contrast, TIO likely evolves secondary to tumor overproduction of the putative phosphatonin, which exerts physiologic function despite efforts to counteract the resultant hypophosphatemia with overproduction of PHEX transcripts that are insufficient to accommodate the enhanced substrate load.
|
10620182 |
2000 |
|
Hypophosphatemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We did not find PHEX gene mutations in two additional hypophosphatemia families in which the mode of inheritance was other than X-linked dominant.
|
10737991 |
2000 |
|
Hypophosphatemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Two mouse mutations gyro (Gy) and hypophosphatemia (Hyp) are mouse models for X-linked hypophosphatemic rickets and have been shown to be deleted for the 5' and 3' end of the mouse homolog of PHEX (phosphate regulating gene with homologies to endopeptidases on the X chromosome; formerly called PEX), respectively.
|
9467015 |
1998 |
|
Hypophosphatemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
In summary, the Gy mutation is associated with a recessively expressed mutation of the spermine synthase gene, leading to spermine deficiency, and a dominantly expressed mutation of the Pex gene, leading to hypophosphatemia.
|
9545633 |
1998 |
|
Hypophosphatemia
|
0.200 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Hypophosphatemia
|
0.200 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|