Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
X-linked dominant hypophosphatemic rickets (XLHR) is the most prevalent genetic type of hypophosphatemic rickets and is caused by germ line mutations in the PHEX-gene.
|
23466123 |
2013 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Hypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in the PHEX, FGF23, DMP1, ENPP1, CLCN5, SLC9A3R1, SLC34A1 or SLC34A3.
|
31821448 |
2019 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
It confirms that mutations in PHEX are the most frequent cause of HR.
|
26051471 |
2015 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PHEX mutations have been observed in 60-80% of hypophosphatemic rickets patients.
|
15818436 |
2005 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report 3 cases of hypophosphatemic rickets with genetic mutational analysis of the PHEX gene.
|
21553362 |
2011 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets.
|
27840894 |
2016 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Human disorders of phosphate (Pi) handling and hypophosphatemic rickets have been shown to result from mutations in PHEX, FGF23, and DMP1, presenting as X-linked recessive, autosomal-dominant, and autosomal-recessive patterns, respectively.
|
20137772 |
2010 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The PHEX mutations were detected in 6 familial and 3 sporadic hypophosphatemic rickets/osteomalacia.
|
24836714 |
2014 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Familial Hypophosphatemic Rickets
|
0.500 |
Biomarker
|
disease |
CTD_human |
Mepe, the gene encoding a tumor-secreted protein in oncogenic hypophosphatemic osteomalacia, is expressed in bone.
|
11414762 |
2001 |
Familial Hypophosphatemic Rickets
|
0.500 |
Biomarker
|
disease |
CTD_human |
In hypophosphatemic rickets, there are both inherited and acquired forms, where X-linked dominant hypophosphatemic rickets (XLH) is the most prevalent genetic form and caused by mutations in the phosphate-regulating endopeptidase (PHEX) gene.
|
18775977 |
2008 |
Familial Hypophosphatemic Rickets
|
0.500 |
Biomarker
|
disease |
CTD_human |
Primary cultures of renal epithelial cells from X-linked hypophosphatemic (Hyp) mice express defects in phosphate transport and vitamin D metabolism.
|
3414685 |
1988 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
A review of medical records and mutational analyses of the PHEX and FGF23 genes were performed on 17 unrelated Korean children with HR.
|
16055933 |
2005 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
XLH is caused by inactivating mutations in PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome).
|
18625346 |
2008 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene.
|
18252791 |
2008 |