Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The most common heritable disorder of renal phosphate wasting, X-linked hypophosphataemia (XLH), was discovered to be caused by inactivating mutations in the phosphate regulating gene with homology to endopeptidases on the X-chromosome (PHEX) gene in 1995.
|
30207609 |
2019 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Hypophosphatemic rickets is caused by renal phosphate wasting that is most commonly due to X-linked dominant mutations in PHEX.
|
31392510 |
2019 |
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 |
Analysis of 2 novel mutations of PHEX gene inducing X-linked dominant hypophosphatemia rickets in 2 families: Two case reports.
|
30075510 |
2018 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
XLH is associated with a large number of private mutations; 37 different mutations in the PHEX gene were identified in this cohort, 14 of which have not been previously reported.
|
29460029 |
2018 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Among these diseases, X-linked hypophosphatemia (XLH), which is caused by inactivating mutations in the phosphate-regulating endopeptidase homolog, X-linked (PHEX) gene, is the most prevalent form of genetic FGF23-related hypophosphatemic rickets.
|
29381780 |
2018 |
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 PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3.
|
28383812 |
2017 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A de novo mosaic mutation of PHEX in a boy with hypophosphatemic rickets.
|
26559751 |
2016 |
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 |
Hence, PHEX c.*231A > G can masquerade as sporadic or X-linked recessive HR.
|
25042154 |
2015 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We investigated PHEX mutation in a sporadic Turkish girl with hypophosphatemic rickets.
|
25153221 |
2015 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets.
|
25839938 |
2015 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
WES revealed a novel PHEX splice acceptor mutation in intron 9 (c.1080-3C>A) in a family with 3 affected individuals with HR.
|
26107949 |
2015 |
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 |
The PHEX mutations were detected in 6 familial and 3 sporadic hypophosphatemic rickets/osteomalacia.
|
24836714 |
2014 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The study shows that PHEX mutation is a common cause of either familial or sporadic hypophosphatemic rickets in Turkish population.Gene dosage effect is not observed.
|
23079138 |
2013 |
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 |
This leads to the question whether current screening methods for mutations in the PHEX gene are inadequate or whether there is a substantial number of patients with other genetic causes of hypophosphatemic rickets.
|
22577109 |
2012 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These data extend the spectrum of mutations in the PHEX gene in Han Chinese and confirm variability for XLH in Taiwan.
|
21293852 |
2011 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our data highlight the wide spectrum of genetic variation that can be seen in PHEX, FGF23 and DMP1 when screening a large cohort with hypophosphatemic rickets.
|
21050253 |
2011 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The most common form of HR is X-linked dominant HR (XLHR) which is caused by inactivating mutations in the PHEX gene.
|
21902834 |
2011 |
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 |
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 |
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 |
BEFREE |
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 |