Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
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 |
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 |
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 |
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 |
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 |
PHEX mutations have been observed in 60-80% of hypophosphatemic rickets patients.
|
15818436 |
2005 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PHEX mutations have been observed in XLH patients, and we have undertaken studies to characterize such mutations in 46 unrelated XLH kindreds and 22 unrelated patients with nonfamilial XLH by single stranded conformational polymorphism and DNA sequence analysis.
|
9768674 |
1998 |
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 |
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 |
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 |
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 |
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 |
Hence, PHEX c.*231A > G can masquerade as sporadic or X-linked recessive HR.
|
25042154 |
2015 |
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 |
Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets.
|
10737991 |
2000 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
It confirms that mutations in PHEX are the most frequent cause of HR.
|
26051471 |
2015 |
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 |
GeneticVariation
|
disease |
BEFREE |
Mutational analysis of the PHEX gene in 15 unrelated Korean patients with hypophosphatemic rickets revealed eight mutations, including five novel mutations, in nine patients: two nonsense mutations, two missense mutations, one insertion, and three splicing acceptor/donor site mutations.
|
18162710 |
2007 |
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 |
Familial Hypophosphatemic Rickets
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel PHEX mutation associated with hypophosphatemic rickets.
|
17406123 |
2007 |
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 |