Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel X-linked arginine-vasopressin receptor 2 mutation in nephrogenic diabetes insipidus: Case report and pedigree analysis.
|
31577731 |
2019 |
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A novel AVPR2 missense mutation in an Asian family with inherited nephrogenic diabetes insipidus: A case report.
|
31027113 |
2019 |
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Functional characterization of AVPR2 mutants found in Turkish patients with nephrogenic diabetes insipidus.
|
29117938 |
2018 |
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree.
|
29394883 |
2018 |
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This chapter will first review various forms of DI focusing on central diabetes insipidus (CDI) and nephrogenic diabetes insipidus (NDI ) .
|
28258576 |
2017 |
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
• X-linked nephrogenic diabetes insipidus is caused by AVPR2 mutations, and disease severity can vary depending on the functional effect of the mutation.
|
26795631 |
2016 |
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Novel large deletion in AVPR2 gene causing copy number variation in a patient with X-linked nephrogenic diabetes insipidus.
|
26828532 |
2016 |
Nephrogenic Diabetes Insipidus
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel large deletion in AVPR2 gene causing copy number variation in a patient with X-linked nephrogenic diabetes insipidus.
|
26828532 |
2016 |
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
• In most cases (90 %), inherited nephrogenic diabetes insipidus (NDI) is an X-linked disease, caused by mutations in the AVPR2 gene.
|
25902753 |
2015 |
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Based on the presentation of the proband and other reported patients with whole gene deletions, we provide further evidence that L1CAM whole gene deletions result in L1 syndrome with a severe phenotype, deletions of PDZD4 do not cause additional manifestations, and that X-linked nephrogenic diabetes insipidus reported in a subset of patients with large L1CAM deletions results from the loss of AVPR2.
|
24668863 |
2014 |
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A large deletion of the AVPR2 gene causing severe nephrogenic diabetes insipidus in a Turkish family.
|
24026507 |
2014 |
Nephrogenic Diabetes Insipidus
|
0.900 |
Biomarker
|
disease |
BEFREE |
Familial form of nephrogenic diabetes insipidus (NDI) is a rare hereditary disease caused by arginine vasopressin type 2 receptor (AVPR2) or water channel aquaporin 2 (AQP2) gene mutations.
|
23150186 |
2013 |
Nephrogenic Diabetes Insipidus
|
0.900 |
Biomarker
|
disease |
BEFREE |
Investigations into primary inherited nephrogenic diabetes insipidus (NDI) have contributed enormously to our understanding of the mechanisms of urinary concentration and identified the vasopressin receptor AVPR2, as well as the water channel aquaporin-2 (AQP2), as key players in water reabsorption in the collecting duct.
|
23364801 |
2013 |
Nephrogenic Diabetes Insipidus
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Disrupted function or regulation of AQP2 or the AVPR2 results in nephrogenic diabetes insipidus (NDI), a common clinical condition of renal origin characterized by polydipsia and polyuria.
|
23360744 |
2013 |
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
X-linked nephrogenic diabetes insipidus (NDI) is a rare polyuric disorder caused by inactivating mutations in the arginine vasopressin receptor Type 2 (AVPR2) gene.
|
21917732 |
2012 |
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Two new large deletions of the AVPR2 gene causing nephrogenic diabetes insipidus and a review of previously published deletions.
|
22879391 |
2012 |
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
X-linked nephrogenic diabetes insipidus (NDI) is a rare disease characterized by a malfunctioning renal response to the antidiuretic hormone arginine vasopressin (AVP) due to mutations in the AVPR2 gene.
|
22386940 |
2012 |
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Characterization of the genetic defect causing X-linked nephrogenic diabetes insipidus (NDI) and intellectual disability in two dizygotic twin brothers revealed a novel contiguous deletion of 17,905 bp encompassing the entire AVPR2 gene and extending into intron 7 of the ARHGAP4 gene.
|
22965914 |
2012 |
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to identify mutations in three different genes, the arginine-vasopressin-neurophysin II (AVP-NPII) gene, the arginine-vasopressin receptor 2 (AVPR2) gene, and the vasopressin-sensitive water channel aquaporin-2 (AQP2) gene in Turkish patients affected by central diabetes insipidus or nephrogenic diabetes insipidus.
|
22644838 |
2012 |
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A novel AVPR2 missense mutation in a Chinese boy with severe inherited nephrogenic diabetes insipidus.
|
22145481 |
2011 |
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the type 2 vasopressin receptor gene (AVPR2) underlie X-linked recessive nephrogenic diabetes insipidus (NDI).
|
19816050 |
2010 |
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
AVPR2 mutations cause most cases of nephrogenic diabetes insipidus (NDI); 211 AVPR2 mutations have been described, but only 7 are described causing partial NDI.
|
20389105 |
2010 |
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A novel missense mutation in the AVPR2 gene of a Japanese infant with nephrogenic diabetes insipidus.
|
20583549 |
2010 |
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Potential of nonpeptide (ant)agonists to rescue vasopressin V2 receptor mutants for the treatment of X-linked nephrogenic diabetes insipidus.
|
20163515 |
2010 |
Nephrogenic Diabetes Insipidus
|
0.900 |
Biomarker
|
disease |
CTD_human |
A novel mutation in the AVPR2 gene (222delA) associated with X-linked nephrogenic diabetes insipidus in a boy with growth failure.
|
19703807 |
2010 |