|
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 |
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 |
Biomarker
|
disease |
HPO |
|
|
|
|
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 |
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 |
Mutations in AVPR2, the gene encoding V2R, lead to the X-linked congenital form of nephrogenic diabetes insipidus (NDI), a disease characterized by the inability to concentrate urine in response to vasopressin; often this involves missense mutations or deletion of one or a few amino acids.
|
17516711 |
2007 |
|
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 |
Biomarker
|
disease |
BEFREE |
Cloning and characterization of a vasopressin V2 receptor and possible link to nephrogenic diabetes insipidus.
|
1534150 |
1992 |
|
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus.
|
16825342 |
2006 |
|
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Association of calnexin with wild type and mutant AVPR2 that causes nephrogenic diabetes insipidus.
|
11389590 |
2001 |
|
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Vasopressin V2 receptor mutants that cause X-linked nephrogenic diabetes insipidus: analysis of expression, processing, and function.
|
8863826 |
1996 |
|
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 |
Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes.
|
18489790 |
2008 |
|
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.
|
9853256 |
1998 |
|
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 |
X-linked nephrogenic diabetes insipidus (NDI) is a rare disease with defective renal and extrarenal arginine vasopressin V2 receptor responses due to mutations in the AVPR2 gene in Xq28.
|
9773787 |
1998 |
|
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A low-affinity vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus.
|
8704106 |
1996 |
|
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 |
Inactivating mutations of the vasopressin V2 receptor gene cause X-linked nephrogenic diabetes insipidus (NDI).
|
10432391 |
1999 |
|
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 |
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 |
Expression studies of two vasopressin V2 receptor gene mutations, R202C and 804insG, in nephrogenic diabetes insipidus.
|
7564126 |
1995 |
|
Nephrogenic Diabetes Insipidus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Identification of the gene encoding the V2 vasopressin (or antidiuretic hormone) receptor enabled researchers to test the hypothesis that mutations of this gene were responsible for X-linked recessive nephrogenic diabetes insipidus.
|
11476731 |
2001 |