AVPR2, arginine vasopressin receptor 2, 554

N. diseases: 134; N. variants: 38
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020625
Disease: Hyponatremia
Hyponatremia
0.180 Biomarker phenotype BEFREE For refractory ascites, vasoconstrictors and albumin are recommended for splanchnic vasodilation and selective vasopressin (V2) receptor antagonists for moderate-to-severe hyponatremia. 30656520 2019
CUI: C0020625
Disease: Hyponatremia
Hyponatremia
0.180 GeneticVariation phenotype BEFREE Assess characteristics of patients with heart failure (HF) and hyponatremia (HN) using tolvaptan, a selective vasopressin V2-receptor antagonist, for sodium correction, and estimate the budget impact of tolvaptan use in a hospital. 29297709 2018
CUI: C0020625
Disease: Hyponatremia
Hyponatremia
0.180 Biomarker phenotype BEFREE Tolvaptan is a selective vasopressin V2 receptor antagonist, approved in several countries for the treatment of hyponatremia and autosomal dominant polycystic kidney disease (ADPKD). 27655350 2017
CUI: C0020625
Disease: Hyponatremia
Hyponatremia
0.180 GeneticVariation phenotype BEFREE A female infant with massive renal enlargement, respiratory compromise and hyponatraemia was treated with the arginine vasopressin receptor 2 antagonist tolvaptan. 28194574 2017
CUI: C0020625
Disease: Hyponatremia
Hyponatremia
0.180 AlteredExpression phenotype BEFREE Clinical and biochemical investigation of hyponatraemia; a formal water load test with measurement of arginine vasopressin levels (AVP); sequencing of AVPR2; and computed structural modelling of the wild-type and constitutively activated mutant receptors. 26715131 2016
CUI: C0020625
Disease: Hyponatremia
Hyponatremia
0.180 Biomarker phenotype BEFREE Our results indicate that NSIAD is already present during the neonatal period and that molecular analysis of the V2R receptor should therefore be carried out, in all newborns with prolonged euvolemic hyponatremia with hypo-osmolarity, high urinary sodium and normal/low or undetectable AVP levels. 18622631 2008
CUI: C0020625
Disease: Hyponatremia
Hyponatremia
0.180 GeneticVariation phenotype BEFREE The description of a family comprising several adults with intermittent or water load induced-hyponatraemia associated with an activating mutation in the arginine vasopressin (AVP) receptor type 2 (AVPR2) raised the question of whether our patient could have a similar 'nephrogenic syndrome of inappropriate antidiuresis'. 18753429 2008
CUI: C0020625
Disease: Hyponatremia
Hyponatremia
0.180 Biomarker phenotype BEFREE The proband was a 74-yr-old patient who had a syndrome of inappropriate antidiuresis and whose hyponatremia resisted administration of two AVPR2 antagonists. 17229917 2007
CUI: C0020625
Disease: Hyponatremia
Hyponatremia
0.180 Biomarker phenotype HPO