AVPR2, arginine vasopressin receptor 2, 554

N. diseases: 134; N. variants: 38
Disease: Congenital Nephrogenic Diabetes Insipidus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE What is New: • We identified eight novel disease-causing variants in AVPR2: p.Arg68Alafs*124, p.Ser171Arg, p.Gln174Pro, p.Trp200Arg, p.Gly201Cys, p.Gly220Arg, p.Val226Glu, and p.Gln291Pro, thereby adding to the growing list of AVPR2 disease-causing variants and emphasizing the importance of genetic testing in CNDI. 29594432 2018
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked recessive or autosomal recessive disorder caused by mutations in either AVPR2 or AQP2. 29996815 2018
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE X-linked recessive congenital nephrogenic diabetes insipidus (NDI) is caused by mutations of the arginine vasopressin type 2 receptor gene (AVPR2). 26974133 2016
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE A novel AVPR2 gene mutation of X-linked congenital nephrogenic diabetes insipidus in an Asian pedigree. 27565746 2016
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE The AVPR2 gene R337X mutation was also a genetic etiology of CNDI patients in the mainland of China. 24622440 2014
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE Congenital nephrogenic diabetes insipidus (NDI) is a rare inherited disorder, mostly caused by AVPR2 mutations. 23950570 2014
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE A retrospective genotype and phenotype analysis of X-linked congenital nephrogenic diabetes insipidus (NDI) was conducted on a nationwide cohort of 25 (24 male, 1 female) Korean children with AVPR2 gene mutations, comparing non-truncating and truncating mutations. 24030030 2014
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2. 23150186 2013
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE Congenital nephrogenic diabetes insipidus (NDI) is a disorder associated with mutations in either the AVPR2 or AQP2 gene, causing the inability of patients to concentrate their pro-urine, which leads to a high risk of dehydration. 22427315 2012
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 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
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 Biomarker disease BEFREE Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus. 19812297 2009
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disease characterized by renal tubular unresponsiveness to the antidiuretic effect of arginine-vasopressin due to the mutations of two molecules, the vasopressin V2 receptor (AVPR2) and the aquasporin-2 water channel. 19449677 2009
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 Biomarker disease CTD_human A selective EP4 PGE2 receptor agonist alleviates disease in a new mouse model of X-linked nephrogenic diabetes insipidus. 19729836 2009
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 Biomarker disease CTD_human V2R mutations and nephrogenic diabetes insipidus. 20374732 2009
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE Three different inheritance patterns have been described, i.e., the X-linked recessive form associated with arginine vasopressin V2 receptor (AVPR2) gene mutations, the autosomal recessive and dominant forms of CNDI associated with mutations in the aquaporin-2 (AQP2) gene encoding the vasopressin-regulated water channel of the renal collecting duct. 19461158 2009
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE About 90% of patients with congenital nephrogenic diabetes insipidus (NDI) have vasopressin type 2 receptor (V2R) gene mutations that are inherited in an X-linked recessive manner. 18323675 2008
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 Biomarker disease BEFREE A mutation was found in the same codon of the gene that results in a loss-of- function of arginine vasopressin receptor 2 (AVPR2) observed in congenital nephrogenic diabetes insipidus. 17115194 2007
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE Molecular genetic study of congenital nephrogenic diabetes insipidus and rescue of mutant vasopressin V2 receptor by chemical chaperones. 17371330 2007
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE Congenital nephrogenic diabetes insipidus presented with bilateral hydronephrosis: genetic analysis of V2R gene mutations. 16502494 2006
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked inherited disorder characterized by the excretion of large volumes of diluted urine and caused by mutations in arginine vasopressin receptor 2 (AVPR2) gene. 17101063 2006
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE There are three inheritance patterns of CNDI: the X-linked recessive form associated with vasopressin V2 receptor gene mutations, and the autosomal recessive and dominant forms associated with aquaporin-2 gene (AQP2) mutations. 16361827 2005
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 Biomarker disease CTD_human Aminoglycoside-mediated rescue of a disease-causing nonsense mutation in the V2 vasopressin receptor gene in vitro and in vivo. 14998935 2004
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE A novel deletion mutation in the arginine vasopressin receptor 2 gene and skewed X chromosome inactivation in a female patient with congenital nephrogenic diabetes insipidus. 15129813 2004
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 Biomarker disease CTD_human Aminoglycoside pretreatment partially restores the function of truncated V(2) vasopressin receptors found in patients with nephrogenic diabetes insipidus. 12414899 2002
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE About 90% of patients with congenital nephrogenic diabetes insipidus are males with the X-linked recessive form of the disease (OMIM 304800) who have mutations in the arginine vasopressin receptor 2 gene (AVPR2), which codes for the vasopressin V2 receptor. 11181969 2001