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Nephrogenic syndrome of inappropriate antidiuresis

Disease ID:673
Name:Nephrogenic syndrome of inappropriate antidiuresis
Associated with:1 target
Inappropriate antidiuretic hormone secretion syndrome
Database Links
OMIM: 300539
Orphanet: ORPHA83449


V2 receptor
Comments:  Activating mutations have been identified in the AVPR2 gene resulting in a syndrome termed "nephrogenic syndrome of inappropriate antidiuresis" (NSIAD), a common cause of familial hyponatremia.
References:  1-3


No ligand related data available for Nephrogenic syndrome of inappropriate antidiuresis


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1. Feldman BJ, Rosenthal SM, Vargas GA, Fenwick RG, Huang EA, Matsuda-Abedini M, Lustig RH, Mathias RS, Portale AA, Miller WL, Gitelman SE. (2005) Nephrogenic syndrome of inappropriate antidiuresis. N Engl J Med, 352: 1884-1890. [PMID:15872203]

2. Gitelman SE, Feldman BJ, Rosenthal SM. (2006) Nephrogenic syndrome of inappropriate antidiuresis: a novel disorder in water balance in pediatric patients. Am J Med, 119: S54-S58. [PMID:16843086]

3. Rosenthal SM, Feldman BJ, Vargas GA, Gitelman SE. (2006) Nephrogenic syndrome of inappropriate antidiuresis (NSIAD): a paradigm for activating mutations causing endocrine dysfunction. Pediatr Endocrinol Rev, 4 Suppl 1: 66-70. [PMID:17261972]