nephrogenic syndrome of inappropriate antidiuresis

Summary
Synonym
  • NSIAD
Definition
A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in the AVPR2 gene on chromosome Xq28.
Super Class
X-linked recessive disease renal tubular transport disease
Disease Ontology
DOID:0112121
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
554 AVPR2 arginine vasopressin receptor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
12000 Avpr2 arginine vasopressin receptor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
25108 Avpr2 arginine vasopressin receptor 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
184471 ntr-2 Nematocin receptor 2
188227 ntr-1 G-protein coupled receptors family 1 profile domain-containing protein;Nematocin receptor 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024