nephrogenic syndrome of inappropriate antidiuresis
Findings
No curated finding names nephrogenic syndrome of inappropriate antidiuresis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.
Definition from the Mondo Disease Ontology (MONDO:0010356), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating renin concentrationHPOHP:0003351
- 2 of 2 reported patients
- Elevated systolic blood pressureHPOHP:0004421
- 2 of 2 reported patients
- HypernatriuriaHPOHP:0012605
- 2 of 2 reported patients
- HyponatremiaHPOHP:0002902
- 2 of 2 reported patients
- Reduced blood urea nitrogenHPOHP:0031969
- 2 of 2 reported patients
- Decreased serum creatinineHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AVPR2HGNC:897
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Ambry Genetics · X-linked · 2018
- Moderate · Natera · X-linked recessive · 2023
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: nephrogenic syndrome of inappropriate antidiuresis
- Also called
- nephrogenic syndrome of inappropriate antidiuresis, X-linked recessiveNSIAD