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nephrogenic syndrome of inappropriate antidiuresis (NSIAD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephrogenic syndrome of inappropriate antidiuresis

MONDO:0010356

Also known as:NSIADnephrogenic syndrome of inappropriate antidiuresis, X-linked recessive

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Overview

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.

GeneticsX-linked · AVPR2 (chr X)

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (4 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Elevated systolic blood pressure, Reduced blood urea nitrogen, Decreased circulating renin concentration, and Hyponatremia and others; and common findings: Hyposthenuria, Decreased serum creatinine, Generalized-onset seizure, and Irritability. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Generalized-onset seizure, Irritability

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

AVPR2 encodes arginine vasopressin receptor 2 (371 aa). G-protein-coupled receptor for arginine vasopressin, an antidiuretic that promotes renal water reabsorption. Highest expression in Adipose Subcutaneous (14.3 TPM) and Kidney Medulla (10.8 TPM).

Nephrogenic syndrome of inappropriate antidiuresis is associated with mutations in the AVPR2 gene on chromosome X.

The AVPR2 protein participates in AVPR2 bind desmopressin, Defective AVP mutants do not bind AVPR2, and AVPR1A,2 bind AVPR antagonists pathways.

AVPR2 is classified as a druggable target (Druggable Genome and G Protein Coupled Receptor categories) with score 4.7.

Diagnosis

Genetic testing for AVPR2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

4 publications have been identified in PubMed for nephrogenic syndrome of inappropriate antidiuresis. Research spans Basic Science / Preclinical (100%).

Recent Publications

Ikeda M (2026). [PMID: 41530545](https://pubmed.ncbi.nlm.nih.gov/41530545/). *Journal of human genetics*. [Basic Science / Preclinical]
Szymanik-Grzelak H (2025). [PMID: 41177862](https://pubmed.ncbi.nlm.nih.gov/41177862/). *Journal of applied genetics*. [Basic Science / Preclinical]
Carcavilla A (2025). [PMID: 40172207](https://pubmed.ncbi.nlm.nih.gov/40172207/). *European journal of endocrinology*. [Basic Science / Preclinical]
Venneri M (2024). [PMID: 36823952](https://pubmed.ncbi.nlm.nih.gov/36823952/). *The Journal of physiology*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 9:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300539

Orphanet

European rare disease database

Orphanet:93606

GARD

Genetic and Rare Diseases Info Center

GARD:10306

Questions for Your Care Team

→Should female family members consider carrier screening for AVPR2?
→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

nephrogenic syndrome of inappropriate antidiuresis

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Bone microarchitecture assessed by HR-pQCT in syndrome of inappropriate secretion of thyrotropin with thyrotoxicosis.

nephrogenic syndrome of inappropriate antidiuresis

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Bone microarchitecture assessed by HR-pQCT in syndrome of inappropriate secretion of thyrotropin with thyrotoxicosis.