ORPHA:93606
Nephrogenic syndrome of inappropriate antidiuresis
Also known as: NSIAD
Publications
264
75.3th percentile
Trials
0
Interventional, condition-specific
Researchers
922
Distinct authors in sample
Gene link
AVPR2
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
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.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010356
- MeSH:C564491
- OMIM:300539
- UMLS:C1845202
Additional Mondo synonyms (2)
nephrogenic syndrome of inappropriate antidiuresis · nephrogenic syndrome of inappropriate antidiuresis, X-linked recessive
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — AVPR2
- LiteraturePresent
264 matched papers (162 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (AVPR2).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
264
264 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
264 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
162 in the last 10 years · medium confidence · 75.3th percentile (publications denominator)
Phrase hits: 264 · MeSH hits: 4
Who's working on it?
922
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Decaux G7 papers · 2023
General Internal Medicine, University Hospital Erasme, Brussels, Belgium. guy.decaux@skynet.be
Papers in Europe PMC - 02Mouillac B7 papers · 2024
Institut de Génomique Fonctionnelle, Université de Montpellier, CNRS, INSERM, 34094 Montpellier, France.
Papers in Europe PMC - 03
- 04Feldman BJ6 papers · 2013
Department of Pediatrics, Division of Endocrinology, University of California at San Francisco, San Francisco, CA 94143, USA.
Papers in Europe PMC - 05Kim GH6 papers · 2024
Institute of Biomedical Sciences, Hanyang University College of Medicine, Seoul, Korea; Division of Nephrology, Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea kimgh@hanyang.ac.kr.
Papers in Europe PMC - 06Ranieri M6 papers · 2024
Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70125 Bari, Italy.
Papers in Europe PMC - 07Tamma G6 papers · 2024
Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70125 Bari, Italy.
Papers in Europe PMC - 08Valenti G6 papers · 2024
Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70125 Bari, Italy.
Papers in Europe PMC - 09Bockenhauer D5 papers · 2021
Institute of Child Health, University College London and Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom. d.bockenhauer@ucl.ac.uk
Papers in Europe PMC - 10Di Mise A5 papers · 2024
Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70125 Bari, Italy.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT06065852·RECRUITING·National Registry of Rare Kidney Diseases
Conditions: Adenine Phosphoribosyltransferase Deficiency · AH Amyloidosis · AHL Amyloidosis · AL Amyloidosis·Matched via name + MeSH
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Nephrogenic syndrome of inappropriate antidiuresis" OR "Nephrogenic syndrome of the inappropriate antidiuresis" OR "NSIAD" OR "nephrogenic syndrome of inappropriate antidiuresis, X-linked recessive" OR "nephrogenic syndrome of the inappropriate antidiuresis, X-linked recessive"
MeSH descriptor terms unioned into the query: Nephrogenic Syndrome of Inappropriate Antidiuresis
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Nephrogenic syndrome of inappropriate antidiuresis" OR "Nephrogenic syndrome of the inappropriate antidiuresis" OR "NSIAD" OR "nephrogenic syndrome of inappropriate antidiuresis, X-linked recessive" OR "nephrogenic syndrome of the inappropriate antidiuresis, X-linked recessive" OR "AVPR2"
Recall-expansion terms: AVPR2
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (264) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T04:28:03.387Z