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ORPHA:223

Arginine vasopressin resistance

high confidenceDisorder

Also known as: Nephrogenic diabetes insipidus

Publications

11,065

95.1th percentile

Trials

7

Interventional, condition-specific

Researchers

1,086

Distinct authors in sample

Gene link

AQP2, SLC14A1

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic renal tubular disease that is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — AQP2, SLC14A1

  2. LiteraturePresent

    11,065 matched papers (5,632 in last 10 years) Source

  3. Phenotype characterisedPresent

    51 HPO annotations (e.g. Intellectual disability; Megacystis; Feeding difficulties in infancy) Source

  4. Animal modelPresent

    14 genotype models (Mus musculus, Rattus norvegicus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    7 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (AQP2, SLC14A1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

51

Associated phenotypes · MONDO:0016383

  • Intellectual disability
  • Megacystis
  • Feeding difficulties in infancy
  • Diabetes insipidus
  • Hypernatremia

Showing 5 of 51 — open Monarch for the full list.

Animal models (Monarch / Alliance)

14

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

4

Drugs / clinical candidates · MONDO_0016383

CTD chemicals (MyDisease.info)

42 associated chemicals · 146 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Amiloride · therapeutic
  • Bendroflumethiazide · therapeutic
  • Carbamazepine · therapeutic
  • Deamino Arginine Vasopressin · therapeutic
  • Hydrochlorothiazide · therapeutic
  • hydrochlorothiazide-triamterene · therapeutic
  • Indomethacin · therapeutic
  • Ketoprofen · therapeutic
  • Ketorolac · therapeutic
  • ONO-AE1-329 · therapeutic
  • Spironolactone · therapeutic
  • tanespimycin · therapeutic

Pathways: EGFR tyrosine kinase inhibitor resistance; MAPK signaling pathway; ErbB signaling pathway; Ras signaling pathway; Rap1 signaling pathway; Calcium signaling pathway; HIF-1 signaling pathway; Phosphatidylinositol signaling system

MyDisease.info · MONDO:0016383

Literature

Is anyone studying this?

11,065

11,065 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

11,065 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

5,632 in the last 10 years · high confidence · 95.1th percentile (publications denominator)

Phrase hits: 4,404 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,086

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Bichet DG4 papers · 2026

    From the Departments of Medicine and of Pharmacology and Physiology, University of Montreal, and the Nephrology Service, Hôpital du Sacré-Coeur de Montréal - both in Montreal (D.G.B.); and the Department of Pediatric Nephrology, University Hospital Leuven, and the Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium (D.B.).

    Papers in Europe PMC
  2. 02
    Trepiccione F4 papers · 2026

    Department of Medical Translational Sciences, University of Campania "Luigi Vanvitelli," Naples, Italy; and Biology and Molecular Genetics Institute, Biogem, Ariano Irpino, Italy.

    Papers in Europe PMC
  3. 03
    Wang X4 papers · 2026

    Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.

    Papers in Europe PMC
  4. 04
    Christ-Crain M3 papers · 2026

    Department of Endocrinology, Diabetology and Metabolism, University Hospital Basel, Basel 4031, Switzerland.

    Papers in Europe PMC
  5. 05
    Fenton RA3 papers · 2026

    Department of Biomedicine, Aarhus University, Aarhus, Denmark.

    Papers in Europe PMC
  6. 06
    Li Y3 papers · 2026

    National Key Discipline of Human Anatomy, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.

    Papers in Europe PMC
  7. 07
    Park E3 papers · 2026

    Epithelial Systems Biology Laboratory, Systems Biology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  8. 08
    Su Y3 papers · 2026

    Division of Endocrinology, Department of Internal Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.

    Papers in Europe PMC
  9. 09
    Wang Y3 papers · 2025

    Department of Nephrology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center, Hangzhou, China.

    Papers in Europe PMC
  10. 10
    Wu J3 papers · 2026

    Department of Urology, Xiangya Hospital, Central South University, Changsha, Hunan, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

7

interventional trials for this specific condition

7 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

7 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.9th percentile).

high confidence · 90.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

7 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

5 observational studies match 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

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (2)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Arginine vasopressin resistance — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

("Arginine vasopressin resistance" OR "Nephrogenic diabetes insipidus") OR ("AQP2" OR "AQP2 syndrome" OR "AQP2-related" OR "SLC14A1" OR "SLC14A1 syndrome" OR "SLC14A1-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Arginine vasopressin resistance" OR "Nephrogenic diabetes insipidus"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 7 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

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

Ingested 2026-07-26T12:58:02.312Z