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ORPHA:223

Arginine vasopressin resistance

high confidenceDisorder

Also known as: Nephrogenic diabetes insipidus

Publications

4,404

95.3th percentile

Trials

7

Interventional, condition-specific

Researchers

934

Distinct authors in sample

Gene link

AQP2, SLC14A1

Definitive

Readiness

3/6

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.”

3/6 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

    4,404 matched papers (1,817 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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)

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?

4,404

4,404 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

4,404 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).

1,817 in the last 10 years · high confidence · 95.3th percentile (publications denominator)

Phrase hits: 4,404 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

934

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
    Christ-Crain M7 papers · 2026

    Department of Endocrinology, University Hospital and University of Basel, Basel, Switzerland.

    Papers in Europe PMC
  2. 02
    Berbece SI4 papers · 2025

    Faculty of Medicine and Pharmacy, "Dunarea de Jos" University of Galati, 800008 Galati, Romania.

    Papers in Europe PMC
  3. 03
    Gurău G4 papers · 2025

    Faculty of Medicine and Pharmacy, "Dunarea de Jos" University of Galati, 800008 Galati, Romania.

    Papers in Europe PMC
  4. 04
    Matei MN4 papers · 2025

    Faculty of Medicine and Pharmacy, "Dunarea de Jos" University of Galati, 800008 Galati, Romania.

    Papers in Europe PMC
  5. 05
    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
  6. 06
    Wang Y4 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
  7. 07
    Blackman S3 papers · 2025

    Department of Gynecology, CHIREC Hospitals, ULB University, Brussels, Belgium.

    Papers in Europe PMC
  8. 08
    Chen X3 papers · 2025

    Department of Endocrinology and Metabolism, West China Hospital of Sichuan University, Chengdu, Sichuan, China.

    Papers in Europe PMC
  9. 09
    Ciortea DA3 papers · 2025

    Faculty of Medicine and Pharmacy, "Dunarea de Jos" University of Galati, 800008 Galati, Romania.

    Papers in Europe PMC
  10. 10
    Drummond JB3 papers · 2025

    Department of Internal Medicine, School of Medicine, Federal University of Minas Gerais, Belo Horizonte, Brazil.

    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 27 July 2026

7 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89.9th percentile).

high confidence · 89.9th 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

6 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

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 2026-07-26

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"

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" OR "AQP2" OR "SLC14A1"

Recall-expansion terms: AQP2, SLC14A1

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 · 6 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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