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ORPHA:178029

Arginine vasopressin deficiency

medium confidenceDisorder

Also known as: CDI · Neurogenic diabetes insipidus

Publications

577

82.2th percentile

Trials

9

Interventional, condition-specific

Researchers

1,018

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired ( CDI and acquired CDI).

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

neurogenic diabetes insipidus

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.”

4/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    577 matched papers (453 in last 10 years) Source

  3. Phenotype characterisedPresent

    38 HPO annotations (e.g. Nocturia; Depression; Anxiety) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    9 matched on ClinicalTrials.gov (6 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

38

Associated phenotypes · MONDO:0015790

  • Nocturia
  • Depression
  • Anxiety
  • Diabetes insipidus
  • Failure to thrive

Showing 5 of 38 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

2 associated chemicals · 28 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Carbamazepine · therapeutic
  • Deamino Arginine Vasopressin · therapeutic

Pathways: Phospholipase D signaling pathway; Vasopressin-regulated water reabsorption; BMAL1:CLOCK,NPAS2 activates circadian gene expression; Signal Transduction; Disease; Membrane Trafficking; Signaling by GPCR; Class A/1 (Rhodopsin-like receptors)

MyDisease.info · MONDO:0015790

Literature

Is anyone studying this?

577

577 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=3967) is 59.

577 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).

453 in the last 10 years · medium confidence · 82.2th percentile (publications denominator)

Phrase hits: 577 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,018

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 M15 papers · 2026

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

    Papers in Europe PMC
  2. 02
    Atila C11 papers · 2026

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

    Papers in Europe PMC
  3. 03
    Refardt J9 papers · 2026

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

    Papers in Europe PMC
  4. 04
    Müller HL5 papers · 2026

    Department of Pediatrics and Pediatric Hematology/Oncology, University Children's Hospital, Carl von Ossietzky Universität Oldenburg, Klinikum Oldenburg AöR, 26133 Oldenburg, Germany.

    Papers in Europe PMC
  5. 05
    Pala A5 papers · 2026

    Department of Neurosurgery, Ulm University, Ulm, Germany.

    Papers in Europe PMC
  6. 06
    Urano F5 papers · 2026
    Papers in Europe PMC
  7. 07
    Winzeler B5 papers · 2025

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

    Papers in Europe PMC
  8. 08
    Zada G5 papers · 2026

    Department of Neurosurgery, University of Southern California, Los Angeles, CA 90033, USA.

    Papers in Europe PMC
  9. 09
    Chifu I4 papers · 2025

    Division of Endocrinology and Diabetes, Department of Internal Medicine I, University Hospital, University of Wuerzburg, Wurzburg, Germany.

    Papers in Europe PMC
  10. 10
    Drummond JB4 papers · 2025

    Department of Internal Medicine, Medical School of the Federal University of Minas Gerais, 31270-901 Belo Horizonte, MG, Brazil.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

9

interventional trials for this specific condition

9 interventional trials matched this specific condition name; 6 currently recruiting in our sample.

Data as of 11 September 2026

9 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92th percentile).

medium confidence · 92th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-30

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 (1)

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 deficiency — 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 deficiency" OR "Neurogenic 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 deficiency" OR "Neurogenic 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: 9 interventional · 0 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

Synonyms dropped by stoplist: CDI

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • "Arginine vasopressin deficiency" also appears on ORPHA:30925

Ingested 2026-07-27T08:46:28.195Z