ORPHA:30925
Hereditary arginine vasopressin deficiency
Also known as: Hereditary CDI · Hereditary neurogenic diabetes insipidus
Publications
1,646
Trials
10
Interventional, condition-specific
Researchers
945
Distinct authors in sample
Gene link
AVP
Strong
Readiness
5/6
Stages with a signal
Clinical definition (Orphanet)
central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007450
- OMIM:125700
- UMLS:C0342394
- NCIT:C84933
Additional Mondo synonyms (9)
ADH deficiency · AVP deficiency · Arginine vasopressin deficiency · antidiuretic hormone deficiency · diabetes insipidus of pituitary gland · hereditary CDI · hereditary neurogenic diabetes insipidus · pituitary gland diabetes insipidus · vasopressin deficiency
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.
- Gene identifiedPresent
Strong — AVP
- LiteraturePresent
1,646 matched papers (1,130 in last 10 years) Source
- Phenotype characterisedPresent
17 HPO annotations (e.g. Lethargy; Growth delay; Weight loss) Source
- Animal modelPresent
2 genotype models (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPresent
10 matched on ClinicalTrials.gov (7 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 (AVP).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
17
Associated phenotypes · MONDO:0007450
- Lethargy
- Growth delay
- Weight loss
- Fever
- Diarrhea
Showing 5 of 17 — open Monarch for the full list.
Animal models (Monarch / Alliance)
2
Model associations linked to this Mondo ID
- Avptm1Hari/Avp+ [background:] involves: 129S1/Sv * 129X1/SvJ * C57BL/6J·MGI:3843460·Mus musculus
- Avptm1Lja/Avp+ [background:] involves: 129S1/Sv * 129X1/SvJ·MGI:3843462·Mus musculus
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.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
1,646
1,646 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.
1,646 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).
1,130 in the last 10 years · low confidence
Phrase hits: 1,543 · MeSH hits: 0
Who's working on it?
945
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.
- 01Christ-Crain M17 papers · 2026
Department of Endocrinology, Diabetology and Metabolism, University Hospital Basel, Basel, Switzerland. mirjam.christ-crain@usb.ch.
Papers in Europe PMC - 02Atila C13 papers · 2026
Department of Endocrinology, Diabetology and Metabolism, University Hospital Basel, Basel, Switzerland.
Papers in Europe PMC - 03Refardt J10 papers · 2026
Department of Endocrinology, Diabetology and Metabolism, University Hospital Basel, Basel, Switzerland.
Papers in Europe PMC - 04Müller HL5 papers · 2026
Department of Pediatrics and Pediatric Hematology/Oncology, University Children's Hospital, Carl von Ossietzky Universität Oldenburg, Klinikum Oldenburg AöR, Oldenburg, Germany.
Papers in Europe PMC - 05
- 06Urano F5 papers · 2026Papers in Europe PMC
- 07Chifu I4 papers · 2025
Division of Endocrinology and Diabetes, Department of Internal Medicine I, University Hospital, University of Wuerzburg, Wurzburg, Germany.
Papers in Europe PMC - 08Fassnacht M4 papers · 2025
Division of Endocrinology and Diabetes, Department of Internal Medicine I, University Hospital, University of Wuerzburg, Wurzburg, Germany.
Papers in Europe PMC - 09Ferrante E4 papers · 2026
Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Papers in Europe PMC - 10van Santen HM4 papers · 2026
Department of Pediatric Endocrinology, Wilhelmina Children's Hospital, UMC Utrecht, Utrecht, the Netherlands.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
10
interventional trials for this specific condition
10 interventional trials matched this specific condition name; 7 currently recruiting in our sample.
Data as of 11 September 2026 · last trial check 28 July 2026
10 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92.5th percentile).
low confidence · 92.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
10 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07569861·RECRUITING·Copeptin Measurement After Mannitol and Hypertonic Saline for the Diagnosis of Polyuria-polydipsia Syndrome
Not reviewed·Conditions: Arginine Vasopressin Deficiency · Primary Polydipsia·Matched via name phrase
- NCT04789148·RECRUITING·Effects of Intranasal Oxytocin in Patients With Arginine-vasopressin Deficiency
Not reviewed·Conditions: Vasopressin Deficiency·Matched via name phrase
- NCT07361263·RECRUITING·Plasma Oxytocin Response to Oral Estrogens in Healthy Controls and AVP-Deficiency
Not reviewed·Conditions: AVP Deficiency · Diabetes Insipidus·Matched via name phrase
- NCT07568509·RECRUITING·Identifying Oxytocin Deficiency in Pediatric Patients With Pituitary Disease
Not reviewed·Conditions: Arginine Vasopressin Deficiency · Oxytocin Deficiency · Pediatric Disease · Hypopituitarism·Matched via name phrase
- NCT06808516·RECRUITING·Effects of Intranasal Oxytocin on Sexual Well-Being in Patients With Arginine Vasopressin Deficiency and Healthy Controls
Not reviewed·Conditions: Arginine Vasopressin Deficiency · Central Diabetes Insipidus · Oxytocin Deficiency·Matched via name phrase
- NCT06676774·RECRUITING·Effect of Intranasal Oxytocin on Emotion Recognition and Acute Psycho-Social Stress-induced Cortisol Increase in Patients With Central Diabetes Insipidus and Healthy Controls
Not reviewed·Conditions: Arginine Vasopressin Deficiency · Diabetes Insipidus·Matched via name phrase
- NCT06789705·RECRUITING·Plasma Oxytocin Changes in Response to Low-dose MDMA vs. Placebo in Patients With Arginine Vasopressin Deficiency and Healthy Controls
Not reviewed·Conditions: Central Diabetes Insipidus·Matched via name phrase
Observational and natural-history studies
2 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.
None of the matched observational studies is currently listed as recruiting.
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).
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 Hereditary arginine vasopressin deficiency — check Associations / patient organisations on that page.
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.
("Hereditary arginine vasopressin deficiency" OR "Hereditary CDI" OR "Hereditary neurogenic diabetes insipidus" OR "ADH deficiency" OR "AVP deficiency" OR "Arginine vasopressin deficiency" OR "antidiuretic hormone deficiency" OR "diabetes insipidus of pituitary gland" OR "diabetes insipidus of the pituitary gland" OR "pituitary gland diabetes insipidus" OR "vasopressin deficiency") OR ("AVP syndrome" OR "AVP-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary arginine vasopressin deficiency" OR "Hereditary CDI" OR "Hereditary neurogenic diabetes insipidus" OR "ADH deficiency" OR "AVP deficiency" OR "Arginine vasopressin deficiency" OR "antidiuretic hormone deficiency" OR "diabetes insipidus of pituitary gland" OR "diabetes insipidus of the pituitary gland" OR "pituitary gland diabetes insipidus" OR "vasopressin deficiency"
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: 10 interventional · 2 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
- "Arginine vasopressin deficiency" also appears on ORPHA:178029
- Publication count (1646) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T23:26:18.424Z