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Hereditary 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.
Features include very common findings: Diabetes insipidus and Polydipsia; and common findings: Irritability, Lethargy, Growth delay, and Weight loss and others. 17 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 2 | Decreased circulating osteocalcin level, Mild bone density loss (osteopenia) |
Brain and nerves | 2 | Scarring in the brain (gliosis), Irritability |
Hormones | 2 | Central diabetes insipidus, Diabetes insipidus |
Growth and development | 2 | Growth delay, Weight loss |
Digestive system | 2 | Vomiting, Diarrhea |
Lab test results | 1 | Decreased circulating osteocalcin level |
Metabolism | 1 | Fever |
AVP encodes arginine vasopressin (164 aa). Has a direct antidiuretic action on the kidney, it also causes vasoconstriction of the peripheral vessels. Acts by binding to vasopressin receptors (V1bR/AVPR1B, V1aR/AVPR1A, and V2R/AVPR2) Highest expression in Brain Hypothalamus (378.9 TPM) and Testis (3.3 TPM).
Neurohypophyseal diabetes insipidus is associated with mutations in the AVP gene on chromosome 20.
The AVP protein participates in Expression of AVP pathway.
AVP is classified as a druggable target (Druggable Genome and Protease Inhibitor categories) with score 0.0.
Genetic testing for AVP is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for neurohypophyseal diabetes insipidus has been reported in the published literature.
Phenotype severity distribution: 2 very common features, 7 common features.
Estimated prevalence: Unknown (Unknown prevalence).
11 clinical trials registered, 8 recruiting. Interventions under study include drug therapy, other interventions, and procedural interventions. Pipeline includes 2 PHASE2, 1 PHASE1, 2 EARLY_PHASE1. Research is primarily sponsored by academic and government institutions.
NCT ID | Title | Phase | Sponsor | Status |
|---|---|---|---|---|
[NCT06676774](https://clinicaltrials.gov/study/NCT06676774) | Effect of Intranasal Oxytocin on Emotion Recognition and Acute Psycho-Social Stress-induced Cortisol Increase in Patients With Central Diabetes Insipidus and Healthy Controls | PHASE2 | University Hospital, Basel, Switzerland | RECRUITING |
[NCT06789705](https://clinicaltrials.gov/study/NCT06789705) | Plasma Oxytocin Changes in Response to Low-dose MDMA vs. Placebo in Patients With Arginine Vasopressin Deficiency and Healthy Controls | NA | University Hospital, Basel, Switzerland | RECRUITING |
[NCT06742060](https://clinicaltrials.gov/study/NCT06742060) | The Trend of Copeptin Levels and Its Clinical Value for Postoperative CDI in Pediatric Patients After NSI in ICU | — | Children's Hospital of Fudan University | RECRUITING |
[NCT04789148](https://clinicaltrials.gov/study/NCT04789148) | Effects of Intranasal Oxytocin in Patients With Arginine-vasopressin Deficiency | PHASE1 | Elizabeth Austen Lawson | RECRUITING |
[NCT06808516](https://clinicaltrials.gov/study/NCT06808516) | Effects of Intranasal Oxytocin on Sexual Well-Being in Patients With Arginine Vasopressin Deficiency and Healthy Controls | PHASE2 | University Hospital, Basel, Switzerland | RECRUITING |
176 publications have been identified in PubMed for neurohypophyseal diabetes insipidus. Research spans Case Report / Case Series (30%), Review / Meta-Analysis (19%), and Clinical Trial Publication (16%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 52 | 30% |
Research summaries | 34 | 19% |
Clinical study results | 29 | 16% |
Disease patterns and progression | 21 | 12% |
Testing and diagnosis research | 20 | 11% |
Laboratory research | 17 |
Gippert S (2026). [PMID: 39293420](https://pubmed.ncbi.nlm.nih.gov/39293420/). *Horm Res Paediatr*. [Clinical Trial Publication]
Park SS (2026). [PMID: 41603925](https://pubmed.ncbi.nlm.nih.gov/41603925/). *Osteoporos Int*. [Epidemiology / Natural History]
Tuli G (2026). [PMID: 41984305](https://pubmed.ncbi.nlm.nih.gov/41984305/). *Pituitary*. [Clinical Trial Publication]
Nikaj A (2026). [PMID: 42041101](https://pubmed.ncbi.nlm.nih.gov/42041101/). *Endocr Connect*. [Basic Science / Preclinical]
Napper R (2026). [PMID: 41667271](https://pubmed.ncbi.nlm.nih.gov/41667271/). *Archives of disease in childhood*. [Basic Science / Preclinical]
Caputo C (2026). [PMID: 42051284](https://pubmed.ncbi.nlm.nih.gov/42051284/). *JCEM Case Rep*. [Case Report / Case Series]
Iglesias P (2026). [PMID: 42123046](https://pubmed.ncbi.nlm.nih.gov/42123046/). *J Clin Med*. [Review / Meta-Analysis]
Naito S (2026). [PMID: 42036334](https://pubmed.ncbi.nlm.nih.gov/42036334/). *Endocr J*. [Diagnostic / Biomarker]
Caputo C (2026). [PMID: 41583893](https://pubmed.ncbi.nlm.nih.gov/41583893/). *JCEM Case Rep*. [Case Report / Case Series]
Tomkins M (2026). [PMID: 41203493](https://pubmed.ncbi.nlm.nih.gov/41203493/). *Best practice & research. Clinical endocrinology & metabolism*. [Epidemiology / Natural History]
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 8:03 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Other research | 2 | 1% |
New treatment approaches | 1 | 1% |