neurohypophyseal diabetes insipidus
Findings
No curated finding names neurohypophyseal diabetes insipidus yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0007450), read 2026-09-29. CC BY 4.0.
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Diabetes insipidusHPOHP:0000873
- Very frequent (80% to 99% of cases)
- PolydipsiaHPOHP:0001959
- Very frequent (80% to 99% of cases)
- DiarrheaHPOHP:0002014
- Frequent (30% to 79% of cases)
- FeverHPOHP:0001945
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- IrritabilityHPOHP:0000737
- Frequent (30% to 79% of cases)
- LethargyHPOHP:0001254
- Frequent (30% to 79% of cases)
- VomitingHPOHP:0002013
- Frequent (30% to 79% of cases)
- Weight lossHPOHP:0001824
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AVPHGNC:894
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
9 names
Resolves to: neurohypophyseal diabetes insipidus
- Also called
- ADH deficiencyantidiuretic hormone deficiencyArginine Vasopressin DeficiencyAVP deficiencydiabetes insipidus of pituitary glandhereditary CDIhereditary neurogenic diabetes insipiduspituitary gland diabetes insipidusvasopressin deficiency