Traits

Traits linked to AVPR2

arginine vasopressin receptor 2

The Human Phenotype Ontology links 37 traits to AVPR2, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Hypernatriuria	Always
Low blood sodium levels	Always
Reduced blood urea nitrogen	Always
High blood sodium levels	Very often (80–99%)
Hypernatremic dehydration	Very often (80–99%)
Hyposthenuria	Very often (80–99%)
Decreased serum creatinine	Often (30–79%)
Fever	Often (30–79%)
Hypertonic dehydration	Not recorded
Unexplained fevers	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Anorexia	Often (30–79%)
Constipation	Often (30–79%)
Nausea and vomiting	Often (30–79%)
Feeding difficulties	Sometimes (5–29%)
Feeding difficulties in infancy	Not recorded
Vomiting	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Increased urine output	Always
Functional abnormality of the bladder	Sometimes (5–29%)
Hydroureter	Sometimes (5–29%)
Renal failure	Sometimes (5–29%)
Enuresis nocturna	Rarely (1–4%)
Megacystis	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Extreme thirst	Always
Generalized-onset seizure	Often (30–79%)
Irritability	Often (30–79%)
Epilepsy	Sometimes (5–29%)
Global developmental delay	Rarely (1–4%)
Intellectual disability	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Decreased circulating renin concentration	Always
Diabetes insipidus	Always
Nephrogenic diabetes insipidus	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Growth delay	Sometimes (5–29%)
Short stature	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Elevated systolic blood pressure	Always
Depleted blood volume	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Rarely (1–4%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to AVPR2 and how often each is seen. Find out more at hpo.jax.org.

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