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Genetics Library / Conditions / Arginine vasopressin deficiency

CONDITION REFERENCE

Arginine vasopressin deficiency

Information from MedlinePlus Genetics about this condition and how it can be inherited.

About this condition

Arginine vasopressin deficiency (previously called neurohypophyseal diabetes insipidus) is a disorder of water balance. The body normally balances fluid intake by releasing fluid in urine. However, people with arginine vasopressin deficiency produce an excessive amount of urine (polyuria), which depletes the amount of water in the body. This water loss also leads to excessive thirst (polydipsia).

People with arginine vasopressin deficiency can quickly become dehydrated if they do not drink enough water. Dehydration can cause dizziness and fatigue. Prolonged dehydration can lead to confusion, low blood pressure, seizures, and coma. People with this condition often develop high levels of sodium in the blood (hypernatremia) due to dehydration. Repeated cycles of dehydration can cause long-term health problems, particularly in children. 

Arginine vasopressin deficiency can be either acquired or familial. The acquired form occurs when the brain is damaged due to head injuries, brain tumors, or other events, and this form can occur at any time during life. The familial form is caused by genetic changes; its signs and symptoms usually become apparent in childhood and worsen over time.

Researchers have recommended using the condition name arginine vasopressin deficiency because the previous name, neurohypophyseal diabetes insipidus, was often confused with a much more common disorder called diabetes mellitus. Arginine vasopressin deficiency and diabetes mellitus are separate disorders with different features, causes, and treatment.

Source: MedlinePlus, National Library of Medicine. Source publication: 2024-07-19. Source review: 2024-07.

Inheritance

  • Autosomal recessive
  • Autosomal dominant

A condition can have several forms with different inheritance patterns. Each pattern may apply to a different gene or form of the condition.

Related genes

MedlinePlus lists these genes for this condition. Open a gene page to read any available ClinGen reviews and ClinVar records.

YOUR DNA FILE

What can your DNA file tell you?

Your DNA file only includes the positions your test checked and reported. Consumer DNA kits usually test selected positions. Sequencing files can also leave out positions that were not reported or where the test could not give a result.

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Sources and dates

The source information on this page last changed on 2026-09-18.

MedlinePlus Source details

Open source record ↗

Source release: Fri, 18 Sep 2026 05:17:13 GMT
Source publication: 2024-07-19
Source review: 2024-07

SHA-256: fdc8bd614310c12718379cef6569962e5d0e791cecabcc355b53a72816ac263a

About the library sources · Latest validated release · Record cdcddda120a6