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Hereditary central diabetes insipidus

Disease definition

Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.

ORPHA:30925

Classification level: Subtype of disorder
  • Synonym(s):
    • Hereditary CDI
    • Hereditary neurogenic diabetes insipidus
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked dominant 
  • Age of onset: Childhood
  • ICD-10: E23.2
  • ICD-11: 5A61.5
  • OMIM: 125700  304900
  • UMLS: C5680110
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

The prevalence is unknown.

Clinical description

Symptoms usually develop between 1 and 6 years of age but onset in the neonatal period or in elderly patients has been described. They include polyuria, polydipsia and nocturia (often manifesting as enuresis in children). Additional symptoms seen in children can include: lethargy, irritability, growth retardation, weight loss, fever, vomiting or diarrhea. In the autosomal recessive form, symptoms are secondary to reduced biological activity of mutant AVP; heterozygous carriers have subclinical manifestations or are asymptomatic.

Etiology

The origin of the disease is genetic and is usually due to a mutation in the AVP gene located on chromosome 20p13 that encodes a precursor protein consisting of arginine vasopressin and two associated proteins, neurophysin 2 and copeptin. All except a few cases show an autosomal dominant pattern of inheritance. Rarely, an autosomal recessive or X-linked pattern of inheritance is reported.

Expert reviewer(s):  Dr Stefano GHIRARDELLO - Last update: July 2012

  A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012) Português (2012) Polski (2012, pdf)

Detailed information

Guidelines

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.