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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessDiabetes insipidus, centralis/nephrogenic, familial; differential diagnosis


Short information

Comprehensive differential diagnostic panel for Diabetes insipidus, centralis/nephrogenic comprising 1 guideline-curated and 2 addional curated genes according to the clinical signs. Genetic causes of exclusively secodary Diabetes insipidus are covered by the analysis of 3 additional genes.

Number of genes
3 Accredited laboratory test
Examined sequence length
2,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
AQP2816NM_000486.6AD, AR

Informations about the disease

Clinical Comment

Diabetes insipidus is characterized by polyuria and polydipsia. Acquired forms are often caused by injury to the hypothalamus or pituitary gland, tumors, trauma, ischemia, autoimmune disease or they result from primary polydipsia. Neurohypophyseal or central diabetes insipidus is due to insufficient production of arginine vasopressin (AVP) in the posterior pituitary lobe; nephrogenic diabetes insipidus (NDI) develops from defects in renal vasopressin signaling or from increased AVP depletion by placental vasopressinase during pregnancy. Hereditary NDI is most commonly inherited in an X-linked manner (90% of patients), autosomal recessively (9%) or autosomal dominantly (1%). The inherited forms should be clarifiable by molecular genetics.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1177/


  • Alias: Monogenic nephrogenic diabetes insipidus (AQP2, AVPR2)
  • Alias: Neurogenic diabetes insipidus (AVP)
  • Allelic: Blood group, Colton (AQP1)
  • Allelic: Cataract 41 (WFS1)
  • Allelic: Deafness, AD 6/14/38 (WFS1)
  • Allelic: Diabetes mellitus, noninsulin-dependent, association with (WFS1)
  • Allelic: Nephrogenic syndrome of inappropriate antidiuresis (AVPR2)
  • Aquaporin-1 deficiency (AQP1) 3
  • Bartter syndrome, type 1 [secondary diabetes insipidus only] (SLC12A1)
  • Diabetes insipidus, nephrogenic (AQP2, AVPR2)
  • Diabetes insipidus, neurohypophyseal (AVP)
  • Neuropophyseal diabetes insipidus [panelapp] (AQP1)
  • Wolfram syndrome 1 [secondary diabetes insipidus only] (WFS1)
  • Wolfram-like syndrome, AD [secondary diabetes insipidus only] (WFS1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined