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Details for phenotype: X-linked nephrogenic diabetes insipidus
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EndoNet ID: ENP00501
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Name
X-linked nephrogenic diabetes insipidus
General information
This phenotype is pathologic
Nephrogenic diabetes insipidus (NDI) is a rare inherited disease. The kidney produces enormous quantities of hypotonic urine. Thus, patients with NDI have dramatic polyuria and polydipsia, and any episode of additional water loss (fever, diarrhoea, vomiting) may lead to potential life threatening dehydration and hypernatraemia, especially in infants and toddlers.
[1]
Links to other resources
GO
response to peptide hormone stimulus
OMIM
304800
Medline Plus
000377
MeSH term
D018500
Disease database
3639
Phenotype triggers
V2
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in
kidney
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Nephrogenic diabetes insipidus is characterised by the failure of the kidney to respond to arginine vasopressin (AVP) because of a receptor or postreceptor defect, despite raised serum concentrations of AVP.
[2]
Reference
