KEGG   DISEASE: Congenital nephrogenic diabetes insipidus
Entry
H00252                      Disease                                
Name
Congenital nephrogenic diabetes insipidus
Description
Nephrogenic diabetes insipidus (NDI) is characterized by renal insensitivity to the antidiuretic effect of arginine vasopressin.
Category
Urinary system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 16 Diseases of the genitourinary system
  Diseases of the urinary system
   GB90  Certain specified disorders of kidney or ureter
    H00252  Congenital nephrogenic diabetes insipidus
Pathway
hsa04962  Vasopressin-regulated water reabsorption
Gene
(NDI1) AVPR2 [HSA:554] [KO:K04228]
(NDI2) AQP2 [HSA:359] [KO:K09865]
Other DBs
ICD-11: GB90.4A
MeSH: D018500
OMIM: 304800 125800
Reference
PMID:17908859
  Authors
Linshaw MA
  Title
Back to basics: congenital nephrogenic diabetes insipidus.
  Journal
Pediatr Rev 28:372-80 (2007)
DOI:10.1542/pir.28-10-372
Reference
PMID:16580609
  Authors
Bichet DG
  Title
Nephrogenic diabetes insipidus.
  Journal
Adv Chronic Kidney Dis 13:96-104 (2006)
DOI:10.1053/j.ackd.2006.01.006
Reference
PMID:11793119
  Authors
Knoers NV, Deen PM
  Title
Molecular and cellular defects in nephrogenic diabetes insipidus.
  Journal
Pediatr Nephrol 16:1146-52 (2001)
DOI:10.1007/s004670100051
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