Nephrogenic diabetes insipidus

Disease ID:672
Name:Nephrogenic diabetes insipidus
Associated with:1 target
Database Links
Disease Ontology: DOID:12387
OMIM: 304800
Orphanet: ORPHA223

Targets

V2 receptor
Comments:  183 mutations of the AVPR2 gene have been found in X-linked nephrogenic diabetes insipidus patients. 89 missense, 18 nonsense, 45 frameshift deletion or insertion, 7 in-frame deletion or insertion, 4 splice-site, 19 large deletion, 1 complex mutation.
References:  1-31

Ligands

No ligand related data available for Nephrogenic diabetes insipidus

References

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1. Ala Y, Morin D, Mouillac B, Sabatier N, Vargas R, Cotte N, Déchaux M, Antignac C, Arthus MF, Lonergan M, Turner MS, Balestre MN, Alonso G, Hibert M, Barberis C, Hendy GN, Bichet DG, Jard S. (1998) Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype. J Am Soc Nephrol, 9: 1861-1872. [PMID:9773787]

2. Albertazzi E, Zanchetta D, Barbier P, Faranda S, Frattini A, Vezzoni P, Procaccio M, Bettinelli A, Guzzi F, Parenti M, Chini B. (2000) Nephrogenic diabetes insipidus: functional analysis of new AVPR2 mutations identified in Italian families. J Am Soc Nephrol, 11: 1033-1043. [PMID:10820167]

3. Bichet DG. (2006) Nephrogenic diabetes insipidus. Adv Chronic Kidney Dis, 13: 96-104. [PMID:16580609]

4. Bichet DG, Turner M, Morin D. (1998) Vasopressin receptor mutations causing nephrogenic diabetes insipidus. Proc Assoc Am Physicians, 110: 387-394. [PMID:9756088]

5. Birnbaumer M. (1999) Vasopressin receptor mutations and nephrogenic diabetes insipidus. Arch Med Res, 30: 465-474. [PMID:10714359]

6. Chan Seem CP, Dossetor JF, Penney MD. (1999) Nephrogenic diabetes insipidus due to a new mutation of the arginine vasopressin V2 receptor gene in a girl presenting with non-accidental injury. Ann Clin Biochem, 36: 779-782. [PMID:10586320]

7. Cheong HI, Park HW, Ha IS, Moon HN, Choi Y, Ko KW, Jun JK. (1997) Six novel mutations in the vasopressin V2 receptor gene causing nephrogenic diabetes insipidus. Nephron, 75: 431-437. [PMID:9127330]

8. Deen PM, Knoers NV. (1998) Vasopressin type-2 receptor and aquaporin-2 water channel mutants in nephrogenic diabetes insipidus. Am J Med Sci, 316: 300-309. [PMID:9822112]

9. Dong Y, Sheng H, Chen X, Yin J, Su Q. (2006) Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus. BMC Genet, 7: 53-53. [PMID:17101063]

10. Fujiwara TM, Bichet DG. (2005) Molecular biology of hereditary diabetes insipidus. J Am Soc Nephrol, 16: 2836-2846. [PMID:16093448]

11. Inaba S, Hatakeyama H, Taniguchi N, Miyamori I. (2001) The property of a novel v2 receptor mutant in a patient with nephrogenic diabetes insipidus. J Clin Endocrinol Metab, 86: 381-385. [PMID:11232028]

12. Kamperis K, Siggaard C, Herlin T, Nathan E, Hertz JM, Rittig S. (2000) A novel splicing mutation in the V2 vasopressin receptor. Pediatr Nephrol, 15: 43-49. [PMID:11095010]

13. Knoers NV, van den Ouweland AM, Verdijk M, Monnens LA, van Oost BA. (1994) Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus. Kidney Int, 46: 170-176. [PMID:7933835]

14. Kotnik P, Battelino T, Debeljak M, Podkrajsek KT, Waldhauser F, Frøkiaer J, Nielsen S, Krzisnik C. (2007) Correlation between AVPR2 mutations and urinary AQP2 excretion in patients with nephrogenic diabetes insipidus. J Pediatr Endocrinol Metab, 20: 483-489. [PMID:17550212]

15. Lolait SJ, O'Carroll AM, McBride OW, Konig M, Morel A, Brownstein MJ. (1992) Cloning and characterization of a vasopressin V2 receptor and possible link to nephrogenic diabetes insipidus. Nature., 357: 336-339. [PMID:1534150]

16. Morin D, Ala Y, Sabatier N, Cotte N, Hendy G, Vargas R, Déchaux M, Antignac C, Hibert M, Bichet D, Barberis C. (1998) Functional study of two V2 vasopressin mutant receptors related to NDI. P322S and P322H. Adv Exp Med Biol, 449: 391-393. [PMID:10026830]

17. Moses AM, Sangani G, Miller JL. (1995) Proposed cause of marked vasopressin resistance in a female with an X-linked recessive V2 receptor abnormality. J Clin Endocrinol Metab, 80: 1184-1186. [PMID:7714087]

18. Oksche A, Möller A, Dickson J, Rosendahl W, Rascher W, Bichet DG, Rosenthal W. (1996) Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus. Hum Genet, 98: 587-589. [PMID:8882880]

19. Oksche A, Schülein R, Rutz C, Liebenhoff U, Dickson J, Müller H, Birnbaumer M, Rosenthal W. (1996) Vasopressin V2 receptor mutants that cause X-linked nephrogenic diabetes insipidus: analysis of expression, processing, and function. Mol Pharmacol, 50: 820-828. [PMID:8863826]

20. Pan Y, Metzenberg A, Das S, Jing B, Gitschier J. (1992) Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. Nat Genet, 2: 103-106. [PMID:1303257]

21. Pasel K, Schulz A, Timmermann K, Linnemann K, Hoeltzenbein M, Jääskeläinen J, Grüters A, Filler G, Schöneberg T. (2000) Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families. J Clin Endocrinol Metab, 85: 1703-1710. [PMID:10770218]

22. Robben JH, Knoers NV, Deen PM. (2006) Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus. Am J Physiol Renal Physiol, 291: F257-F270. [PMID:16825342]

23. Rocha JL, Friedman E, Boson W, Moreira A, Figueiredo B, Liberman B, de Lacerda L, Sandrini R, Graf H, Martins S, Puñales MK, De Marco L. (1999) Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic diabetes insipidus. Hum Mutat, 14: 233-239. [PMID:10477431]

24. Sato K, Fukuno H, Taniguchi T, Sawada S, Fukui T, Kinoshita M. (1999) A novel mutation in the vasopressin V2 receptor gene in a woman with congenital nephrogenic diabetes insipidus. Intern Med, 38: 808-812. [PMID:10526945]

25. Schülein R, Zühlke K, Krause G, Rosenthal W. (2001) Functional rescue of the nephrogenic diabetes insipidus-causing vasopressin V2 receptor mutants G185C and R202C by a second site suppressor mutation. J Biol Chem, 276: 8384-8392. [PMID:11116139]

26. Seibold A, Brabet P, Rosenthal W, Birnbaumer M. (1992) Structure and chromosomal localization of the human antidiuretic hormone receptor gene. Am J Hum Genet, 51: 1078-1083. [PMID:1415251]

27. Szalai C, Triga D, Czinner A. (1998) C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabetes insipidus. Mutations in brief no. 165. Online. Hum Mutat, 12: 137-138. [PMID:10694923]

28. Tajima T, Nakae J, Takekoshi Y, Takahashi Y, Yuri K, Nagashima T, Fujieda K. (1996) Three novel AVPR2 mutations in three Japanese families with X-linked nephrogenic diabetes insipidus. Pediatr Res, 39: 522-526. [PMID:8929875]

29. Tsukaguchi H, Matsubara H, Aritaki S, Kimura T, Abe S, Inada M. (1993) Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus. Biochem Biophys Res Commun, 197: 1000-1010. [PMID:8267567]

30. Tsukaguchi H, Matsubara H, Inada M. (1995) Expression studies of two vasopressin V2 receptor gene mutations, R202C and 804insG, in nephrogenic diabetes insipidus. Kidney Int, 48: 554-562. [PMID:7564126]

31. Wildin RS, Cogdell DE, Valadez V. (1998) AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus. Kidney Int, 54: 1909-1922. [PMID:9853256]