U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Autosomal Dominant Neurohypophyseal Diabetes Insipidus

MedGen UID:
1380925
Concept ID:
C4331824
Disease or Syndrome

Definition

An autosomal dominant form of diabetes insipidus caused by mutation(s) in the AVP gene encoding arginine vasopressin. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal Dominant Neurohypophyseal Diabetes Insipidus

Professional guidelines

PubMed

Di Iorgi N, Napoli F, Allegri AE, Olivieri I, Bertelli E, Gallizia A, Rossi A, Maghnie M
Horm Res Paediatr 2012;77(2):69-84. Epub 2012 Mar 16 doi: 10.1159/000336333. PMID: 22433947
Siggaard C, Christensen JH, Corydon TJ, Rittig S, Robertson GL, Gregersen N, Bolund L, Pedersen EB
Clin Endocrinol (Oxf) 2005 Aug;63(2):207-16. doi: 10.1111/j.1365-2265.2005.02327.x. PMID: 16060916

Recent clinical studies

Etiology

Patti G, Scianguetta S, Roberti D, Di Mascio A, Balsamo A, Brugnara M, Cappa M, Casale M, Cavarzere P, Cipriani S, Corbetta S, Gaudino R, Iughetti L, Martini L, Napoli F, Peri A, Salerno MC, Salerno R, Passeri E, Maghnie M, Perrotta S, Di Iorgi N
Eur J Endocrinol 2019 Sep;181(3):233-244. doi: 10.1530/EJE-19-0299. PMID: 31238300
Birk J, Friberg MA, Prescianotto-Baschong C, Spiess M, Rutishauser J
J Cell Sci 2009 Nov 1;122(Pt 21):3994-4002. Epub 2009 Oct 13 doi: 10.1242/jcs.051136. PMID: 19825939
Ozata M, Tayfun C, Kurtaran K, Yetkin I, Beyhan Z, Corakci A, Cağlayan S, Alemdaroglu A, Gündogan MA
Eur Radiol 1997;7(7):1098-102. doi: 10.1007/s003300050261. PMID: 9265683
Bahnsen U, Oosting P, Swaab DF, Nahke P, Richter D, Schmale H
EMBO J 1992 Jan;11(1):19-23. doi: 10.1002/j.1460-2075.1992.tb05022.x. PMID: 1740104Free PMC Article

Diagnosis

Patti G, Scianguetta S, Roberti D, Di Mascio A, Balsamo A, Brugnara M, Cappa M, Casale M, Cavarzere P, Cipriani S, Corbetta S, Gaudino R, Iughetti L, Martini L, Napoli F, Peri A, Salerno MC, Salerno R, Passeri E, Maghnie M, Perrotta S, Di Iorgi N
Eur J Endocrinol 2019 Sep;181(3):233-244. doi: 10.1530/EJE-19-0299. PMID: 31238300
Ye D, Dong F, Lu W, Zhang Z, Lu X, Li C, Liu Y
Clin Endocrinol (Oxf) 2013 Jun;78(6):920-5. doi: 10.1111/cen.12129. PMID: 23252994
Luo Y, Wang B, Qiu Y, Zhang C, Jin C, Zhao Y, Zhu Q, Ma X
Endocrine 2012 Aug;42(1):208-13. Epub 2012 Feb 4 doi: 10.1007/s12020-012-9606-2. PMID: 22307687
Ye L, Li X, Chen Y, Sun H, Wang W, Su T, Jiang L, Cui B, Ning G
J Clin Endocrinol Metab 2005 Jul;90(7):4388-93. Epub 2005 Apr 5 doi: 10.1210/jc.2004-2000. PMID: 15811933
Flück CE, Deladoëy J, Nayak S, Zeller O, Kopp P, Mullis PE
Eur J Endocrinol 2001 Oct;145(4):439-44. doi: 10.1530/eje.0.1450439. PMID: 11581002

Prognosis

Patti G, Scianguetta S, Roberti D, Di Mascio A, Balsamo A, Brugnara M, Cappa M, Casale M, Cavarzere P, Cipriani S, Corbetta S, Gaudino R, Iughetti L, Martini L, Napoli F, Peri A, Salerno MC, Salerno R, Passeri E, Maghnie M, Perrotta S, Di Iorgi N
Eur J Endocrinol 2019 Sep;181(3):233-244. doi: 10.1530/EJE-19-0299. PMID: 31238300
Wahlstrom JT, Fowler MJ, Nicholson WE, Kovacs WJ
J Clin Endocrinol Metab 2004 Apr;89(4):1963-8. doi: 10.1210/jc.2003-031542. PMID: 15070970
Rittig S, Siggaard C, Ozata M, Yetkin I, Gregersen N, Pedersen EB, Robertson GL
J Clin Endocrinol Metab 2002 Jul;87(7):3351-5. doi: 10.1210/jcem.87.7.8677. PMID: 12107248
Flück CE, Deladoëy J, Nayak S, Zeller O, Kopp P, Mullis PE
Eur J Endocrinol 2001 Oct;145(4):439-44. doi: 10.1530/eje.0.1450439. PMID: 11581002
Repaske DR, Medlej R, Gültekin EK, Krishnamani MR, Halaby G, Findling JW, Phillips JA 3rd
J Clin Endocrinol Metab 1997 Jan;82(1):51-6. doi: 10.1210/jcem.82.1.3660. PMID: 8989232

Clinical prediction guides

Patti G, Scianguetta S, Roberti D, Di Mascio A, Balsamo A, Brugnara M, Cappa M, Casale M, Cavarzere P, Cipriani S, Corbetta S, Gaudino R, Iughetti L, Martini L, Napoli F, Peri A, Salerno MC, Salerno R, Passeri E, Maghnie M, Perrotta S, Di Iorgi N
Eur J Endocrinol 2019 Sep;181(3):233-244. doi: 10.1530/EJE-19-0299. PMID: 31238300
Ye L, Li X, Chen Y, Sun H, Wang W, Su T, Jiang L, Cui B, Ning G
J Clin Endocrinol Metab 2005 Jul;90(7):4388-93. Epub 2005 Apr 5 doi: 10.1210/jc.2004-2000. PMID: 15811933
Wahlstrom JT, Fowler MJ, Nicholson WE, Kovacs WJ
J Clin Endocrinol Metab 2004 Apr;89(4):1963-8. doi: 10.1210/jc.2003-031542. PMID: 15070970
Rittig S, Siggaard C, Ozata M, Yetkin I, Gregersen N, Pedersen EB, Robertson GL
J Clin Endocrinol Metab 2002 Jul;87(7):3351-5. doi: 10.1210/jcem.87.7.8677. PMID: 12107248
Repaske DR, Medlej R, Gültekin EK, Krishnamani MR, Halaby G, Findling JW, Phillips JA 3rd
J Clin Endocrinol Metab 1997 Jan;82(1):51-6. doi: 10.1210/jcem.82.1.3660. PMID: 8989232

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...