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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

Diabetes insipidus--diagnosis and management.
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
Expression of three different mutations in the arginine vasopressin gene suggests genotype-phenotype correlation in familial neurohypophyseal diabetes insipidus kindreds.
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

Familial neurohypophyseal diabetes insipidus in 13 kindreds and 2 novel mutations in the vasopressin gene.
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
Dominant pro-vasopressin mutants that cause diabetes insipidus form disulfide-linked fibrillar aggregates in the endoplasmic reticulum.
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
Magnetic resonance imaging of posterior pituitary for evaluation of the neurohypophyseal function in idiopathic and autosomal dominant neurohypophyseal diabetes insipidus.
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
A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus.
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

Familial neurohypophyseal diabetes insipidus in 13 kindreds and 2 novel mutations in the vasopressin gene.
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
A missense mutation in the arginine-vasopressin neurophysin-II gene causes autosomal dominant neurohypophyseal diabetes insipidus in a Chinese family.
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
Clinical and molecular analysis of a Chinese family with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel missense mutation in the vasopressin-neurophysin II gene.
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
Autosomal dominant neurohypophyseal diabetes insipidus with linkage to chromosome 20p13 but without mutations in the AVP-NPII gene.
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
Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II).
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

Familial neurohypophyseal diabetes insipidus in 13 kindreds and 2 novel mutations in the vasopressin gene.
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
Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene.
Elias PC, Elias LL, Torres N, Moreira AC, Antunes-Rodrigues J, Castro M
Clin Endocrinol (Oxf) 2003 Oct;59(4):511-8. doi: 10.1046/j.1365-2265.2003.01834.x. PMID: 14510916
Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine(2) in the vasopressin moiety of the hormone precursor.
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
Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II).
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
Heterogeneity in clinical manifestation of autosomal dominant neurohypophyseal diabetes insipidus caused by a mutation encoding Ala-1-->Val in the signal peptide of the arginine vasopressin/neurophysin II/copeptin precursor.
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

Familial neurohypophyseal diabetes insipidus in 13 kindreds and 2 novel mutations in the vasopressin gene.
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
Autosomal dominant neurohypophyseal diabetes insipidus with linkage to chromosome 20p13 but without mutations in the AVP-NPII gene.
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
Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine(2) in the vasopressin moiety of the hormone precursor.
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
Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II).
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
Heterogeneity in clinical manifestation of autosomal dominant neurohypophyseal diabetes insipidus caused by a mutation encoding Ala-1-->Val in the signal peptide of the arginine vasopressin/neurophysin II/copeptin precursor.
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

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