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Central diabetes insipidus(CDI)

MedGen UID:
146919
Concept ID:
C0687720
Disease or Syndrome
Synonyms: Central Diabetes Insipidus; Diabetes Insipidus Cranial Type; Diabetes Insipidus Primary Central; Diabetes Insipidus Secondary To Vasopressin Deficiency; Diabetes Insipidus, Central; Diabetes Insipidus, Cranial Type; Diabetes Insipidus, Neurogenic; Diabetes Insipidus, Neurohypophyseal; Diabetes Insipidus, Neurohypophyseal Type; Diabetes Insipidus, Pituitary; Diabetes Insipidus, Primary Central; Neurogenic Diabetes Insipidus; Neurohypophyseal Diabetes Insipidus; Pituitary Diabetes Insipidus; Vasopressin Defective Diabetes Insipidus; Vasopressin Deficiency
SNOMED CT: Diabetes insipidus - pituitary (45369008); Vasopressin deficiency (45369008); Central diabetes insipidus (45369008); Diabetes insipidus secondary to vasopressin deficiency (45369008); Vasopressin deficiency syndrome (45369008); Neurohypophyseal diabetes insipidus (45369008); Pituitary diabetes insipidus (45369008); Primary central diabetes insipidus (45369008); Neurogenic diabetes insipidus (45369008); Cranial diabetes insipidus (45369008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
 
Related gene: AVP
 
HPO: HP:0000863
Monarch Initiative: MONDO:0015790
OMIM®: 125700; 192340
Orphanet: ORPHA178029

Definition

Neurohypophyseal diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with neurohypophyseal diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected people need to urinate frequently, which can disrupt daily activities and sleep.

People with neurohypophyseal diabetes insipidus can quickly become dehydrated if they do not drink enough water. Dehydration can lead to constipation and dry skin. If the disorder is not treated, more serious complications of dehydration can occur. These include confusion, low blood pressure, seizures, and coma.

Neurohypophyseal diabetes insipidus can be either acquired or familial. The acquired form is brought on by injuries, tumors, and other factors, and can occur at any time during life. The familial form is caused by genetic mutations; its signs and symptoms usually become apparent in childhood and worsen over time.

Neurohypophyseal diabetes insipidus should not be confused with diabetes mellitus, which is much more common. Diabetes mellitus is characterized by high blood sugar (glucose) levels resulting from a shortage of the hormone insulin or an insensitivity to this hormone. Although neurohypophyseal diabetes insipidus and diabetes mellitus have some features in common, they are separate disorders with different causes. [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Central diabetes insipidus in Orphanet.

Conditions with this feature

Neurohypophyseal diabetes insipidus
MedGen UID:
574999
Concept ID:
C0342394
Disease or Syndrome
Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopressin deficiency during childhood (summary by Wahlstrom et al., 2004).
Holoprosencephaly 3
MedGen UID:
327125
Concept ID:
C1840529
Disease or Syndrome
Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene.
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
MedGen UID:
343663
Concept ID:
C1851841
Disease or Syndrome
An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
MedGen UID:
347666
Concept ID:
C1858562
Disease or Syndrome
The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.
Holoprosencephaly 5
MedGen UID:
355304
Concept ID:
C1864827
Disease or Syndrome
Holoprosencephaly associated with mutations in the ZIC2 gene.
Combined oxidative phosphorylation deficiency 57
MedGen UID:
1824048
Concept ID:
C5774275
Disease or Syndrome
Combined oxidative phosphorylation deficiency-57 (COXPD57) is an autosomal recessive multisystem mitochondrial disease with varying degrees of severity from premature death in infancy to permanent disability in young adulthood (Lee et al., 2022). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).

Professional guidelines

PubMed

Tomkins M, Lawless S, Martin-Grace J, Sherlock M, Thompson CJ
J Clin Endocrinol Metab 2022 Sep 28;107(10):2701-2715. doi: 10.1210/clinem/dgac381. PMID: 35771962Free PMC Article
Christ-Crain M, Winzeler B, Refardt J
J Intern Med 2021 Jul;290(1):73-87. Epub 2021 Mar 13 doi: 10.1111/joim.13261. PMID: 33713498
Makaryus AN, McFarlane SI
Cleve Clin J Med 2006 Jan;73(1):65-71. doi: 10.3949/ccjm.73.1.65. PMID: 16444918

Curated

UK NICE Guideline NG19, Diabetic foot problems: prevention and management, 2019

Recent clinical studies

Etiology

Almalki MH, Ahmad MM, Brema I, Almehthel M, AlDahmani KM, Mahzari M, Beshyah SA
Sultan Qaboos Univ Med J 2021 Aug;21(3):354-364. Epub 2021 Aug 29 doi: 10.18295/squmj.4.2021.010. PMID: 34522399Free PMC Article
Cerbone M, Visser J, Bulwer C, Ederies A, Vallabhaneni K, Ball S, Kamaly-Asl I, Grossman A, Gleeson H, Korbonits M, Nanduri V, Tziaferi V, Jacques T, Spoudeas HA
Lancet Child Adolesc Health 2021 Sep;5(9):662-676. Epub 2021 Jun 30 doi: 10.1016/S2352-4642(21)00088-2. PMID: 34214482
Patti G, Ibba A, Morana G, Napoli F, Fava D, di Iorgi N, Maghnie M
Best Pract Res Clin Endocrinol Metab 2020 Sep;34(5):101440. Epub 2020 Jun 29 doi: 10.1016/j.beem.2020.101440. PMID: 32646670
Winzeler B, Cesana-Nigro N, Refardt J, Vogt DR, Imber C, Morin B, Popovic M, Steinmetz M, Sailer CO, Szinnai G, Chifu I, Fassnacht M, Christ-Crain M
Lancet 2019 Aug 17;394(10198):587-595. Epub 2019 Jul 11 doi: 10.1016/S0140-6736(19)31255-3. PMID: 31303316
Eisenberg Y, Frohman LA
Endocr Pract 2016 Jan;22(1):76-83. Epub 2015 Sep 24 doi: 10.4158/EP15940.RA. PMID: 26401579

Diagnosis

Tomkins M, Lawless S, Martin-Grace J, Sherlock M, Thompson CJ
J Clin Endocrinol Metab 2022 Sep 28;107(10):2701-2715. doi: 10.1210/clinem/dgac381. PMID: 35771962Free PMC Article
Christ-Crain M, Winzeler B, Refardt J
J Intern Med 2021 Jul;290(1):73-87. Epub 2021 Mar 13 doi: 10.1111/joim.13261. PMID: 33713498
Refardt J, Winzeler B, Christ-Crain M
Endocrinol Metab Clin North Am 2020 Sep;49(3):517-531. Epub 2020 Jul 15 doi: 10.1016/j.ecl.2020.05.012. PMID: 32741486
Dabrowski E, Kadakia R, Zimmerman D
Best Pract Res Clin Endocrinol Metab 2016 Mar;30(2):317-28. Epub 2016 Feb 27 doi: 10.1016/j.beem.2016.02.006. PMID: 27156767
Makaryus AN, McFarlane SI
Cleve Clin J Med 2006 Jan;73(1):65-71. doi: 10.3949/ccjm.73.1.65. PMID: 16444918

Therapy

Atila C, Loughrey PB, Garrahy A, Winzeler B, Refardt J, Gildroy P, Hamza M, Pal A, Verbalis JG, Thompson CJ, Hemkens LG, Hunter SJ, Sherlock M, Levy MJ, Karavitaki N, Newell-Price J, Wass JAH, Christ-Crain M
Lancet Diabetes Endocrinol 2022 Oct;10(10):700-709. Epub 2022 Aug 22 doi: 10.1016/S2213-8587(22)00219-4. PMID: 36007536
Christ-Crain M, Gaisl O
Presse Med 2021 Dec;50(4):104093. Epub 2021 Oct 27 doi: 10.1016/j.lpm.2021.104093. PMID: 34718110
Garrahy A, Thompson CJ
Best Pract Res Clin Endocrinol Metab 2020 Sep;34(5):101385. Epub 2020 Jan 31 doi: 10.1016/j.beem.2020.101385. PMID: 32169331
Dabrowski E, Kadakia R, Zimmerman D
Best Pract Res Clin Endocrinol Metab 2016 Mar;30(2):317-28. Epub 2016 Feb 27 doi: 10.1016/j.beem.2016.02.006. PMID: 27156767
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

Prognosis

Refardt J, Christ-Crain M
Swiss Med Wkly 2020 May 4;150:w20237. Epub 2020 May 6 doi: 10.4414/smw.2020.20237. PMID: 32374887
Goyal G, Heaney ML, Collin M, Cohen-Aubart F, Vaglio A, Durham BH, Hershkovitz-Rokah O, Girschikofsky M, Jacobsen ED, Toyama K, Goodman AM, Hendrie P, Cao XX, Estrada-Veras JI, Shpilberg O, Abdo A, Kurokawa M, Dagna L, McClain KL, Mazor RD, Picarsic J, Janku F, Go RS, Haroche J, Diamond EL
Blood 2020 May 28;135(22):1929-1945. doi: 10.1182/blood.2019003507. PMID: 32187362
Vega-Beyhart A, Medina-Rangel IR, Hinojosa-Azaola A, Fernández-Barrio M, Vargas-Castro AS, García-Inciarte L, Guzmán-Pérez A, Torres-Victoria TR, Martínez-Sánchez FD, Pérez-Guzmán MC, Hinojosa-Amaya JM, León-Suárez A, Gómez-Sámano MA, Gómez-Pérez FJ, Cuevas-Ramos D
Clin Rheumatol 2020 Feb;39(2):595-606. Epub 2019 Aug 24 doi: 10.1007/s10067-019-04735-7. PMID: 31446541
Kakehi E, Adachi S, Fukuyasu Y, Hashimoto Y, Sakurai S, Hirotani A, Danbara H, Shimizu K, Fujita R, Teraura H, Kotani K, Matsumura M
Endokrynol Pol 2019;70(5):430-437. doi: 10.5603/EP.a2019.0035. PMID: 31681969
Christ-Crain M
Rev Endocr Metab Disord 2019 Sep;20(3):283-294. doi: 10.1007/s11154-019-09509-9. PMID: 31656992

Clinical prediction guides

Almalki MH, Ahmad MM, Brema I, Almehthel M, AlDahmani KM, Mahzari M, Beshyah SA
Sultan Qaboos Univ Med J 2021 Aug;21(3):354-364. Epub 2021 Aug 29 doi: 10.18295/squmj.4.2021.010. PMID: 34522399Free PMC Article
Mahía J, Bernal A
Handb Clin Neurol 2021;181:275-288. doi: 10.1016/B978-0-12-820683-6.00020-8. PMID: 34238463
Meyfroidt G, Gunst J, Martin-Loeches I, Smith M, Robba C, Taccone FS, Citerio G
Intensive Care Med 2019 Mar;45(3):343-353. Epub 2019 Feb 11 doi: 10.1007/s00134-019-05551-y. PMID: 30741327Free PMC Article
Valenti G, Tamma G
G Ital Nefrol 2016 Feb;33 Suppl 66:33.S66.1. PMID: 26913870
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

Recent systematic reviews

Lambert WA, Paro M, Pinci E, Bookland MJ, Martin JE, Riba-Wolman R, McKay L, Hersh DS
J Neurosurg Pediatr 2022 May 1;29(5):580-589. Epub 2022 Feb 25 doi: 10.3171/2022.1.PEDS21469. PMID: 35213827
Zhu J, Wang Z, Wang W, Fan J, Zhang Y, Li X, Liu J, Jiang S, Deng K, Duan L, Yao Y, Zhu H
Front Endocrinol (Lausanne) 2021;12:735655. Epub 2021 Oct 1 doi: 10.3389/fendo.2021.735655. PMID: 34659121Free PMC Article
Loggini A, Tangonan R, El Ammar F, Mansour A, Kramer CL, Lazaridis C, Goldenberg FD
World Neurosurg 2021 Mar;147:172-180.e1. Epub 2020 Dec 17 doi: 10.1016/j.wneu.2020.12.058. PMID: 33346052
Omar AT 2nd, Khu KJO
Childs Nerv Syst 2019 Jul;35(7):1165-1171. Epub 2019 Mar 30 doi: 10.1007/s00381-019-04137-9. PMID: 30929071

Supplemental Content

Table of contents

    Clinical resources

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

    Curated

    • NICE, 2019
      UK NICE Guideline NG19, Diabetic foot problems: prevention and management, 2019

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