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Neurohypophyseal diabetes insipidus(CDI)

MedGen UID:
146919
Concept ID:
C0687720
Disease or Syndrome
Synonyms: Central diabetes insipidus; Diabetes insipidus cranial type; Diabetes Insipidus, Neurogenic; DIABETES INSIPIDUS, PRIMARY CENTRAL; Pituitary diabetes insipidus
Modes of inheritance:
X-linked inheritance
MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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
Sources: HPO, OMIM, 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
Sources: HPO, OMIM, 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.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
X-linked dominant inheritance (HPO, OMIM, Orphanet)
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)
 
Gene (location): AVP (20p13)
OMIM®: 125700
HPO: HP:0000863
Orphanet: ORPHA178029

Definition

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). [from OMIM]

Additional description

From GHR
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 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.  https://ghr.nlm.nih.gov/condition/neurohypophyseal-diabetes-insipidus

Clinical features

From HPO
Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Abnormal enlargement or swelling of a KIDNEY due to dilation of the KIDNEY CALICES and the KIDNEY PELVIS. It is often associated with obstruction of the URETER or chronic kidney diseases that prevents normal drainage of urine into the URINARY BLADDER.
Polyuria
MedGen UID:
19404
Concept ID:
C0032617
Sign or Symptom
An increased rate of urine production.
Gliosis
MedGen UID:
4899
Concept ID:
C0017639
Pathologic Function
Gliosis is the focal proliferation of glial cells in the central nervous system.
Polydipsia
MedGen UID:
43214
Concept ID:
C0085602
Sign or Symptom
Chronic excessive intake of water; it may be from an organic cause, such as the dehydration of diabetes mellitus, diabetes insipidus, or a reaction to medication, or from a psychological cause. When untreated it can lead to water intoxication.
Neurohypophyseal diabetes insipidus
MedGen UID:
146919
Concept ID:
C0687720
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).
Alkalosis
MedGen UID:
1410
Concept ID:
C0002063
Disease or Syndrome
A pathological condition that removes acid or adds base to the body fluids.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
Abnormally low potassium concentration in the blood. It may result from potassium loss by renal secretion or by the gastrointestinal route, as by vomiting or diarrhea. It may be manifested clinically by neuromuscular disorders ranging from weakness to paralysis, by electrocardiographic abnormalities (depression of the T wave and elevation of the U wave), by renal disease, and by gastrointestinal disorders. (Dorland, 27th ed)
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Decreased calcification or density of bone tissue.
Wide nose
MedGen UID:
140869
Concept ID:
C0426421
Finding
Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.
Short nose
MedGen UID:
343052
Concept ID:
C1854114
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Neurohypophyseal diabetes insipidus
MedGen UID:
146919
Concept ID:
C0687720
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).
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Term Hierarchy

Conditions with this feature

Neurohypophyseal diabetes insipidus
MedGen UID:
146919
Concept ID:
C0687720
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).
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1
MedGen UID:
343663
Concept ID:
C1851841
Disease or Syndrome
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 (subjective hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, and hypoplastic breasts and/or nipples. 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, hypospadias, trismus, and excessive freckling.

Recent clinical studies

Etiology

Ilhan M, Tiryakioglu NO, Karaman O, Coskunpinar E, Yildiz RS, Turgut S, Tiryakioglu D, Toprak H, Tasan E
J Endocrinol Invest 2016 Mar;39(3):285-90. Epub 2015 Jul 25 doi: 10.1007/s40618-015-0357-9. PMID: 26208472
Lindenthal V, Mainberger A, Morris-Rosendahl DJ, Löning L, Mayer W, Müller HL
Klin Padiatr 2013 Dec;225(7):407-12. Epub 2013 Oct 24 doi: 10.1055/s-0033-1354388. PMID: 24158882
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
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

Diagnosis

Kvistgaard H, Christensen JH, Johansson JO, Gregersen N, Siggaard Rittig C, Rittig S, Corydon TJ
Neuroendocrinology 2018;107(2):167-180. Epub 2018 Jun 27 doi: 10.1159/000491579. PMID: 29949799
Toustrup LB, Kvistgaard H, Palmfeldt J, Bjerre CK, Gregersen N, Rittig S, Corydon TJ, Christensen JH
Neuroendocrinology 2018;106(2):167-186. Epub 2017 May 12 doi: 10.1159/000477246. PMID: 28494452
Hrčková G, Jankó V, Kytnarová J, Čižmárová M, Tesařová M, Košťálová Ľ, Virgová D, Dallos T, Hána V, Lebl J, Zeman J, Kovács L
Eur J Pediatr 2016 Sep;175(9):1199-1207. Epub 2016 Aug 18 doi: 10.1007/s00431-016-2759-x. PMID: 27539621
Tian D, Cen J, Nie M, Gu F
Int J Mol Med 2016 Oct;38(4):1243-9. Epub 2016 Aug 11 doi: 10.3892/ijmm.2016.2703. PMID: 27513365
Ilhan M, Tiryakioglu NO, Karaman O, Coskunpinar E, Yildiz RS, Turgut S, Tiryakioglu D, Toprak H, Tasan E
J Endocrinol Invest 2016 Mar;39(3):285-90. Epub 2015 Jul 25 doi: 10.1007/s40618-015-0357-9. PMID: 26208472

Therapy

Oiso Y, Robertson GL, Nørgaard JP, Juul KV
J Clin Endocrinol Metab 2013 Oct;98(10):3958-67. Epub 2013 Jul 24 doi: 10.1210/jc.2013-2326. PMID: 23884783
Babey M, Kopp P, Robertson GL
Nat Rev Endocrinol 2011 Jul 5;7(12):701-14. doi: 10.1038/nrendo.2011.100. PMID: 21727914
de Fost M, van Trotsenburg AS, van Santen HM, Endert E, van den Elzen C, Kamsteeg EJ, Swaab DF, Fliers E
Eur J Endocrinol 2011 Jul;165(1):161-5. Epub 2011 Apr 15 doi: 10.1530/EJE-11-0048. PMID: 21498630
Miyakoshi M, Kamoi K, Murase T, Sugimura Y, Oiso Y
Endocr J 2004 Dec;51(6):551-6. doi: 10.1507/endocrj.51.551. PMID: 15644573
Meinders AE, van Leeuwen AM, Borst JG, Cejka V
Clin Sci Mol Med 1975 Oct;49(4):283-90. doi: 10.1042/cs0490283. PMID: 1192687

Prognosis

Hrčková G, Jankó V, Kytnarová J, Čižmárová M, Tesařová M, Košťálová Ľ, Virgová D, Dallos T, Hána V, Lebl J, Zeman J, Kovács L
Eur J Pediatr 2016 Sep;175(9):1199-1207. Epub 2016 Aug 18 doi: 10.1007/s00431-016-2759-x. PMID: 27539621
Ilhan M, Tiryakioglu NO, Karaman O, Coskunpinar E, Yildiz RS, Turgut S, Tiryakioglu D, Toprak H, Tasan E
J Endocrinol Invest 2016 Mar;39(3):285-90. Epub 2015 Jul 25 doi: 10.1007/s40618-015-0357-9. PMID: 26208472
Lindenthal V, Mainberger A, Morris-Rosendahl DJ, Löning L, Mayer W, Müller HL
Klin Padiatr 2013 Dec;225(7):407-12. Epub 2013 Oct 24 doi: 10.1055/s-0033-1354388. PMID: 24158882
Birkegaard C, Christensen JH, Falorni A, Marzotti S, Minarelli V, Gregersen N, Rittig S
Pituitary 2013 Jun;16(2):152-7. doi: 10.1007/s11102-012-0392-x. PMID: 22695750
Christensen JH, Kvistgaard H, Knudsen J, Shaikh G, Tolmie J, Cooke S, Pedersen S, Corydon TJ, Gregersen N, Rittig S
Clin Genet 2013 Jan;83(1):44-52. Epub 2012 Jan 17 doi: 10.1111/j.1399-0004.2011.01833.x. PMID: 22168581

Clinical prediction guides

Rutishauser J, Beuret N, Prescianotto-Baschong C, Spiess M
Exp Suppl 2019;111:299-315. doi: 10.1007/978-3-030-25905-1_14. PMID: 31588537
Hrčková G, Jankó V, Kytnarová J, Čižmárová M, Tesařová M, Košťálová Ľ, Virgová D, Dallos T, Hána V, Lebl J, Zeman J, Kovács L
Eur J Pediatr 2016 Sep;175(9):1199-1207. Epub 2016 Aug 18 doi: 10.1007/s00431-016-2759-x. PMID: 27539621
Ilhan M, Tiryakioglu NO, Karaman O, Coskunpinar E, Yildiz RS, Turgut S, Tiryakioglu D, Toprak H, Tasan E
J Endocrinol Invest 2016 Mar;39(3):285-90. Epub 2015 Jul 25 doi: 10.1007/s40618-015-0357-9. PMID: 26208472
Birkegaard C, Christensen JH, Falorni A, Marzotti S, Minarelli V, Gregersen N, Rittig S
Pituitary 2013 Jun;16(2):152-7. doi: 10.1007/s11102-012-0392-x. PMID: 22695750
Christensen JH, Kvistgaard H, Knudsen J, Shaikh G, Tolmie J, Cooke S, Pedersen S, Corydon TJ, Gregersen N, Rittig S
Clin Genet 2013 Jan;83(1):44-52. Epub 2012 Jan 17 doi: 10.1111/j.1399-0004.2011.01833.x. PMID: 22168581

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