MCID: DBT087
MIFTS: 59

Diabetes Insipidus, Neurohypophyseal

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Nephrological diseases, Neuronal diseases

Aliases & Classifications for Diabetes Insipidus, Neurohypophyseal

MalaCards integrated aliases for Diabetes Insipidus, Neurohypophyseal:

Name: Diabetes Insipidus, Neurohypophyseal 54 25 71 13
Neurohypophyseal Diabetes Insipidus 12 50 24 25 29 14
Central Diabetes Insipidus 12 50 25 56 52 69
Neurogenic Diabetes Insipidus 50 56 71
Pituitary Diabetes Insipidus 12 50 25
Cdi 56 71 3
Vasopressin Defective Diabetes Insipidus 12 25
Diabetes Insipidus Cranial Type 50 71
Diabetes Insipidus, Neurogenic 25 42
Vasopressin Deficiency 12 25
Diabetes Insipidus Secondary to Vasopressin Deficiency 25
Diabetes Insipidus, Neurohypophyseal Type 29
Diabetes Insipidus Neurohypophyseal 50
Primary Central Diabetes Insipidus 71
Diabetes Insipidus Neurogenic 50
Diabetes Insipidus, Pituitary 25
Diabetes Insipidus, Central 25
Ndi 71

Characteristics:

Orphanet epidemiological data:

56
central diabetes insipidus
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
diabetes insipidus, neurohypophyseal:
Inheritance autosomal dominant inheritance x-linked inheritance


Classifications:

Orphanet: 56  
Rare endocrine diseases


Summaries for Diabetes Insipidus, Neurohypophyseal

NIH Rare Diseases : 50 central diabetes insipidus (di) is a form of di that occurs when the body has lower than normal levels of antidiuretic hormone (vasopressin), which is characterized by frequent urination. diabetes insipidus is subdivided into central and nephrogenic di. two other forms are gestational di and primary polydipsia (dipsogenic di). central di results from damage to the pituitary gland, which disrupts the normal storage and release of antidiuretic hormone (adh). when this hormone reaches the kidneys, it directs them to make less urine. the major symptoms of central diabetes insipidus (di) include urinating too much (polyuria), getting up at night to urinate (nocturia), and drinking too much liquids (polydipsia).  damage to the pituitary gland can be caused by different diseases as well as by head injuries, neurosurgery, or genetic disorders. the three main options for the treatment of central di include a synthetic hormone called desmopressin, which can be taken by as an injection, a nasal spray, or a pill; other drugs, such as chlorpropamide, carbamazepine, thiazide diuretics, and nonsteroidal anti-inflammatory drugs; and a low-solute (mostly low-sodium, low-protein) diet. last updated: 12/27/2016

MalaCards based summary : Diabetes Insipidus, Neurohypophyseal, also known as neurohypophyseal diabetes insipidus, is related to hereditary central diabetes insipidus and acquired central diabetes insipidus, and has symptoms including failure to thrive, diarrhea and headache. An important gene associated with Diabetes Insipidus, Neurohypophyseal is AVP (Arginine Vasopressin), and among its related pathways/superpathways are Peptide ligand-binding receptors and Neuroscience. The drugs Tolvaptan and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include pituitary, kidney and brain, and related phenotypes are behavior/neurological and homeostasis/metabolism

Genetics Home Reference : 25 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.

OMIM : 54
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 vasopression deficiency during childhood (summary by Wahlstrom et al., 2004). (125700)

CDC : 3 Indicators for Chronic Disease Surveillance - United States, 2013

UniProtKB/Swiss-Prot : 71 Diabetes insipidus, neurohypophyseal: A disease characterized by persistent thirst, polydipsia and polyuria. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopressin deficiency during childhood.

Wikipedia : 72 Central diabetes insipidus, also called neurogenic diabetes insipidus, is a type of diabetes insipidus... more...

Related Diseases for Diabetes Insipidus, Neurohypophyseal

Diseases related to Diabetes Insipidus, Neurohypophyseal via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)
id Related Disease Score Top Affiliating Genes
1 hereditary central diabetes insipidus 12.2
2 acquired central diabetes insipidus 12.2
3 diabetes insipidus, nephrogenic 11.0
4 meester-loeys syndrome 10.6 AVP AVPR2
5 left-right axis malformations 10.5 AQP2 AVP
6 diverticulitis of colon 10.5 AVP AVPR2
7 congenital syphilis 10.5 AQP2 AVP
8 viral laryngitis 10.5 AQP2 AVP
9 cervical alveolar soft part sarcoma 10.5 AVP POMC
10 bagassosis 10.4 AVP POMC
11 macular retinal edema 10.4 AVP POMC
12 seminal vesicle chronic gonorrhea 10.4 AVP POMC
13 central nervous system sarcoma 10.4 AVP PRL
14 internal auditory canal lipoma 10.4 AVP POMC
15 generalized anxiety disorder 10.4 AVPR2 POMC
16 aortic valve atresia 10.3 POMC PRL
17 chondroma 10.3 AVP POMC
18 olfactory nerve neoplasm 10.3 POMC PRL
19 early-onset parkinson disease 10.3 AVPR2 POMC
20 osteoclast-like giant cell neoplasm of the pancreas 10.3 POMC PRL
21 actinobacillosis 10.3 POMC PRL
22 ulcerative blepharitis 10.3 POMC PRL
23 protein s deficiency 10.3 POMC PRL
24 hypothyroidism, congenital, nongoitrous 4 10.3 POMC PRL
25 strabismus 10.3 POMC PRL
26 trabecular follicular adenocarcinoma 10.3 POMC PRL
27 bronchiectasis 10.3 POMC PRL
28 cold-induced sweating syndrome 2 10.2 POMC PRL
29 cardiovascular organ benign neoplasm 10.2 POMC PRL
30 diabetes insipidus 10.2
31 acute myeloid leukemia, susceptibility, gata2-related 10.2 POMC PRL
32 psychogenic movement 10.2 POMC PRL
33 prediabetes syndrome 10.2 AQP2 AVP AVPR2
34 capillary disease 10.2 POMC PRL
35 adrenal cortex disease 10.2 POMC PRL
36 pediatric angiosarcoma 10.2 AQP2 POMC
37 fibrolamellar carcinoma 10.2 POMC PRL
38 vestibular gland benign neoplasm 10.2 POMC PRL
39 acute female pelvic peritonitis 10.1 POMC PRL
40 calcinosis 10.1 AQP2 AVP POMC
41 epileptic encephalopathy, early infantile, 26 10.0 AVPR2 GNRH1
42 prostate leiomyoma 10.0 GNRH1 PRL
43 adenomatoid tumor 10.0 GNRH1 PRL
44 immune system organ benign neoplasm 10.0 AVP POMC PRL
45 molybdenum cofactor deficiency b 10.0 AVP POMC PRL
46 male reproductive organ benign neoplasm 10.0 POMC PRL
47 internal hemorrhoid 10.0 GNRH1 PRL
48 pituitary adenoma, acth-secreting 9.9 POMC PRL
49 porokeratosis 9.9 GNRH1 PRL
50 deafness, autosomal dominant 6/14/38 9.9 AVP WFS1

Graphical network of the top 20 diseases related to Diabetes Insipidus, Neurohypophyseal:



Diseases related to Diabetes Insipidus, Neurohypophyseal

Symptoms & Phenotypes for Diabetes Insipidus, Neurohypophyseal

Symptoms via clinical synopsis from OMIM:

54

Facies:
hypertelorism
long philtrum
broad and short nose

Radiology:
decreased bone mineral density (bmd)

Endocrine:
neurohypophyseal diabetes insipidus

Lab:
arginine vasopressin deficiency
partial deficiency of oxytocin (ot) and its carrier protein, estrogen-stimulated neurophysin (esn)
decreased nerve cells of the supraoptic and paraventricular nuclei of the hypothalamus with associated mild gliosis
low serum osteocalcin


Clinical features from OMIM:

125700

Human phenotypes related to Diabetes Insipidus, Neurohypophyseal:

56 32 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 diarrhea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002014
3 headache 56 32 frequent (33%) Frequent (79-30%) HP:0002315
4 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 lethargy 56 32 frequent (33%) Frequent (79-30%) HP:0001254
6 depression 56 32 frequent (33%) Frequent (79-30%) HP:0000716
7 nocturia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000017
8 hyponatremia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002902
9 fever 56 32 frequent (33%) Frequent (79-30%) HP:0001945
10 diabetes insipidus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000873
11 dehydration 56 32 hallmark (90%) Very frequent (99-80%) HP:0001944
12 weight loss 56 32 hallmark (90%) Very frequent (99-80%) HP:0001824
13 polydipsia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001959
14 anxiety 56 32 frequent (33%) Frequent (79-30%) HP:0000739
15 anorexia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002039
16 nausea and vomiting 56 32 occasional (7.5%) Occasional (29-5%) HP:0002017
17 hypertelorism 32 HP:0000316
18 short nose 32 HP:0003196
19 hydronephrosis 32 HP:0000126
20 polyuria 32 HP:0000103
21 hypokalemia 32 HP:0002900
22 long philtrum 32 HP:0000343
23 osteopenia 32 HP:0000938
24 gliosis 32 HP:0002171
25 central diabetes insipidus 32 HP:0000863
26 wide nose 32 HP:0000445
27 somnolence 56 Frequent (79-30%)
28 abnormality of metabolism/homeostasis 32 HP:0001939
29 excessive daytime somnolence 32 frequent (33%) HP:0001262
30 alkalosis 32 HP:0001948

UMLS symptoms related to Diabetes Insipidus, Neurohypophyseal:


polyuria, polydipsia

MGI Mouse Phenotypes related to Diabetes Insipidus, Neurohypophyseal:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 AQP2 AVP AVPR2 LNPEP POMC PRL
2 homeostasis/metabolism MP:0005376 9.76 AVPR2 GNRH1 LNPEP POMC PRL WFS1
3 integument MP:0010771 9.43 AQP2 AVPR2 GNRH1 POMC PRL WFS1
4 renal/urinary system MP:0005367 9.02 AQP2 AVP AVPR2 GNRH1 POMC

Drugs & Therapeutics for Diabetes Insipidus, Neurohypophyseal

Drugs for Diabetes Insipidus, Neurohypophyseal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 163)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tolvaptan Approved Phase 4,Phase 3,Phase 2,Phase 1 150683-30-0 216237
2
Epinephrine Approved, Vet_approved Phase 4,Phase 3,Phase 2 51-43-4 5816
3 Racepinephrine Approved Phase 4,Phase 3,Phase 2
4
Misoprostol Approved Phase 4 59122-46-2 5282381
5
Conivaptan Approved, Investigational Phase 4 210101-16-9 151171
6
Furosemide Approved, Vet_approved Phase 4,Phase 2,Phase 3 54-31-9 3440
7 Arginine Vasopressin Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
8 Coagulants Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
9 Deamino Arginine Vasopressin Phase 4,Phase 3,Phase 2,Phase 1
10 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
11 Natriuretic Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
12 Vasopressins Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
13 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
14 Liver Extracts Phase 4
15 Vasoconstrictor Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
16 Adrenergic Agents Phase 4,Phase 3,Phase 2
17 Adrenergic Agonists Phase 4,Phase 3,Phase 2
18 Adrenergic alpha-Agonists Phase 4,Phase 3,Phase 2
19 Autonomic Agents Phase 4,Phase 3,Phase 2
20 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
21 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
22 Oxytocics Phase 4
23 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1
24 Adrenergic beta-Agonists Phase 4,Phase 3
25 Anti-Asthmatic Agents Phase 4,Phase 3
26 Bronchodilator Agents Phase 4,Phase 3
27 Epinephryl borate Phase 4,Phase 3,Phase 2
28 Mydriatics Phase 4,Phase 3
29 Respiratory System Agents Phase 4,Phase 3
30 Antacids Phase 4
31 Anti-Ulcer Agents Phase 4
32 diuretics Phase 4,Phase 2,Phase 3
33 Gastrointestinal Agents Phase 4,Early Phase 1
34 Sodium Potassium Chloride Symporter Inhibitors Phase 4,Phase 2,Phase 3
35 Factor VIII Phase 4
36 arginine Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
37
Norepinephrine Approved Phase 3,Phase 2 51-41-2 439260
38
Terlipressin Approved, Investigational Phase 2, Phase 3 14636-12-5 72081
39
Empagliflozin Approved Phase 2, Phase 3 864070-44-0
40
Midodrine Approved Phase 2, Phase 3 133163-28-7, 42794-76-3 4195
41
Spironolactone Approved Phase 2, Phase 3 1952-01-7, 52-01-7 5833
42
Ranolazine Approved, Investigational Phase 2, Phase 3 142387-99-3, 95635-55-5 56959
43
Fesoterodine Approved Phase 2, Phase 3 286930-02-7, 286930-03-8 6918558
44
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 11103-57-4, 68-26-8 445354
45 Hormone Antagonists Phase 3,Phase 2,Phase 1,Early Phase 1
46 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1,Early Phase 1
47 Hypoglycemic Agents Phase 2, Phase 3,Phase 1
48
Satavaptan Phase 3,Phase 2 185913-78-4 7029
49 Antihypertensive Agents Phase 2, Phase 3
50 Lypressin Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 200)

id Name Status NCT ID Phase Drugs
1 Pharmacokinetics and Pharmacodynamics of Desmopressin Oral Lyophilisate Formulation in the Paediatric Population Unknown status NCT02584231 Phase 4 desmopressin
2 Desmopressin for Improving Nocturnal Enuresis in Patients After Radical Cystectomy With Bladder Reconstruction Unknown status NCT01582542 Phase 4 Desmopressin
3 Desmopressin Melt Therapy in Nocturnal Polyuria Patients: Pharmacodynamic Study Unknown status NCT01439997 Phase 4 Desmopressin
4 Desmopressin for Bleeding Related to Low Body Temperature Unknown status NCT00902057 Phase 4 desmopressin;desmopressin;desmopressin;placebo
5 Tolvaptan for Hyponatremia in Cirrhotic Patients With Ascites Unknown status NCT01716611 Phase 4 Tolvaptan;placebo
6 Pilot Study of Using Copeptin to Predict Response to Tolvaptan Completed NCT01346072 Phase 4 tolvaptan
7 1-deamino 8-d-arginine Vasopressin (DDAVP) in Percutaneous Ultrasound-guided Renal Biopsy Completed NCT00748072 Phase 4 DDAVP;saline solution
8 Vasopressin and Epinephrine Versus Epinephrine Alone in Cardiac Arrest Completed NCT00127907 Phase 4 epinephrine (1 mg/1 mL);arginine-vasopressin (40 UI/2 mL)
9 Desmopressin in Cardiac Surgery Completed NCT00337766 Phase 4 Desmopressin (DDAVP);Placebo
10 Study of the Use of Misoprostol to Decrease Bleeding During a Myomectomy Completed NCT01700478 Phase 4 Misoprostol + vasopressin;Vasopressin
11 Desmopressin in the Treatment of Mixed Nocturia With Nocturnal Polyuria and Low Nocturnal Bladder Capacity Completed NCT00902655 Phase 4 Desmopressin
12 Desmopressin Melt: Impact on Sleep and Daytime Functioning Completed NCT01645475 Phase 4 Desmopressin lyophilisate (Melt)
13 Effects of Tolvaptan in Healthy Adults Completed NCT01973140 Phase 4 Tolvaptan;Hypertonic saline infusion
14 Effects on Exercise Hemodynamics of Vasopressin Blockade by Conivaptan Infusion in Heart Failure Patients Completed NCT01752543 Phase 4 Conivaptan;Placebo (Dextrose)
15 Effects of Desmopressin on Blood Loss and the Quality of the Surgical Field During Endoscopic Sinus Surgery Completed NCT02125188 Phase 4 Desmopressin;saline
16 Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement Surgery Completed NCT01994330 Phase 4 desmopressin
17 Desmopressin Melt Therapy in Patients With Nocturnal Polyuria: a Pharmacokinetic/Dynamic Study Completed NCT01435083 Phase 4 Desmopressin
18 Influence of Food-intake on Desmopressin Oral Tablets and MELT-formulation Completed NCT01036841 Phase 4 desmopressin tablet;desmopressin MELT formulation
19 A Study of Oral Desmopressin in Previously Untreated Children Aged 5 to 15 Years With Primary Nocturnal Enuresis Completed NCT00245479 Phase 4 Primary nocturnal enuresis
20 A 6-week Open Label Cross-over Study With 2 Different Daily Doses of Minirin® Oral Lyophilisate in Children and Adolescents With Primary Nocturnal Enuresis (PNE) Completed NCT00209261 Phase 4 MINIRIN Oral Lyophilisate;Minirin tablet
21 Vasopressin Administration During Laparoscopic Myomectomy: a Randomized Controlled Trial Completed NCT01393704 Phase 4 Vasopressin
22 Tolvaptan For Worsening Outpatient Heart Failure: Role of Copeptin In Identifying Responders Recruiting NCT02476409 Phase 4 tolvaptan
23 DDAVP vs. Exercise Recruiting NCT03136003 Phase 4 DDAVP intervention
24 Tolvaptan to Reduce Length of Stay in Hospitalized Patients With Cirrhosis and Hyponatremia Terminated NCT01890694 Phase 4 Tolvaptan;Placebo
25 Desmopressin as Treatment for Postoperative Bleeding After Cardiac Surgery Terminated NCT00885924 Phase 4 Desmopressin;Placebo
26 Effect of Desmopressin on the Nocturnal Micturition Frequency in Patients With Parkinson Disease Terminated NCT00806468 Phase 4 Desmotabs
27 Urinary Aquaporine 2 in Patients With Syndrome of Inappropriate ADH-secretion Caused by Treatment With Antiepileptic Medicine Withdrawn NCT00298753 Phase 4
28 Diuretic and Renal Effects of Vaprisol When Administered Along With Furosemide and Nesiritide Continuous Infusion Withdrawn NCT00806910 Phase 4 Conivaptan
29 Acute Heart Failure Patients With High Copeptin Treated With Tolvaptan Targets Increased AVP Activation for Treatment (ACTIVATE) Unknown status NCT01733134 Phase 3 Tolvaptan;placebo
30 Vasopressin Versus Norepinephrine for the Management of Shock After Cardiac Surgery Unknown status NCT01505231 Phase 3 Vasopressin;Norepinephrine
31 Vasopressin Versus Norepinephrine for the Management of Septic Shock in Cancer Patients Unknown status NCT01718613 Phase 3 Vasopressin;Norepinephrine
32 Efficacy and Safety Study of the Tolvaptan Tablets in Patients With Non-hypovolemic Non-acute Hyponatremia Unknown status NCT01507727 Phase 2, Phase 3 Tolvaptan;Placebo
33 A Study of Minirin Melt in Japanese Patients With Central Diabetes Insipidus (CDI). Completed NCT01280188 Phase 3 Desmopressin Oral Melt;Desmopressin intranasal
34 Vasopressin in Traumatic Hemorrhagic Shock Study Completed NCT00379522 Phase 2, Phase 3 Vasopressin;Saline placebo
35 Safety and Efficacy of SR121463B in Patients With Syndrome of Inappropriate Antidiuretic Hormone Secretion Completed NCT00264914 Phase 3 SR121463B
36 Efficacy and Safety of SR121463B in Patients With Syndrome of Inappropriate Antidiuretic Hormone Secretion Completed NCT00264927 Phase 3 SR121463B
37 Diet as a Potential Treatment for Autosomal Dominant Polycystic Kidney Disease Completed NCT02225860 Phase 2, Phase 3
38 Terlipressin in Septic Shock: Effects on Microcirculation Completed NCT00995839 Phase 2, Phase 3 continuous infusion of terlipressin;Arginine vasopressin;terlipressin bolus administration
39 Comparing Vasopressin and Adrenaline in Patients With Cardiac Arrest Completed NCT00358579 Phase 3 Adrenaline;Vasopressin
40 Effects of Empagliflozin an SGLT2-Inhibitor on Healthy Volunteers With Induced Hypotonic Hyponatremia - the DIVE Study Completed NCT02729766 Phase 2, Phase 3 Empagliflozin 25mg Tbl;Placebo P-Tablet
41 Role of Midodrine and Tolvaptan in Patients With Cirrhosis With Refractory or Recurrent Ascites Completed NCT02173288 Phase 2, Phase 3 Standard medical therapy;Tolvaptan;Midodrine
42 Reduction of Ischemic Myocardium With Ranolazine-Treatment in Patients With Acute Myocardial Ischemia Completed NCT01797484 Phase 2, Phase 3 Ranolazine
43 Trial of Desmopressin Orally Disintegrating Tablets (ODT) for Nocturia Due to Nocturnal Polyuria in Japanese Female Subjects Completed NCT02905682 Phase 3 Desmopressin;Placebo
44 Trial of Desmopressin Orally Disintegrating Tablets (ODT) for Nocturia Due to Nocturnal Polyuria in Japanese Male Subjects Completed NCT02904759 Phase 3 Desmopressin;Placebo
45 Study Investigating the Impact Burden of Nocturia Using the Nocturia Impact Diary Completed NCT01552343 Phase 3 Desmopressin;Placebo
46 Investigation of the Superiority Effect of Orally Disintegrating Desmopressin Tablets to Placebo in Terms of Night Voids Reduction in Nocturia Adult Male Patients Completed NCT01262456 Phase 3 Desmopressin;Placebo
47 Investigation of the Superiority Effect of Desmopressin to Placebo in Terms of Night Voids Reduction in Nocturia Adult Female Patients Completed NCT01223937 Phase 3 Desmopressin;Placebo
48 Study With Two Different Doses of Desmopressin Orally Lyophilisate Tablet With Nocturnal Enuresis Completed NCT01078753 Phase 3 Desmopressin;Placebo
49 An Extension Study Investigating the Efficacy and Safety of a Fast-Dissolving ("Melt") Formulation of Desmopressin for the Treatment of Nocturia in Adults Completed NCT00615836 Phase 3 Desmopressin Melt
50 Efficacy and Safety of Desmopressin Melt for the Treatment of Nocturia Completed NCT00477490 Phase 3 desmopressin acetate;Placebo

Search NIH Clinical Center for Diabetes Insipidus, Neurohypophyseal

Cochrane evidence based reviews: diabetes insipidus, neurogenic

Genetic Tests for Diabetes Insipidus, Neurohypophyseal

Genetic tests related to Diabetes Insipidus, Neurohypophyseal:

id Genetic test Affiliating Genes
1 Neurohypophyseal Diabetes Insipidus 29 24 AVP
2 Diabetes Insipidus, Neurohypophyseal Type 29

Anatomical Context for Diabetes Insipidus, Neurohypophyseal

MalaCards organs/tissues related to Diabetes Insipidus, Neurohypophyseal:

39
Pituitary, Kidney, Brain, Heart, Testes, Liver, Bone

Publications for Diabetes Insipidus, Neurohypophyseal

Articles related to Diabetes Insipidus, Neurohypophyseal:

id Title Authors Year
1
Gene symbol: AVP. Disease: Diabetes Insipidus, neurohypophyseal. ( 20960625 )
2008
2
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0561. ( 17297717 )
2006
3
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0560. ( 17297716 )
2006
4
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0559. ( 17297715 )
2006
5
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0558. ( 17297714 )
2006

Variations for Diabetes Insipidus, Neurohypophyseal

UniProtKB/Swiss-Prot genetic disease variations for Diabetes Insipidus, Neurohypophyseal:

71 (show all 39)
id Symbol AA change Variation ID SNP ID
1 AVP p.Ser17Phe VAR_004980
2 AVP p.Ala19Thr VAR_004981 rs387906511
3 AVP p.Ala19Val VAR_004982 rs387906512
4 AVP p.Gly45Arg VAR_004983
5 AVP p.Gly48Val VAR_004984 rs121964883
6 AVP p.Arg51Cys VAR_004985
7 AVP p.Pro55Leu VAR_004986
8 AVP p.Glu78Gly VAR_004988
9 AVP p.Leu81Pro VAR_004989
10 AVP p.Gly88Arg VAR_004990
11 AVP p.Gly88Ser VAR_004991 rs121964882
12 AVP p.Cys92Ser VAR_004992
13 AVP p.Gly93Trp VAR_004993 rs121964885
14 AVP p.Gly96Cys VAR_004994
15 AVP p.Tyr21His VAR_015262 rs121964893
16 AVP p.Pro26Leu VAR_015263 rs142886338
17 AVP p.Cys52Arg VAR_015264
18 AVP p.Gly54Arg VAR_015265 rs121964888
19 AVP p.Gly54Val VAR_015266 rs121964887
20 AVP p.Cys59Arg VAR_015267
21 AVP p.Cys59Tyr VAR_015268
22 AVP p.Ser87Phe VAR_015269 rs121964890
23 AVP p.Cys92Tyr VAR_015270 rs121964891
24 AVP p.Gly96Val VAR_015271 rs121964886
25 AVP p.Arg97Cys VAR_015272
26 AVP p.Arg97Pro VAR_015273
27 AVP p.Cys98Gly VAR_015274
28 AVP p.Cys104Phe VAR_015275
29 AVP p.Cys105Arg VAR_015276
30 AVP p.Cys116Gly VAR_015277 rs74315383
31 AVP p.Cys116Arg VAR_015278
32 AVP p.Cys105Tyr VAR_015279
33 AVP p.Val67Ala VAR_019273 rs28934878
34 AVP p.Gly96Asp VAR_019274
35 AVP p.Cys104Gly VAR_019275
36 AVP p.Cys116Trp VAR_019276
37 AVP p.Cys58Phe VAR_029997
38 AVP p.Cys98Ser VAR_029998
39 AVP p.Ala99Pro VAR_029999

ClinVar genetic disease variations for Diabetes Insipidus, Neurohypophyseal:

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1 AVP NM_000490.4(AVP): c.262G> A (p.Gly88Ser) single nucleotide variant Pathogenic rs121964882 GRCh37 Chromosome 20, 3063683: 3063683
2 AVP NM_000490.4(AVP): c.143G> T (p.Gly48Val) single nucleotide variant Pathogenic rs121964883 GRCh37 Chromosome 20, 3063802: 3063802
3 AVP NM_000490.4(AVP): c.55G> A (p.Ala19Thr) single nucleotide variant Pathogenic rs387906511 GRCh37 Chromosome 20, 3065266: 3065266
4 AVP AVP, 3-BP DEL, NT1824 deletion Pathogenic
5 AVP NM_000490.4(AVP): c.294C> A (p.Cys98Ter) single nucleotide variant Pathogenic rs121964884 GRCh37 Chromosome 20, 3063651: 3063651
6 AVP NM_000490.4(AVP): c.277G> T (p.Gly93Trp) single nucleotide variant Pathogenic rs121964885 GRCh37 Chromosome 20, 3063668: 3063668
7 AVP AVP, 1-BP DEL, 227G deletion Pathogenic
8 AVP NM_000490.4(AVP): c.287G> T (p.Gly96Val) single nucleotide variant Pathogenic rs121964886 GRCh37 Chromosome 20, 3063658: 3063658
9 AVP NM_000490.4(AVP): c.56C> T (p.Ala19Val) single nucleotide variant Pathogenic rs387906512 GRCh37 Chromosome 20, 3065265: 3065265
10 AVP NM_000490.4(AVP): c.161G> T (p.Gly54Val) single nucleotide variant Pathogenic rs121964887 GRCh37 Chromosome 20, 3063784: 3063784
11 AVP NM_000490.4(AVP): c.160G> C (p.Gly54Arg) single nucleotide variant Pathogenic rs121964888 GRCh37 Chromosome 20, 3063785: 3063785
12 AVP NM_000490.4(AVP): c.337G> T (p.Glu113Ter) single nucleotide variant Pathogenic rs121964889 GRCh37 Chromosome 20, 3063434: 3063434
13 AVP NM_000490.4(AVP): c.260C> T (p.Ser87Phe) single nucleotide variant Pathogenic rs121964890 GRCh37 Chromosome 20, 3063685: 3063685
14 AVP NM_000490.4(AVP): c.275G> A (p.Cys92Tyr) single nucleotide variant Pathogenic rs121964891 GRCh37 Chromosome 20, 3063670: 3063670
15 AVP NM_000490.4(AVP): c.200T> C (p.Val67Ala) single nucleotide variant Pathogenic rs28934878 GRCh37 Chromosome 20, 3063745: 3063745
16 AVP NM_000490.4(AVP): c.346T> G (p.Cys116Gly) single nucleotide variant Pathogenic rs74315383 GRCh37 Chromosome 20, 3063425: 3063425
17 AVP NM_000490.4(AVP): c.61T> C (p.Tyr21His) single nucleotide variant Pathogenic rs121964893 GRCh37 Chromosome 20, 3065260: 3065260
18 AVP AVP, 3-BP DEL, PHE3DEL deletion Pathogenic
19 AVP NM_000490.4(AVP): c.131G> T (p.Cys44Phe) single nucleotide variant Likely pathogenic rs1057516192 GRCh38 Chromosome 20, 3083168: 3083168

Expression for Diabetes Insipidus, Neurohypophyseal

Search GEO for disease gene expression data for Diabetes Insipidus, Neurohypophyseal.

Pathways for Diabetes Insipidus, Neurohypophyseal

GO Terms for Diabetes Insipidus, Neurohypophyseal

Cellular components related to Diabetes Insipidus, Neurohypophyseal according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.13 AVP GNRH1 WFS1
2 clathrin-coated vesicle membrane GO:0030665 8.62 AVP AVPR2

Biological processes related to Diabetes Insipidus, Neurohypophyseal according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.91 AVP AVPR2 GNRH1 LNPEP POMC
2 membrane organization GO:0061024 9.54 AVP AVPR2 LNPEP
3 regulation of blood pressure GO:0008217 9.52 LNPEP POMC
4 positive regulation of protein ubiquitination GO:0031398 9.49 AVPR2 WFS1
5 generation of precursor metabolites and energy GO:0006091 9.48 AVP POMC
6 excretion GO:0007588 9.46 AQP2 AVPR2
7 response to testosterone GO:0033574 9.43 AVP GNRH1
8 female pregnancy GO:0007565 9.43 GNRH1 LNPEP PRL
9 positive regulation of vasoconstriction GO:0045907 9.4 AVP AVPR2
10 water transport GO:0006833 9.32 AQP2 AVP
11 cell-cell signaling GO:0007267 9.26 AVP GNRH1 LNPEP POMC
12 positive regulation of systemic arterial blood pressure GO:0003084 9.16 AVP AVPR2
13 renal water homeostasis GO:0003091 8.92 AQP2 AVP AVPR2 WFS1

Molecular functions related to Diabetes Insipidus, Neurohypophyseal according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 peptide binding GO:0042277 9.16 AVPR2 LNPEP
2 hormone activity GO:0005179 8.92 AVP GNRH1 POMC PRL
3 neuropeptide hormone activity GO:0005184 8.65 AVP

Sources for Diabetes Insipidus, Neurohypophyseal

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