Diabetes Insipidus

Categories: Endocrine diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Diabetes Insipidus

MalaCards integrated aliases for Diabetes Insipidus:

Name: Diabetes Insipidus 11 75 28 5 41 43 14 71 31


External Ids:

Disease Ontology 11 DOID:9409
ICD9CM 34 253.5
MeSH 43 D003919
NCIt 49 C43263
SNOMED-CT 68 190484000
ICD10 31 E23.2
UMLS 71 C0011848

Summaries for Diabetes Insipidus

MedlinePlus: 41 Diabetes insipidus (DI) causes frequent urination. You become extremely thirsty, so you drink. Then you urinate. This cycle can keep you from sleeping or even make you wet the bed. Your body produces lots of urine that is almost all water. DI is different from diabetes mellitus (DM), which involves insulin problems and high blood sugar. The symptoms can be similar. However, DI is related to how your kidneys handle fluids. It's much less common than DM. Urine and blood tests can show which one you have. Usually, DI is caused by a problem with your pituitary gland or your kidneys. Treatment depends on the cause of the problem. Medicines can often help. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

MalaCards based summary: Diabetes Insipidus is related to wolfram syndrome and central diabetes insipidus. An important gene associated with Diabetes Insipidus is AVP (Arginine Vasopressin), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Neuroscience. The drugs Tolvaptan and Midazolam have been mentioned in the context of this disorder. Affiliated tissues include pituitary, kidney and liver, and related phenotypes are homeostasis/metabolism and nervous system

Disease Ontology: 11 A kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration.

Wikipedia: 75 Diabetes insipidus (DI), recently renamed to Arginine Vasopressin Deficiency (AVP-D) and Arginine... more...

Related Diseases for Diabetes Insipidus

Diseases in the Diabetes Insipidus family:

Central Diabetes Insipidus Hereditary Central Diabetes Insipidus
Acquired Central Diabetes Insipidus

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

(show top 50) (show all 1134)
# Related Disease Score Top Affiliating Genes
1 wolfram syndrome 33.2 WFS1 INS CISD2
2 central diabetes insipidus 33.0 PRL POMC OXT NPTX2 AVPR2 AVP
3 wolfram syndrome 1 32.9 WFS1 INS CISD2
4 diabetes insipidus, neurohypophyseal 32.8 REN POMC OXT NPTX2 AVPR2 AVPR1B
5 dipsogenic diabetes insipidus 32.8 WFS1 NPTX2 AVPR2 AVP AQP2
6 nephrogenic diabetes insipidus 32.7 SLC12A1 REN OXT MIP CLCNKA AVPR2
7 gestational diabetes insipidus 32.6 WFS1 NPTX2 AVPR2 AVP AQP3 AQP2
8 x-linked nephrogenic diabetes insipidus 32.6 SLC12A1 AVPR2 AVP ARHGAP4 AQP3 AQP2
9 nelson syndrome 31.9 PRL POMC CRH
10 hypopituitarism 31.5 PRL POMC INS CRH
11 hydronephrosis 31.5 WFS1 SLC12A1 REN AQP2
12 pituitary hormone deficiency, combined, 2 31.4 PRL POMC AVP
13 premature ovarian failure 7 31.3 POMC CRH
14 renal tubular acidosis 31.3 SLC12A1 REN AQP2
15 empty sella syndrome 31.2 PRL POMC INS
16 diabetes mellitus 31.2 WFS1 REN PRL POMC OXT INS
17 pituitary gland disease 31.1 PRL POMC INS CRH AVPR2 AVP
18 urinary tract obstruction 31.1 REN AVPR2 AQP2
19 adenoma 31.0 REN PRL POMC CRH
20 hyperprolactinemia 31.0 PRL POMC INS
21 septooptic dysplasia 31.0 PRL POMC AVP
22 sheehan syndrome 31.0 PRL POMC INS CRH AVP
23 pituitary apoplexy 30.9 PRL POMC INS AVP
24 hypothyroidism 30.9 REN PRL POMC INS
25 bartter disease 30.8 SLC12A1 REN CLCNKA AVPR2 AVP AQP2
26 hypokalemia 30.8 SLC12A1 REN POMC INS CRH AVPR2
27 pituitary-dependent cushing's disease 30.8 PRL POMC CRH
28 hypoglycemia 30.8 PRL POMC OXT INS CRH
29 amenorrhea 30.7 PRL POMC OXT INS CRH
30 nephrogenic syndrome of inappropriate antidiuresis 30.7 SLC12A1 OXT AVPR2 AVP AQP2
31 oligohydramnios 30.7 REN OXT AQP3
32 neurogenic bladder 30.7 WFS1 INS CISD2 AVP
33 acromegaly 30.7 PRL POMC INS CRH
34 hypoadrenocorticism, familial 30.7 REN POMC CRH
35 neurotic disorder 30.6 POMC OXT INS CRH
36 inappropriate adh syndrome 30.6 REN PRL POMC OXT CRH AVPR2
37 lung oat cell carcinoma 30.5 POMC AVP
38 polycystic kidney disease 30.5 REN INS AVPR2 AVP AQP2
39 liver cirrhosis 30.5 REN INS AVP AQP2
40 mood disorder 30.5 WFS1 POMC OXT CRH
41 bartter syndrome, type 1, antenatal 30.5 SLC12A1 CLCNKA AQP2
42 sphenoid sinusitis 30.5 POMC AVP
43 leptin deficiency or dysfunction 30.5 POMC OXT INS CRH
44 functioning pituitary adenoma 30.5 PRL POMC CRH
45 chromophobe adenoma 30.5 PRL POMC
46 hyperthyroidism 30.5 REN PRL POMC INS
47 polycystic kidney disease 1 with or without polycystic liver disease 30.4 SLC12A1 REN AQP2
48 pain agnosia 30.4 POMC OXT INS CRH
49 polyhydramnios 30.3 SLC12A1 REN OXT INS CLCNKA AQP3
50 prolactinoma 30.3 PRL POMC INS

Comorbidity relations with Diabetes Insipidus via Phenotypic Disease Network (PDN):

Acute Cystitis Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypothyroidism Pituitary Hormone Deficiency, Combined, 2

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

Diseases related to Diabetes Insipidus

Symptoms & Phenotypes for Diabetes Insipidus

MGI Mouse Phenotypes related to Diabetes Insipidus:

# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.25 AQP2 AQP3 AQP4 AVP AVPR1B AVPR2
2 nervous system MP:0003631 10.18 AQP4 ARHGAP4 AVP AVPR1B CISD2 CRH
3 renal/urinary system MP:0005367 10.18 AQP2 AQP3 AQP4 AVP AVPR2 CISD2
4 growth/size/body region MP:0005378 10.07 AQP2 AQP3 AQP4 AVPR2 CISD2 CLCNKA
5 behavior/neurological MP:0005386 9.89 AQP2 AQP3 AQP4 AVP AVPR1B AVPR2
6 endocrine/exocrine gland MP:0005379 9.85 AQP4 AVPR1B CISD2 CLCNKA CRH INS
7 integument MP:0010771 9.32 AQP2 AVPR2 CISD2 CLCNKA CRH INS

Drugs & Therapeutics for Diabetes Insipidus

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

(show top 50) (show all 110)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Tolvaptan Approved Phase 4 150683-30-0 216237
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
Exenatide Approved, Investigational Phase 4 141758-74-9 45588096
Hydrocortisone succinate Approved Phase 4 2203-97-6 3643
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 3640 5754
Lithium carbonate Approved Phase 4 554-13-2
Amiloride Approved Phase 4 17440-83-4, 2016-88-8, 2609-46-3 16231
9 Hemostatics Phase 4
10 Deamino Arginine Vasopressin Phase 4
11 Coagulants Phase 4
12 Hormones Phase 4
13 Vasoconstrictor Agents Phase 4
14 Anesthetics, General Phase 4
15 Anesthetics Phase 4
16 Pharmaceutical Solutions Phase 4
17 Neurotransmitter Agents Phase 4
18 Psychotropic Drugs Phase 4
19 Anti-Anxiety Agents Phase 4
20 Anesthetics, Intravenous Phase 4
21 Hypnotics and Sedatives Phase 4
22 GABA Modulators Phase 4
23 Hormone Antagonists Phase 4
24 Glucagon-Like Peptide 1 Phase 4
25 Incretins Phase 4
26 Anti-Obesity Agents Phase 4
27 Corticotropin-Releasing Hormone Phase 4
28 Hydrocortisone 17-butyrate 21-propionate Phase 4
29 Sodium Channel Blockers Phase 4
30 Diuretics, Potassium Sparing Phase 4
31 diuretics Phase 4
Satavaptan Investigational Phase 3 185913-78-4 158348
Atorvastatin Approved Phase 2 134523-00-5 60823
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
Tannic acid Approved Phase 2 1401-55-4 16129878 16129778
Dulaglutide Approved, Investigational Phase 2 923950-08-7
37 Hypoglycemic Agents Phase 2
38 Antimetabolites Phase 2
39 Hypolipidemic Agents Phase 2
40 Anticholesteremic Agents Phase 2
41 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
42 Lipid Regulating Agents Phase 2
Metformin Approved Phase 1 1115-70-4, 657-24-9 4091
Chlorpropamide Approved, Investigational 94-20-2 2727
Indomethacin Approved, Investigational 53-86-1 3715
Sodium citrate Approved, Investigational 68-04-2 23431961
Hydrochlorothiazide Approved, Vet_approved 58-93-5 3639
Sildenafil Approved, Investigational 139755-83-2, 171599-83-0 5212 135398744
Salmon calcitonin Approved, Investigational 47931-85-1 155817456
Chlorothiazide Approved, Vet_approved 58-94-6 2720

Interventional clinical trials:

(show top 50) (show all 81)
# Name Status NCT ID Phase Drugs
1 1-deamino 8-d-arginine Vasopressin in Percutaneous Ultrasound-guided Renal Biopsy: a Randomized Controlled Trial Completed NCT00748072 Phase 4 DDAVP;saline solution
2 Tolvaptan Treatment to Reverse Worsening Outpatient Heart Failure: Possible Role of Copeptin In Identifying Responders (TROUPER) Completed NCT02476409 Phase 4 tolvaptan
3 Pilot Study of the Relationship of Ambient Copeptin to the Aquaretic Effects of Tolvaptan in Patients With Heart Failure Completed NCT01346072 Phase 4 tolvaptan
4 The Effect of Midazolam Premedication on Copeptine Concentration in Blood Completed NCT03474939 Phase 4 Midazolam Oral Tablet
5 Identification and Clinical Relevance of an Oxytocin Deficient State: a Randomized, Crossover, Placebo-controlled, Proof-of-concept, Physiopathological Study (GLP1 Study) Recruiting NCT04897802 Phase 4 Experimental: GLP1-RA (exenatide) administration;Control: Placebo administration
6 Identification and Clinical Relevance of an Oxytocin Deficient State: a Randomized, Crossover, Placebo-controlled, Proof-of-concept Physiopathological Study (CRH Study) Recruiting NCT04902235 Phase 4 Experimental: CRH administration;Control: Placebo administration
7 AMIloride for the Treatment of Nephrogenic Diabetes Insipidus for Patients With Bipolar Disorder Treated With Lithium: a Randomized Controlled Trial Not yet recruiting NCT05044611 Phase 4 Anhydrous Amiloride Hydrochloride;Placebo
8 Acute Heart Failure With High Copeptin Levels Treated With Tolvaptan Targets Increased AVP Activation for Treatment Efficacy Unknown status NCT01733134 Phase 3 Tolvaptan;placebo
9 Peroral Administration of Different Doses of Desmopressin Administered as a New Orally-Disintegrating Tablet and Desmopressin for Nasal Administration in the Treatment of CDI in Japanese Patients Completed NCT01280188 Phase 3 Desmopressin Oral Melt;Desmopressin intranasal
10 A Multicenter, Uncontrolled, Open-label, Dose-titration Trial to Investigate the Efficacy and Safety of Tolvaptan Tablets in Patients With Hyponatremia in Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH) Completed NCT03048747 Phase 3 Tolvaptan Oral Tablet
11 A Randomized, Double-Blind, Placebo-Group, Multicenter Study Evaluating the Efficacy and Safety of SR121463B in Patients With Syndrome of Inappropriate Antidiuretic Hormone Secretion Completed NCT00264927 Phase 3 SR121463B
12 An Open-Label, Multicenter Study Evaluating the Long-Term Safety and Efficacy of SR121463B in Patients With Syndrome of Inappropriate Antidiuretic Hormone Secretion Completed NCT00264914 Phase 3 SR121463B
13 Atorvastatin for the Treatment of Lithium-Induced Nephrogenic Diabetes Insipidus: A Randomized Controlled Trial Completed NCT02967653 Phase 2 Atorvastatin
14 A Phase 1b, Multicenter, Pilot, Randomized, Double-blind Trial to Determine the Pharmacokinetics and Pharmacodynamics of Orally Administered Tolvaptan 3.75, 7.5, and 15 mg Tablets in Subjects With Syndrome of Inappropriate Antidiuretic Hormone Secretion Completed NCT02009878 Phase 1, Phase 2 tolvaptan
15 Effects of GLP-1 Analogues on Fluid Intake in Patients With Primary Polydipsia: "The GOLD-Study" Completed NCT02770885 Phase 2 Dulaglutide;Placebo
16 A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Dose-Escalation, Multicenter Study Evaluating the Efficacy and Safety of SR121463B in Patients With Syndrome of Inappropriate Antidiuretic Hormone Secretion. Completed NCT00032734 Phase 2 satavaptan (SR121463B)
17 AVERT Shock: Arginine Vasopressin During the Early Resuscitation of Traumatic Shock Completed NCT01611935 Phase 2 Vasopressin
18 A Multi-center, Open-Label, Exploratory Study to Assess the Efficacy of PB in Decreasing the Urine Output and Increasing the Urine Osmolality in Patients With Hereditary Nephrogenic Diabetes Insipidus, Patients With Autosomal Dominant Polycystic Kidney Disease Treated With Tolvaptan, And Severely Polyuric Patients With Previous Lithium Administration (Serendipity-PB1) Recruiting NCT05190744 Phase 2 PB
19 Effects of Intranasal Oxytocin in Patients With Central Diabetes Insipidus - A Pilot Study Not yet recruiting NCT04789148 Phase 1 Oxytocin nasal spray
20 Use of Metformin to Treat Patients With Congenital Nephrogenic Diabetes Insipidus (NDI) Terminated NCT02460354 Phase 1 Metformin
21 Study of Novel Types of Familial Diabetes Insipidus Unknown status NCT00004364 desmopressin
22 Perioperative Copeptin: Predictive Value and Risk Stratification in Patients Undergoing Major Surgery Unknown status NCT02687776
23 Study of Prognostic Value of Copeptin for Myocardial Infarct Size and 6-month Prognosis in Patients With ST-elevation Myocardial Infarction Undergoing Percutaneous Coronary Intervention: GOOD I Study Unknown status NCT03074214
24 Evaluation of Copeptin in Patients With Cirrhosis and Ascites Unknown status NCT03318601
25 Diagnostic Utility of Copeptin in Addition to High-sensitivity Cardiac Troponin for the Early Diagnosis of Non-ST-Elevation Acute Coronary Syndromes - The COPACS Study Unknown status NCT01962506
26 Study of the Pathogenesis and Pathophysiology of Familial Neurohypophyseal Diabetes Insipidus Completed NCT00004363 chlorpropamide;desmopressin
27 Pharmacologic Treatment of Congenital Nephrogenic Diabetes Insipidus Completed NCT00478335 sildenafil;calcitonin;hydrochlorothiazide/amiloride;indomethacin;Placebo for sildenafil;placebo for calcitonin
28 Copeptin as a Biomarker for Central Diabetes Insipidus Development Following Pituitary Surgery Completed NCT04369703
29 Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus Completed NCT00004360 chlorothiazide
30 Copeptin After a Subcutaneous Stimulation With Glucagon in Adults (Healthy Volunteers and Patients With Diabetes Insipidus or Primary Polydipsia) - The Glucacop-Study Completed NCT04550520
31 Copeptin in the Diagnosis and Differential Diagnosis of Diabetes Insipidus. The CoSIP-Study Completed NCT00757276
32 Use of Copeptin in the Differential Diagnosis of Diabetes insipidus-a Prospective International Study Completed NCT01940614
33 Circulating Oxytocin Changes in Response to the Oxytocin System Stimulator MDMA in Patients With Diabetes Insipidus and Healthy Controls Completed NCT04648137
34 Use of Copeptin Measurement After Arginine Infusion for the Differential Diagnosis of Diabetes Insipidus - the CARGOx Study Completed NCT03572166
35 Peer Support to Enhance Diabetes Shared Medical Appointments: Examining Comparative Effectiveness in VA Health Systems Completed NCT02132676
36 Urinary AQP2 Excretion in Hypercholesterolemic Patients as a Measure of Effect of Statin Therapy Completed NCT02523001
37 Tracking Neurodegeneration in Early Wolfram Syndrome Completed NCT02455414
38 Fetal Copeptin After Oxytocin Challenge Test Completed NCT01962701
39 Copeptin During a Standardized Psychological Stress Test Completed NCT01866137
40 Prognostic Value of Copeptin Level Before Cardiac Surgery and Involvement in Systemic Inflammatory Response Syndrome After Cardiopulmonary Bypass Completed NCT03288610
41 Copeptin as a Novel Diagnostic and Prognostic Marker in the Management of Neurological and Neurosurgical Patients With Sodium Imbalance The "COSMOS"-Study (Copeptin in Osmoregulation and Stress Assessment) Completed NCT00390962
42 Kinetics of Copeptin in Healthy Volunteers - a Prospective International Study Completed NCT02647736
43 Regulation of Arginine-vasopressin (AVP) in Psychiatric Disorders Completed NCT02626832
44 Serial Vasopressin and Copeptin Levels in Children With Sepsis and Septic Shock Completed NCT00698048
45 Serum Copeptin as a Predictor of the Risk of Hyponatremia After Transurethral Prostatectomy Completed NCT03912766
46 Copeptin After an Oral Stimulation With Macimorelin in Healthy Volunteers - The Macicop-Study Completed NCT03844217 Macimorelin 0.5mg/kg body weight;Macimorelin 0.75mg/kg body weight
47 The Circadian Rhythm of Copeptin Completed NCT02604875
48 Proadrenomedullin and Copeptin as Predictors of Vasopressor Requirements and Volume Resuscitation in Patients With Septic Shock Completed NCT03104933
49 The Influence of Water and Salt Intake on Copeptin Levels During Moderate Alcohol Consumption - a Pathophysiological Study Completed NCT03883503
50 Evaluation of Serum Copeptin and Psychological Stress Level Among Healthcare Providers During COVID-19 Pandemic Completed NCT04757285

Search NIH Clinical Center for Diabetes Insipidus

Inferred drug relations via UMLS 71 / NDF-RT 50 :

Desmopressin Acetate
Vasopressin (USP)

Cochrane evidence based reviews: diabetes insipidus

Genetic Tests for Diabetes Insipidus

Genetic tests related to Diabetes Insipidus:

# Genetic test Affiliating Genes
1 Diabetes Insipidus 28

Anatomical Context for Diabetes Insipidus

Organs/tissues related to Diabetes Insipidus:

MalaCards : Pituitary, Kidney, Liver, Heart, Lung, Brain, Hypothalamus

Publications for Diabetes Insipidus

Articles related to Diabetes Insipidus:

(show top 50) (show all 9303)
# Title Authors PMID Year
Central diabetes insipidus. 62 5
28008190 2016
Changing the name of diabetes insipidus: a position statement of The Working Group for Renaming Diabetes Insipidus. 62 41
36244744 2022
Analysis of thyroid involvement in children and adult Langerhans cell histiocytosis: An underestimated endocrine manifestation. 62 41
36246871 2022
Relationship between postoperative hypothalamic injury and water and sodium disturbance in patients with craniopharyngioma: A retrospective study of 178 cases. 62 41
36120435 2022
Characterization of dietary and herbal sourced natural compounds that modulate SEL1L-HRD1 ERAD activity and alleviate protein misfolding in the ER. 62
36228974 2023
The clinical and metabolic characteristics of children and adolescents with hypothalamic dysfunction: A single-centre study from China. 62
35978545 2023
Mechanistic insights into the primary and secondary alterations of renal ion and water transport in the distal nephron. 62
35909256 2023
Endocrine outcomes after limited surgery and conformal photon radiation therapy for pediatric craniopharyngioma: Long-term results from the RT1 protocol. 62
35481829 2022
Wolfram syndrome in a young woman with associated hypergonadotropic hypogonadism - A case report. 62
36100371 2022
Outcomes of endoscopic endonasal resection of pediatric craniopharyngiomas. 62
35485414 2022
Bifocal pineal and suprasellar germinomas with posterior fossa metastases in an adolescent patient. 62
36189158 2022
Diagnosis of Langerhans cell histiocytosis on cytological examination of cerebrospinal fluid: Report of the first case. 62
35950687 2022
Posterior hypothalamic involvement on pre-operative MRI predicts hypothalamic obesity in craniopharyngiomas. 62
36462067 2022
Machine learning-based algorithm as an innovative approach for the differentiation between diabetes insipidus and primary polydipsia in clinical practice. 62
36201166 2022
Central Diabetes Insipidus Due to IgG4-related Hypophysitis That Required over One Year to Reach the Final Diagnosis Due to Symptoms Being Masked by Sialadenitis. 62
35569983 2022
Infection with SARS-CoV-2 may alter the half-life of desmopressin (DDAVP) in patients with central diabetes insipidus. 62
36240057 2022
Serum copeptin levels at day two after pituitary surgery and ratio to baseline predict postoperative central diabetes insipidus. 62
36322283 2022
Idiopathic central diabetes insipidus in a large cohort of patients: the hypopituitarism ENEA rare observational (HEROS) study. 62
36260240 2022
Changing the name of diabetes insipidus. 62
36334185 2022
Erdheim-Chester disease: Typical radiologic findings of a multisystemic disease. 62
36263330 2022
Postoperative fluid restriction to prevent hyponatremia after transsphenoidal pituitary surgery: An updated meta-analysis and critique. 62
36369079 2022
Effect of Tolvaptan in Patients with Chronic Kidney Disease Stage G5, and Impact of Concomitant Use of Thiazide Diuretics: A Retrospective Cohort Study. 62
35962921 2022
Endoscopic pituitary surgery: National database review. 62
36039744 2022
Exoscopic vs. microscopic transsphenoidal surgery for Cushing's disease: a retrospective single-center study on 388 patients. 62
36136255 2022
The outcomes of surgical treatment via transsphenoidal approach for patients with nonfunctioning pituitary adenoma: a single institution's experience. 62
36331312 2022
The Cost Effectiveness of Implementation of a Postoperative Endocrinopathy Management Protocol after Resection of Pituitary Adenomas. 62
36393880 2022
Low preoperative serum prealbumin levels and risk of postoperative complications after transsphenoidal surgery in nonfunctioning pituitary adenoma. 62
36455266 2022
Effect of pituitary adenoma consistency on surgical outcomes in patients undergoing endonasal endoscopic transsphenoidal surgery. 62
35962896 2022
Impact of surgical factors on delayed hyponatremia in patients with nonfunctioning pituitary adenoma after endonasal endoscopic transsphenoidal procedure. 62
35984619 2022
Polyuria in patients with lower urinary tract symptoms: Prevalence and etiology. 62
36317410 2022
Diagnostic and therapeutic approach to hypernatremia. 62
35918296 2022
Starting point for benchmarking outcomes and reporting of pituitary adenoma surgery within the European Reference Network on Rare Endocrine Conditions (Endo-ERN): results from a meta-analysis and survey study. 62
36327151 2022
Genetic basis of nephrogenic diabetes insipidus. 62
36460218 2022
Genetic deletion of the nuclear factor of activated T cells 5 in collecting duct principal cells causes nephrogenic diabetes insipidus. 62
36197017 2022
Change in the pituitary stalk deviation angle after transsphenoidal surgery can predict the development of diabetes insipidus for pituitary adenomas. 62
36103145 2022
Patients' insights into diabetes insipidus. 62
36085414 2022
A dog carrying mutations in AVP-NPII exhibits key features of central diabetes insipidus. 62
36400367 2022
Syndrome of inappropriate antidiuresis and diabetes insipidus as two sides of the same coin in hypothalamic lymphoma: A case report. 62
36424791 2022
Changing the name of diabetes insipidus: a position statement of The Working Group for Renaming Diabetes Insipidus. 62
36228658 2022
Changing the name of diabetes insipidus: a position statement of The Working Group for Renaming Diabetes Insipidus. 62
36239119 2022
Mineralocorticoids induce polyuria by reducing apical aquaporin-2 expression of the kidney in partial vasopressin deficiency. 62
36450452 2022
Changing the name of diabetes insipidus: a position statement of the working group to consider renaming diabetes insipidus. 62
36219203 2022
Changing the Name of Diabetes Insipidus: A Position Statement of the Working Group for Renaming Diabetes Insipidus. 62
36355385 2022
Recovery of diabetes insipidus after Chiari malformation decompression: A rare manifestation of Chiari malformation. 62
36447669 2022
Delay in desmopressin therapy: Disaster in waiting. 62
36376238 2022
[Hypernatremia and polyuria in a female patient with an initial diagnosis of secondary acute myeloid leukemia]. 62
35925122 2022
Comprehensive analysis of clinical and laboratory features of 440 published cases of Sjögren's syndrome and renal tubular acidosis. 62
36324184 2022
Rare presentation of multiple thromboses in Erdheim-Chester disease: a case-based review. 62
35687294 2022
The importance of preserving the superior hypophyseal artery infundibular branch in craniopharyngioma surgery. 62
36355231 2022
Neuroimaging in Pediatric Patients with Juvenile Xanthogranuloma of the CNS. 62
36265894 2022

Variations for Diabetes Insipidus

ClinVar genetic disease variations for Diabetes Insipidus:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AVP NM_000490.5(AVP):c.329G>A (p.Cys110Tyr) SNV Likely Pathogenic
383370 rs1057521601 GRCh37: 20:3063442-3063442
GRCh38: 20:3082796-3082796
2 MATN4 NM_001393530.1(MATN4):c.515G>C (p.Gly172Ala) SNV Likely Pathogenic
183295 rs730882210 GRCh37: 20:43932996-43932996
GRCh38: 20:45304356-45304356

Expression for Diabetes Insipidus

Search GEO for disease gene expression data for Diabetes Insipidus.

Pathways for Diabetes Insipidus

Pathways related to Diabetes Insipidus according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
2 12.31 WFS1 SLC12A1 POMC AVP
3 12.24 WFS1 INS CISD2 AQP2
Show member pathways
Show member pathways
Show member pathways
7 11.32 POMC OXT INS
8 10.63 PRL POMC INS
9 10.25 POMC CRH
Show member pathways

GO Terms for Diabetes Insipidus

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

# Name GO ID Score Top Affiliating Genes
1 secretory granule GO:0030141 9.23 WFS1 POMC OXT AVP

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.01 SLC12A1 MIP CLCNKA AQP4 AQP3 AQP2
2 protein homotetramerization GO:0051289 9.99 MIP AQP4 AQP2
3 female pregnancy GO:0007565 9.86 PRL OXT CRH AQP4
4 positive regulation of systemic arterial blood pressure GO:0003084 9.85 AVPR2 AVP
5 positive regulation of vasoconstriction GO:0045907 9.85 AVP AVPR1B AVPR2
6 drinking behavior GO:0042756 9.84 REN OXT
7 glycerol transmembrane transport GO:0015793 9.83 AQP3 AQP2
8 regulation of systemic arterial blood pressure by vasopressin GO:0001992 9.76 AVPR2 AVPR1B
9 renal water homeostasis GO:0003091 9.76 WFS1 AQP4 AQP3 AQP2
10 positive regulation of glutamate secretion GO:0014049 9.67 AVPR1B AVP
11 negative regulation of urine volume GO:0035811 9.65 AVPR2 OXT
12 maternal aggressive behavior GO:0002125 9.62 OXT AVP
13 positive regulation of cellular pH reduction GO:0032849 9.61 AVPR1B AVP
14 hyperosmotic salinity response GO:0042538 9.5 OXT AVPR1B AVP AQP4
15 water transport GO:0006833 9.32 MIP AVP AQP4 AQP3 AQP2

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

# Name GO ID Score Top Affiliating Genes
1 neuropeptide hormone activity GO:0005184 9.8 OXT CRH AVP
2 vasopressin receptor activity GO:0005000 9.67 AVPR2 AVPR1B
3 hormone activity GO:0005179 9.65 PRL POMC OXT INS CRH AVP
4 neurohypophyseal hormone activity GO:0005185 9.56 OXT AVP
5 channel activity GO:0015267 9.46 MIP AQP4 AQP3 AQP2
6 water channel activity GO:0015250 9.23 MIP AQP4 AQP3 AQP2

Sources for Diabetes Insipidus

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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