Diabetes Insipidus disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: DBT005 MIFTS: 55	Diabetes Insipidus Categories: Endocrine diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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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

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Endocrine diseases Nephrological diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Endocrine, nutritional and metabolic diseases

Disorders of other endocrine glands

Hypofunction and other disorders of pituitary gland

Diabetes insipidus

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

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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...

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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:

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Symptoms & Phenotypes for Diabetes Insipidus

MGI Mouse Phenotypes related to Diabetes Insipidus:

⁴⁵

#	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

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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

Hemostatics

Phase 4

Deamino Arginine Vasopressin

Phase 4

Coagulants

Phase 4

Hormones

Phase 4

Vasoconstrictor Agents

Phase 4

Anesthetics, General

Phase 4

Anesthetics

Phase 4

Pharmaceutical Solutions

Phase 4

Neurotransmitter Agents

Phase 4

Psychotropic Drugs

Phase 4

Anti-Anxiety Agents

Phase 4

Anesthetics, Intravenous

Phase 4

Hypnotics and Sedatives

Phase 4

GABA Modulators

Phase 4

Hormone Antagonists

Phase 4

Glucagon-Like Peptide 1

Phase 4

Incretins

Phase 4

Anti-Obesity Agents

Phase 4

Corticotropin-Releasing Hormone

Phase 4

Hydrocortisone 17-butyrate 21-propionate

Phase 4

Sodium Channel Blockers

Phase 4

Diuretics, Potassium Sparing

Phase 4

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

Hypoglycemic Agents

Phase 2

Antimetabolites

Phase 2

Hypolipidemic Agents

Phase 2

Anticholesteremic Agents

Phase 2

Hydroxymethylglutaryl-CoA Reductase Inhibitors

Phase 2

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

Desmopressin Acetate

Vasopressin (USP)

VASOPRESSIN TANNATE (IN OIL)

Cochrane evidence based reviews: diabetes insipidus

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Genetic Tests for Diabetes Insipidus

Genetic tests related to Diabetes Insipidus:

#	Genetic test	Affiliating Genes
1	Diabetes Insipidus ²⁸

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Anatomical Context for Diabetes Insipidus

Organs/tissues related to Diabetes Insipidus:

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

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Publications for Diabetes Insipidus

Articles related to Diabetes Insipidus:

(show top 50) (show all 9303)

#	Title	Authors	PMID	Year
1	Central diabetes insipidus. ⁶² ⁵	Arima H...Hagiwara D	28008190	2016
2	Changing the name of diabetes insipidus: a position statement of The Working Group for Renaming Diabetes Insipidus. ⁶² ⁴¹	Working Group for Renaming Diabetes Insipidus...Wass JAH	36244744	2022
3	Analysis of thyroid involvement in children and adult Langerhans cell histiocytosis: An underestimated endocrine manifestation. ⁶² ⁴¹	Li Y...Lian X	36246871	2022
4	Relationship between postoperative hypothalamic injury and water and sodium disturbance in patients with craniopharyngioma: A retrospective study of 178 cases. ⁶² ⁴¹	Du C...Yuan J	36120435	2022
5	Characterization of dietary and herbal sourced natural compounds that modulate SEL1L-HRD1 ERAD activity and alleviate protein misfolding in the ER. ⁶²	Yang J...Shi G	36228974	2023
6	The clinical and metabolic characteristics of children and adolescents with hypothalamic dysfunction: A single-centre study from China. ⁶²	Ke X...Zhu H	35978545	2023
7	Mechanistic insights into the primary and secondary alterations of renal ion and water transport in the distal nephron. ⁶²	Tabibzadeh N...Crambert G	35909256	2023
8	Endocrine outcomes after limited surgery and conformal photon radiation therapy for pediatric craniopharyngioma: Long-term results from the RT1 protocol. ⁶²	Merchant TE...Lustig RH	35481829	2022
9	Wolfram syndrome in a young woman with associated hypergonadotropic hypogonadism - A case report. ⁶²	Jodoin A...Beltrand J	36100371	2022
10	Outcomes of endoscopic endonasal resection of pediatric craniopharyngiomas. ⁶²	Patel TD...Palmer JN	35485414	2022
11	Bifocal pineal and suprasellar germinomas with posterior fossa metastases in an adolescent patient. ⁶²	Kumar V...Urbine J	36189158	2022
12	Diagnosis of Langerhans cell histiocytosis on cytological examination of cerebrospinal fluid: Report of the first case. ⁶²	Tommasino F...Caputo A	35950687	2022
13	Posterior hypothalamic involvement on pre-operative MRI predicts hypothalamic obesity in craniopharyngiomas. ⁶²	Rachmasari KN...Dobri GA	36462067	2022
14	Machine learning-based algorithm as an innovative approach for the differentiation between diabetes insipidus and primary polydipsia in clinical practice. ⁶²	Nahum U...Pfister M	36201166	2022
15	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	Iwamoto Y...Kaneto H	35569983	2022
16	Infection with SARS-CoV-2 may alter the half-life of desmopressin (DDAVP) in patients with central diabetes insipidus. ⁶²	Dubinski I...Schmidt H	36240057	2022
17	Serum copeptin levels at day two after pituitary surgery and ratio to baseline predict postoperative central diabetes insipidus. ⁶²	Jang HN...Kim JH	36322283	2022
18	Idiopathic central diabetes insipidus in a large cohort of patients: the hypopituitarism ENEA rare observational (HEROS) study. ⁶²	Iraqi HM...Shimon I	36260240	2022
19	Changing the name of diabetes insipidus. ⁶²	Arima H...Cooper D	36334185	2022
20	Erdheim-Chester disease: Typical radiologic findings of a multisystemic disease. ⁶²	Peixoto A...Leitao J	36263330	2022
21	Postoperative fluid restriction to prevent hyponatremia after transsphenoidal pituitary surgery: An updated meta-analysis and critique. ⁶²	Castle-Kirszbaum M...Fuller PJ	36369079	2022
22	Effect of Tolvaptan in Patients with Chronic Kidney Disease Stage G5, and Impact of Concomitant Use of Thiazide Diuretics: A Retrospective Cohort Study. ⁶²	Uchiyama K...Itoh H	35962921	2022
23	Endoscopic pituitary surgery: National database review. ⁶²	Al-Qurayshi Z...Graham SM	36039744	2022
24	Exoscopic vs. microscopic transsphenoidal surgery for Cushing's disease: a retrospective single-center study on 388 patients. ⁶²	Sumislawski P...Rotermund R	36136255	2022
25	The outcomes of surgical treatment via transsphenoidal approach for patients with nonfunctioning pituitary adenoma: a single institution's experience. ⁶²	Choo YH...Kim OL	36331312	2022
26	The Cost Effectiveness of Implementation of a Postoperative Endocrinopathy Management Protocol after Resection of Pituitary Adenomas. ⁶²	Benjamin CG...Pacione D	36393880	2022
27	Low preoperative serum prealbumin levels and risk of postoperative complications after transsphenoidal surgery in nonfunctioning pituitary adenoma. ⁶²	Song S...Feng L	36455266	2022
28	Effect of pituitary adenoma consistency on surgical outcomes in patients undergoing endonasal endoscopic transsphenoidal surgery. ⁶²	Acitores Cancela A...Iglesias P	35962896	2022
29	Impact of surgical factors on delayed hyponatremia in patients with nonfunctioning pituitary adenoma after endonasal endoscopic transsphenoidal procedure. ⁶²	Tanaka H...Nakase H	35984619	2022
30	Polyuria in patients with lower urinary tract symptoms: Prevalence and etiology. ⁶²	Fisch GZ...Blaivas JG	36317410	2022
31	Diagnostic and therapeutic approach to hypernatremia. ⁶²	Ilardi A	35918296	2022
32	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	Zamanipoor Najafabadi AH...Biermasz NR	36327151	2022
33	Genetic basis of nephrogenic diabetes insipidus. ⁶²	Hureaux M...Vargas-Poussou R	36460218	2022
34	Genetic deletion of the nuclear factor of activated T cells 5 in collecting duct principal cells causes nephrogenic diabetes insipidus. ⁶²	Petrillo F...Fenton RA	36197017	2022
35	Change in the pituitary stalk deviation angle after transsphenoidal surgery can predict the development of diabetes insipidus for pituitary adenomas. ⁶²	Xue L...Yang Y	36103145	2022
36	Patients' insights into diabetes insipidus. ⁶²	Tysoe O	36085414	2022
37	A dog carrying mutations in AVP-NPII exhibits key features of central diabetes insipidus. ⁶²	Xu H...Liu X	36400367	2022
38	Syndrome of inappropriate antidiuresis and diabetes insipidus as two sides of the same coin in hypothalamic lymphoma: A case report. ⁶²	Mormando M...Appetecchia M	36424791	2022
39	Changing the name of diabetes insipidus: a position statement of The Working Group for Renaming Diabetes Insipidus. ⁶²	Working Group for Renaming Diabetes Insipidus...Wass JAH	36228658	2022
40	Changing the name of diabetes insipidus: a position statement of The Working Group for Renaming Diabetes Insipidus. ⁶²	Working Group for Renaming Diabetes Insipidus...Wass JAH	36239119	2022
41	Mineralocorticoids induce polyuria by reducing apical aquaporin-2 expression of the kidney in partial vasopressin deficiency. ⁶²	Kurimoto J...Arima H	36450452	2022
42	Changing the name of diabetes insipidus: a position statement of the working group to consider renaming diabetes insipidus. ⁶²	Arima H...Wass J	36219203	2022
43	Changing the Name of Diabetes Insipidus: A Position Statement of the Working Group for Renaming Diabetes Insipidus. ⁶²	Arima H...Working Group for Renaming Diabetes Insipidus	36355385	2022
44	Recovery of diabetes insipidus after Chiari malformation decompression: A rare manifestation of Chiari malformation. ⁶²	Roohollahi F...Hajiabadi M	36447669	2022
45	Delay in desmopressin therapy: Disaster in waiting. ⁶²	Kroll C...Zandvakili A	36376238	2022
46	[Hypernatremia and polyuria in a female patient with an initial diagnosis of secondary acute myeloid leukemia]. ⁶²	Aydilek E...Brokers N	35925122	2022
47	Comprehensive analysis of clinical and laboratory features of 440 published cases of Sjögren's syndrome and renal tubular acidosis. ⁶²	Sandhya P	36324184	2022
48	Rare presentation of multiple thromboses in Erdheim-Chester disease: a case-based review. ⁶²	Liu Y...Wang M	35687294	2022
49	The importance of preserving the superior hypophyseal artery infundibular branch in craniopharyngioma surgery. ⁶²	Sasaki H...Saito R	36355231	2022
50	Neuroimaging in Pediatric Patients with Juvenile Xanthogranuloma of the CNS. ⁶²	Serrallach BL...Desai NK	36265894	2022

Sources

Genes for Diabetes Insipidus

Genes related to Diabetes Insipidus (0 elite genes):

(show all 32)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	AVP	Arginine Vasopressin	Protein Coding	86.54	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries Pathways & Interactions (show sections)	28008190
2	AVPR2	Arginine Vasopressin Receptor 2	Protein Coding	61.73	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries Pathways & Interactions (show sections)
3	AQP2	Aquaporin 2	Protein Coding	40.25	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
4	WFS1	Wolframin ER Transmembrane Glycoprotein	Protein Coding	36.26	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
5	MATN4	Matrilin 4	Protein Coding	25	Likely pathogenic ⁵
6	ARHGAP4	Rho GTPase Activating Protein 4	Protein Coding	24.25	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
7	CLCNKA	Chloride Voltage-Gated Channel Ka	Protein Coding	23.39	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Functions (show sections)
8	POMC	Proopiomelanocortin	Protein Coding	16.11	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
9	OXT	Oxytocin/Neurophysin I Prepropeptide	Protein Coding	15.65	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
10	PRL	Prolactin	Protein Coding	15.45	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
11	SLC12A1	Solute Carrier Family 12 Member 1	Protein Coding	15.3	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
12	MIP	Major Intrinsic Protein Of Lens Fiber	Protein Coding	15.09	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
13	AQP3	Aquaporin 3 (Gill Blood Group)	Protein Coding	15.02	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
14	CISD2	CDGSH Iron Sulfur Domain 2	Protein Coding	15	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
15	INS	Insulin	Protein Coding	14.73	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
16	REN	Renin	Protein Coding	14.47	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
17	AQP4	Aquaporin 4	Protein Coding	14.44	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
18	CRH	Corticotropin Releasing Hormone	Protein Coding	14.4	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
19	NPTX2	Neuronal Pentraxin 2	Protein Coding	14.35	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
20	AVPR1B	Arginine Vasopressin Receptor 1B	Protein Coding	14.27	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
21	CLCNKB	Chloride Voltage-Gated Channel Kb	Protein Coding	13.64	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
22	BSND	Barttin CLCNK Type Accessory Subunit Beta	Protein Coding	13.63	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
23	CASR	Calcium Sensing Receptor	Protein Coding	13.47	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
24	AVPR1A	Arginine Vasopressin Receptor 1A	Protein Coding	13.32	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
25	OXTR	Oxytocin Receptor	Protein Coding	13.32	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
26	LNPEP	Leucyl And Cystinyl Aminopeptidase	Protein Coding	13.26	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
27	GH1	Growth Hormone 1	Protein Coding	13.25	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
28	VWF	Von Willebrand Factor	Protein Coding	13.24	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
29	TG	Thyroglobulin	Protein Coding	13.21	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
30	AFP	Alpha Fetoprotein	Protein Coding	13.16	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
31	CALCA	Calcitonin Related Polypeptide Alpha	Protein Coding	13.11	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
32	SAG	S-Antigen Visual Arrestin	Protein Coding	12.97	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)

Sources

Variations for Diabetes Insipidus

ClinVar genetic disease variations for Diabetes Insipidus:

⁵

#	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

Sources

Expression for Diabetes Insipidus

Search GEO for disease gene expression data for Diabetes Insipidus.

Sources

Pathways for Diabetes Insipidus

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

#	Super pathways	Score	Top Affiliating Genes
1	Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁶ Show member pathways Amino acid transport across the plasma membrane ⁶⁶ Bicarbonate transporters ⁶⁶ Cation-coupled Chloride cotransporters ⁶⁶ Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN) ⁶⁶ Defective SLC12A1 causes Bartter syndrome 1 (BS1) ⁶⁶ Defective SLC12A3 causes Gitelman syndrome (GS) ⁶⁶ Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) ⁶⁶ Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT) ⁶⁶ Defective SLC17A5 causes Salla disease (SD) and ISSD ⁶⁶ Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25) ⁶⁶ Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1) ⁶⁶ Defective SLC22A12 causes renal hypouricemia 1 (RHUC1) ⁶⁶ Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1) ⁶⁶ Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP) ⁶⁶ Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI) ⁶⁶ Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) ⁶⁶ Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1) ⁶⁶ Defective SLC26A4 causes Pendred syndrome (PDS) ⁶⁶ Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1) ⁶⁶ Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) ⁶⁶ Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG) ⁶⁶ Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) ⁶⁶ Defective SLC6A5 causes hyperekplexia 3 (HKPX3) ⁶⁶ Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH) ⁶⁶ Defective SLC9A9 causes autism 16 (AUTS16) ⁶⁶ Inositol transporters ⁶⁶ Multifunctional anion exchangers ⁶⁶ Na+/Cl- dependent neurotransmitter transporters ⁶⁶ Organic anion transport ⁶⁶ Organic anion transporters ⁶⁶ Organic cation transport ⁶⁶ Organic cation/anion/zwitterion transport ⁶⁶ Proton/oligopeptide cotransporters ⁶⁶ Proton-coupled monocarboxylate transport ⁶⁶ Proton-coupled neutral amino acid transporters ⁶⁶ Rhesus glycoproteins mediate ammonium transport. ⁶⁶ SLC-mediated transmembrane transport ⁶⁶ Sodium/Calcium exchangers ⁶⁶ Sodium/Proton exchangers ⁶⁶ Sodium-coupled phosphate cotransporters ⁶⁶ Sodium-coupled sulphate, di- and tri-carboxylate transporters ⁶⁶ Transport of bile salts and organic acids, metal ions and amine compounds ⁶⁶ Transport of small molecules ⁶⁶ Type II Na+/Pi cotransporters ⁶⁶ Variant SLC6A14 may confer susceptibility towards obesity ⁶⁶	12.99	AQP2 AQP3 AQP4 AVP AVPR2 CLCNKA
2	Neuroscience ³	12.31	WFS1 SLC12A1 POMC AVP
3	Glucose / Energy Metabolism ³	12.24	WFS1 INS CISD2 AQP2
4	Disorders of transmembrane transporters ⁶⁶ Show member pathways SLC transporter disorders ⁶⁶	12.17	SLC12A1 AVPR2 AVPR1B AVP
5	G alpha (s) signalling events ⁶⁶ Show member pathways Defective ACTH causes obesity and POMCD ⁶⁶	11.83	POMC CRH AVPR2 AVP
6	Aquaporin-mediated transport ⁶⁶ Show member pathways Passive transport by Aquaporins ⁶⁶ Transport of glycerol from adipocytes to the liver by Aquaporins ⁶⁶ Vasopressin regulates renal water homeostasis via Aquaporins ⁶⁶	11.47	MIP AVPR2 AVP AQP4 AQP3 AQP2
7	Prader-Willi and Angelman syndrome ⁷⁴	11.32	POMC OXT INS
8	Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics ⁶⁰	10.63	PRL POMC INS
9	Glucocorticoid Pathway (HPA Axis), Pharmacodynamics ⁶⁰	10.25	POMC CRH
10	Vasopressin-like receptors ⁶⁶ Show member pathways Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI) ⁶⁶ Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI) ⁶⁶	9.97	OXT AVPR2 AVPR1B AVP

Sources

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