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ANDI
MCID: DBT091
MIFTS: 67

Diabetes Insipidus, Nephrogenic, Autosomal (ANDI)

Categories: Endocrine diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Diabetes Insipidus, Nephrogenic, Autosomal

About this section

MalaCards integrated aliases for Diabetes Insipidus, Nephrogenic, Autosomal:

Name: Diabetes Insipidus, Nephrogenic, Autosomal 58 76 41
Nephrogenic Diabetes Insipidus 12 77 25 54 26 60 30 6 15 74
Diabetes Insipidus, Nephrogenic 58 26 13 45
Congenital Nephrogenic Diabetes Insipidus 26 38 74
Vasopressin-Resistant Diabetes Insipidus 12 54 26
Nephrogenic Diabetes Insipidus, Autosomal 30 6
Nephrogenic Diabetes Insipidus, X-Linked 30 6
Adh-Resistant Diabetes Insipidus 26 74
Diabetes Insipidus Nephrogenic 54 56
Diabetes Insipidus, Nephrogenic, Type Ii 58
Diabetes Insipidus Nephrogenic X-Linked 54
Diabetes Insipidus, Nephrogenic Type 2 77
Diabetes Insipidus Nephrogenic Type 1 54
Diabetes Insipidus Nephrogenic Type 2 76
Adh Resistant Diabetes Insipidus 54
Diabetes Insipidus Renalis 26
Andi 76
Ndi 26

Characteristics:

Orphanet epidemiological data:

60
nephrogenic diabetes insipidus
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
genetic heterogeneity (see )
onset in first weeks of life
both autosomal dominant and autosomal recessive inheritance have been reported


HPO:

33
diabetes insipidus, nephrogenic, autosomal:
Inheritance heterogeneous autosomal recessive inheritance autosomal dominant inheritance
Onset and clinical course neonatal onset


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Nephrological diseases Neuronal diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare renal diseases


Sources

Summaries for Diabetes Insipidus, Nephrogenic, Autosomal

About this section
NIH Rare Diseases : 54 Nephrogenic diabetes insipidus is a disorder in which a defect in the small tubes (tubules) in the kidneys causes a person to produce a large amount of urine. Nephrogenic diabetes insipidus occurs when the kidney tubules, which allow water to be removed from the body or reabsorbed, do not respond to a chemical in the body called antidiuretic hormone (ADH) or vasopressin. ADH normally tells the kidneys to make the urine more concentrated. As a result of the defect, the kidneys release an excessive amount of water into the urine, producing a large quantity of very dilute urine. The most common symptoms are frequent urination (polyuria), especially during nighttime (nocturia), and drinking too much liquids (polydipsia). It can be either acquired or hereditary. The acquired form is brought on by certain drugs and chronic diseases and can occur at any time during life. About 90% of all cases of hereditary nephrogenic diabetes insipidus result from mutations in the AVPR2 gene, and about  10% of cases are caused by mutations in the AQP2 gene. Treatment consists of plenty of water intake; medication, such as thiazide diuretics and NSAIDs; and a low-salt, low-protein diet.

MalaCards based summary : Diabetes Insipidus, Nephrogenic, Autosomal, also known as nephrogenic diabetes insipidus, is related to diabetes insipidus, nephrogenic, x-linked and diabetes insipidus, neurohypophyseal. An important gene associated with Diabetes Insipidus, Nephrogenic, Autosomal is AQP2 (Aquaporin 2), and among its related pathways/superpathways are Vasopressin-regulated water reabsorption and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Tolvaptan and Furosemide have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and liver, and related phenotypes are nephrogenic diabetes insipidus and hyposthenuria

Disease Ontology : 12 An impaired renal function disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).

Genetics Home Reference : 26 Nephrogenic diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with nephrogenic diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected individuals can quickly become dehydrated if they do not drink enough water, especially in hot weather or when they are sick.

OMIM : 58 Nephrogenic diabetes insipidus is caused by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone (ADH), also known as arginine vasopressin (AVP; 192340). Approximately 90% of patients are males with the X-linked recessive form, type I (304800), which is caused by mutation in the gene encoding the vasopressin V2 receptor (AVPR2; 300538). The remaining 10% of patients have the autosomal form, type II, caused by mutation in the AQP2 gene (Morello and Bichet, 2001). Neurogenic, or central, diabetes insipidus (CDI; 125700) is caused by mutation in the gene encoding arginine vasopressin, located on 20p13. (125800)

UniProtKB/Swiss-Prot : 76 Diabetes insipidus, nephrogenic, autosomal: A disorder caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. Characterized by excessive water drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. Inheritance can be autosomal dominant or recessive.

Wikipedia : 77 Nephrogenic diabetes insipidus (also known as renal diabetes insipidus) is a form of diabetes insipidus... more...

GeneReviews: NBK1177
Sources

Related Diseases for Diabetes Insipidus, Nephrogenic, Autosomal

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

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 diabetes insipidus, nephrogenic, x-linked 33.2 AQP2 AVPR2
2 diabetes insipidus, neurohypophyseal 31.6 AQP2 AVP AVPR2 LNPEP
3 nephrogenic syndrome of inappropriate antidiuresis 30.5 AVP AVPR2
4 bartter disease 30.2 CASR CLCNKA SLC12A1
5 polyhydramnios 30.1 AQP1 AQP3 SLC12A1
6 central pontine myelinolysis 30.1 AQP1 AQP4 AVP
7 diabetes insipidus 30.0 AQP2 ARHGAP4 AVP AVPR2 CLCNKA SLC12A1
8 diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification 12.5
9 hydronephrosis 10.6
10 renal tubular acidosis 10.5
11 fanconi syndrome 10.5
12 hyperparathyroidism 10.4
13 rickets 10.4
14 nephrocalcinosis 10.4
15 hereditary hypophosphatemic rickets 10.3
16 peripheral vertigo 10.3 AQP2 AVP
17 cystinosis 10.3
18 amyloidosis 10.3
19 renal tubular acidosis, distal 10.3
20 motion sickness 10.3 AQP1 AVP
21 idiopathic edema 10.3 AQP1 AQP2
22 vestibular disease 10.3 AQP2 AVP
23 hyperuricemia 10.3
24 familial hypocalciuric hypercalcemia 10.2 ARHGAP4 CASR
25 syndrome of inappropriate antidiuretic hormone 10.2 AQP2 AVP AVPR2
26 gestational diabetes insipidus 10.2 AVP LNPEP
27 cystinosis, nephropathic 10.2
28 diabetes mellitus 10.2
29 hydrocephalus 10.2
30 interstitial nephritis 10.2
31 primary hyperparathyroidism 10.2
32 bladder neck obstruction 10.2
33 ureteral obstruction 10.2
34 acquired immunodeficiency syndrome 10.2
35 hypervitaminosis d 10.2
36 subependymoma 10.1 AQP1 AQP4
37 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.1 AQP2 AQP3 AVP
38 arthrogryposis, renal dysfunction, and cholestasis 1 10.1
39 radiculopathy 10.1
40 hydrops, lactic acidosis, and sideroblastic anemia 10.1 AQP4 MIP
41 bullous keratopathy 10.1 AQP3 MIP
42 spinal cord disease 10.0 AQP4 AVPR2
43 anorexia nervosa 10.0
44 ichthyosis prematurity syndrome 10.0
45 avoidant personality disorder 10.0
46 personality disorder 10.0
47 constipation 10.0
48 depression 10.0
49 autosomal dominant polycystic kidney disease 10.0 AQP1 AQP2 AVP AVPR2
50 renal cell carcinoma, nonpapillary 10.0

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


Acute Cystitis Bipolar Disorder
Diabetes Insipidus

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



Diseases related to Diabetes Insipidus, Nephrogenic, Autosomal
Sources

Symptoms & Phenotypes for Diabetes Insipidus, Nephrogenic, Autosomal

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Human phenotypes related to Diabetes Insipidus, Nephrogenic, Autosomal:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrogenic diabetes insipidus 60 33 obligate (100%) Obligate (100%) HP:0009806
2 hyposthenuria 60 33 hallmark (90%) Very frequent (99-80%) HP:0003158
3 hypernatremia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003228
4 hypernatremic dehydration 60 33 hallmark (90%) Very frequent (99-80%) HP:0004906
5 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
6 nausea and vomiting 60 33 frequent (33%) Frequent (79-30%) HP:0002017
7 constipation 60 33 frequent (33%) Frequent (79-30%) HP:0002019
8 fever 60 33 frequent (33%) Frequent (79-30%) HP:0001945
9 polydipsia 60 33 frequent (33%) Frequent (79-30%) HP:0001959
10 anorexia 60 33 frequent (33%) Frequent (79-30%) HP:0002039
11 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
12 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
13 renal insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000083
14 feeding difficulties 60 33 occasional (7.5%) Occasional (29-5%) HP:0011968
15 hydroureter 60 33 occasional (7.5%) Occasional (29-5%) HP:0000072
16 hypovolemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0011106
17 global developmental delay 60 33 very rare (1%) Very rare (<4-1%) HP:0001263
18 polyhydramnios 60 33 very rare (1%) Very rare (<4-1%) HP:0001561
19 enuresis nocturna 60 33 very rare (1%) Very rare (<4-1%) HP:0010677
20 intellectual disability 33 HP:0001249
21 feeding difficulties in infancy 33 HP:0008872
22 vomiting 33 HP:0002013
23 irritability 33 HP:0000737
24 growth delay 60 Occasional (29-5%)
25 megacystis 33 HP:0000021
26 unexplained fevers 33 HP:0001955
27 functional abnormality of the bladder 60 Occasional (29-5%)
28 polyuria 33 HP:0000103
29 hypertonic dehydration 33 HP:0001986

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
mental retardation can occur in patients with repeated episodes of dehydration

Abdomen Gastrointestinal:
constipation
polydipsia
vomiting
poor feeding

Neurologic Behavioral Psychiatric Manifestations:
irritability

Laboratory Abnormalities:
hypernatremia
high serum osmolality
inappropriately low urine osmolality
normal or increased levels of serum arginine vasopressin (antidiuretic hormone, )
normal extrarenal responses to ddavp administration
more
Genitourinary Bladder:
lower urinary tract dilatation may occur over time

Growth Other:
failure to thrive

Growth Height:
short stature

Metabolic Features:
unexplained fevers
hypertonic dehydration

Genitourinary Kidneys:
polyuria

Clinical features from OMIM:

125800

MGI Mouse Phenotypes related to Diabetes Insipidus, Nephrogenic, Autosomal:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 AQP1 AQP2 AQP3 AQP4 AVP AVPR2
2 growth/size/body region MP:0005378 10.06 AQP1 AQP2 AQP3 AQP4 AQP7 AVPR2
3 homeostasis/metabolism MP:0005376 10 AQP1 AQP2 AQP3 AQP4 AQP7 AVP
4 mortality/aging MP:0010768 9.85 AQP1 AQP2 AQP3 AQP4 AVP AVPR2
5 renal/urinary system MP:0005367 9.65 AQP1 AQP2 AQP3 AQP4 AQP7 AVP
6 vision/eye MP:0005391 9.1 AQP1 AQP3 AQP4 CASR L1CAM MIP
Sources

Drugs & Therapeutics for Diabetes Insipidus, Nephrogenic, Autosomal

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

(show top 50) (show all 93)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tolvaptan Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 150683-30-0 216237
2
Furosemide Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 54-31-9 3440
3
Conivaptan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 210101-16-9 151171
4
Chlorothiazide Approved, Vet_approved Phase 4 58-94-6 2720
5
Metolazone Approved Phase 4,Phase 1 17560-51-9 4170
6 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
7 Natriuretic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
8 Vasopressins Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
9 arginine Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
10 Arginine Vasopressin Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
11 Liver Extracts Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
12 diuretics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
13 Sodium Potassium Chloride Symporter Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
14 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
15 Vasoconstrictor Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
16 Coagulants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
17 Pharmaceutical Solutions Phase 4,Phase 2
18 Torsemide Phase 4
19 Natriuretic Peptide, Brain Phase 4
20 Antihypertensive Agents Phase 4,Phase 1,Not Applicable
21 Sodium Chloride Symporter Inhibitors Phase 4,Phase 1,Not Applicable
22
Spironolactone Approved Phase 2, Phase 3,Not Applicable 52-01-7, 1952-01-7 5833
23
Midodrine Approved Phase 2, Phase 3 133163-28-7, 42794-76-3 4195
24
Metformin Approved Phase 3,Phase 1 657-24-9 14219 4091
25 Neurotransmitter Agents Phase 2, Phase 3,Not Applicable
26
Satavaptan Phase 3,Phase 2 185913-78-4 7029
27 Autonomic Agents Phase 2, Phase 3
28 Mineralocorticoid Receptor Antagonists Phase 2, Phase 3,Not Applicable
29 Adrenergic Agonists Phase 2, Phase 3
30 Sympathomimetics Phase 2, Phase 3
31 Mineralocorticoids Phase 2, Phase 3,Not Applicable
32 Peripheral Nervous System Agents Phase 2, Phase 3,Not Applicable
33 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
34 Diuretics, Potassium Sparing Phase 2, Phase 3,Not Applicable
35 Adrenergic Agents Phase 2, Phase 3
36 Adrenergic alpha-Agonists Phase 2, Phase 3
37 Hormone Antagonists Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
38 Hypoglycemic Agents Phase 3,Phase 1
39
Atorvastatin Approved Phase 2 134523-00-5 60823
40
Lithium carbonate Approved Phase 2 554-13-2
41
carbamide peroxide Approved Phase 2 124-43-6
42
Mannitol Approved, Investigational Phase 2,Not Applicable 69-65-8 453 6251
43
Octreotide Approved, Investigational Phase 2 83150-76-9 6400441 383414
44
Nitric Oxide Approved Phase 2 10102-43-9 145068
45
Phentermine Approved, Illicit Phase 2 122-09-8 4771
46 SRX246 Phase 2,Phase 1
47 Hypolipidemic Agents Phase 2
48 Antimetabolites Phase 2
49 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
50 Anticholesteremic Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 146)
# Name Status NCT ID Phase Drugs
1 Tolvaptan for Hyponatremia in Cirrhotic Patients With Ascites Unknown status NCT01716611 Phase 4 Tolvaptan;placebo
2 Effect of Samsca on Control of Hyponatremia and Extracellular Fluid in Cirrhotic Patients With Ascites Unknown status NCT01552590 Phase 4 Tolvaptan;Placebo
3 Subacute Effect of Tolvaptan on Total Kidney Volume in Adult Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT03596957 Phase 4 Tolvaptan
4 Regional Tolvaptan Registry Recruiting NCT02666651 Phase 4 Tolvaptan
5 Outcome and Treatment Quality Study of Tolvaptan to Treat Hyponatremia in Patients With Heart Failure Terminated NCT02352285 Phase 4 Tolvaptan;Placebo
6 Effects of Tolvaptan in Healthy Adults Completed NCT01973140 Phase 4 Tolvaptan;Hypertonic saline infusion
7 Tolvaptan to Reduce Length of Stay in Hospitalized Patients With Cirrhosis and Hyponatremia Terminated NCT01890694 Phase 4 Tolvaptan;Placebo
8 The Use of Tolvaptan to Prevent Renal Dysfunction in High Risk Patients With Heart Failure-Pilot Study Withdrawn NCT01663662 Phase 4 Tolvaptan;placebo
9 Effect of Tolvaptan on Mid- to Long-term Prognosis of Heart Failure Patients Completed NCT01439009 Phase 4 Tolvaptan;Placebo of tolvaptan
10 Tolvaptan for Ascites in Cirrhotic Patients Completed NCT01292304 Phase 4 Tolvaptan
11 Tolvaptan in Hyponatremic Cancer Patients Completed NCT01199198 Phase 4 Tolvaptan;Placebo
12 Use of Conivaptan (Vaprisol) for Hyponatremic Neuro-ICU Patients Terminated NCT00727090 Phase 4 Conivaptan
13 Tolvaptan for Advanced or Refractory Heart Failure Recruiting NCT02959411 Phase 4 Tolvaptan;Standard of care diuretic therapy
14 A Study of Multiple Dosing Regimens of IV Conivaptan in Subjects With Euvolemic or Hypervolemic Hyponatremia Completed NCT00435591 Phase 4 Conivaptan;placebo
15 Tolvaptan/Ultrafiltration in the Treatment of Acute Heart Failure Completed NCT01863511 Phase 4 loop diuretic;tolvaptan
16 Diuretic and Renal Effects of Vaprisol When Administered Along With Furosemide and Nesiritide Continuous Infusion Withdrawn NCT00806910 Phase 4 Conivaptan
17 The Safety and Efficacy of Tolvaptan for Patients With Tricuspid Regurgitation and Right Heart Failure After Left Heart Valves Replacement Completed NCT02644616 Phase 4 tolvaptan+torasemide;placebo+torasemide
18 Pilot Study of Using Copeptin to Predict Response to Tolvaptan Completed NCT01346072 Phase 4 tolvaptan
19 Tolvaptan For Worsening Outpatient Heart Failure: Role of Copeptin In Identifying Responders Recruiting NCT02476409 Phase 4 tolvaptan
20 Comparison of Oral or Intravenous Thiazides vs Tolvaptan in Diuretic Resistant Decompensated Heart Failure Completed NCT02606253 Phase 4 tolvaptan;Chlorothiazide;Metolazone
21 Aquaresis Utility for Hyponatremic Acute Heart Failure Study Completed NCT02183792 Phase 4 Tolvaptan;Furosemide
22 Effects on Exercise Hemodynamics of Vasopressin Blockade by Conivaptan Infusion in Heart Failure Patients Completed NCT01752543 Phase 4 Conivaptan;Placebo (Dextrose)
23 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
24 Acute Heart Failure Patients With High Copeptin Treated With Tolvaptan Targets Increased AVP Activation for Treatment (ACTIVATE) Unknown status NCT01733134 Phase 3 Tolvaptan;placebo
25 DILIPO (DILutIonal HyPOnatremia) Completed NCT00274326 Phase 3 SR121463B
26 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
27 Effect of Tolvaptan on Renal Plasma Flow (RPF) and Glomerular Filtration Rate (GFR) in ADPKD Completed NCT03803124 Phase 3 Tolvaptan;Placebo
28 Efficacy and Safety Trial of OPC-61815 Injection Compared With Tolvaptan 15-mg Tablet in Patients With Congestive Heart Failure Recruiting NCT03772041 Phase 3 OPC-61815;Tolvaptan Tab 15 MG
29 Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics Study of Tolvaptan in Pediatric Congestive Heart Failure (CHF) Patients With Volume Overload Recruiting NCT03255226 Phase 3 Tolvaptan
30 A Multicenter Trial to Investigate the Efficacy and Safety of Tolvaptan in Patients With Hyponatremia in SIADH Recruiting NCT03048747 Phase 3 Tolvaptan Oral Tablet
31 Safety, Pharmacokinetics, Tolerability and Efficacy of Tolvaptan in Children and Adolescents With ADPKD (Autosomal Dominant Polycystic Kidney Disease) Active, not recruiting NCT02964273 Phase 3 Tolvaptan;Matching Placebo
32 International, Multicenter, Study of One-year, Open-label, Titrated Oral Tolvaptan Tablet Administration in Patients With Chronic Hyponatremia Completed NCT02449044 Phase 3 Tolvaptan
33 A Trial of Tolvaptan in Children and Adolescent Subjects With Euvolemic and Hypervolemic Hyponatremia Withdrawn NCT02442674 Phase 3 Tolvaptan
34 Open-label Trial to Evaluate the Long Term Safety of Titrated Immediate-release Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT02251275 Phase 3 Tolvaptan (OPC-41061)
35 Efficacy and Safety of Tolvaptan in Subjects With Chronic Kidney Disease Between Late Stage 2 to Early Stage 4 Due to Autosomal Dominant Polycystic Kidney Disease Completed NCT02160145 Phase 3 Tolvaptan (OPC-41061);Placebo
36 An Extension Follow-up Trial to Evaluate the Long-term Safety of Children and Adolescent Subjects With Euvolemic or Hypervolemic Hyponatremia Terminated NCT02020278 Phase 3 Tolvaptan
37 Study of the Safety and Effectiveness of SAMSCA® (Tolvaptan) in Children and Adolescents With Euvolemic or Hypervolemic Hyponatremia Terminated NCT02012959 Phase 3 Tolvaptan
38 Efficacy and Safety Study of Tolvaptan to Treat Patients With Cardiac Edema Completed NCT01651156 Phase 3 Tolvaptan;Placebo
39 Efficacy and Safety of Tolvaptan in the Treatment of Cardiac-Induced Edema in Patients With Heart Failure Completed NCT01618448 Phase 3 Tolvaptan;Placebo
40 Randomized, Double-Blind, Placebo Controlled Study of the Short Term Clinical Effects of Tolvaptan in Patients Hospitalized for Worsening Heart Failure With Challenging Volume Management Completed NCT01584557 Phase 3 Tolvaptan or Samsca;placebo or sugar pill
41 Effect of Tolvaptan on Cognitive Function in Cirrhosis Completed NCT01556646 Phase 3 Tolvaptan
42 A Study to Assess the Efficacy, Safety and Pharmacokinetics of Intravenous Conivaptan (Vaprisol®) in Pediatric Subjects With Euvolemic or Hypervolemic Hyponatremia Terminated NCT01451411 Phase 3 Conivaptan hydrochloride;Placebo
43 Phase III Study of Tolvaptan Tablet to Treat Cirrhosis Ascites Completed NCT01349348 Phase 3 Tolvaptan;Tolvaptan;placebo
44 A Study to Investigate the Long-term Safety and Efficacy of Tolvaptan in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) [Extension of Trial 156-04-251 in Japan] Completed NCT01280721 Phase 3 tolvaptan
45 Effects of Tolvaptan vs Fluid Restriction in Hospitalized Subjects With Dilutional Hyponatremia Terminated NCT01227512 Phase 3 tolvaptan
46 Open-Label Tolvaptan Study in Subjects With ADPKD Completed NCT01214421 Phase 3 Tolvaptan
47 A Study to Investigate Pharmacodynamics and Pharmacokinetics of OPC-41061 in Patients With Hepatic Edema Completed NCT01114828 Phase 3 OPC-41061;OPC-41061
48 A Trial to Investigate the Efficacy of OPC-41061 Administered at a Dose of 7.5 mg in Patients With Hepatic Edema Completed NCT01050530 Phase 3 OPC-41061;Placebo
49 A Trial of OPC-41061 in Patients With Hepatic Edema - Investigation of the Safety of Treatment at 7.5 mg Beyond 7 Days and of the Effect of Dose Escalation to 15 mg Completed NCT01048788 Phase 3 OPC-41061
50 A Long-term Administration Study of OPC-41061 in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) (2) [Extension of Study 156-05-002] Completed NCT01022424 Phase 3 OPC-41061

Search NIH Clinical Center for Diabetes Insipidus, Nephrogenic, Autosomal

Cochrane evidence based reviews: diabetes insipidus, nephrogenic

Sources

Genetic Tests for Diabetes Insipidus, Nephrogenic, Autosomal

About this section

Genetic tests related to Diabetes Insipidus, Nephrogenic, Autosomal:

# Genetic test Affiliating Genes
1 Nephrogenic Diabetes Insipidus, Autosomal 30 AQP2
2 Nephrogenic Diabetes Insipidus, X-Linked 30 AVPR2
3 Nephrogenic Diabetes Insipidus 30
Sources

Anatomical Context for Diabetes Insipidus, Nephrogenic, Autosomal

About this section

MalaCards organs/tissues related to Diabetes Insipidus, Nephrogenic, Autosomal:

42
Heart, Kidney, Liver, Brain, Bone, Testes, Pituitary
Sources

Publications for Diabetes Insipidus, Nephrogenic, Autosomal

About this section

Articles related to Diabetes Insipidus, Nephrogenic, Autosomal:

(show top 50) (show all 679)
# Title Authors Year
1
Nephrogenic Diabetes Insipidus. ( 30454745 )
2019
2
Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report. ( 30784238 )
2019
3
Nephrogenic diabetes insipidus associated with prolonged sedation with sevoflurane in the intensive care unit. ( 30916031 )
2019
4
Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree. ( 29394883 )
2018
5
Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus. ( 29594432 )
2018
6
AKAPs-PKA disruptors increase AQP2 activity independently of vasopressin in a model of nephrogenic diabetes insipidus. ( 29650969 )
2018
7
Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus. ( 29527380 )
2018
8
Systemic lupus erythematosus with SjAPgren's syndrome and renal tubular acidosis presenting as nephrogenic diabetes insipidus. ( 29657217 )
2018
9
Nephrogenic diabetes insipidus in initial stage of acute lymphoblastic leukemia and relapse after haploidentical hematopoietic stem-cell transplantation: A case report. ( 29901649 )
2018
10
Functional characterization of AVPR2 mutants found in Turkish patients with nephrogenic diabetes insipidus. ( 29117938 )
2018
11
Tamoxifen attenuates development of lithium-induced nephrogenic diabetes insipidus in rats. ( 29357422 )
2018
12
Treatment of congenital nephrogenic diabetes insipidus in pregnancy. ( 29512817 )
2018
13
Activation of AQP2 water channels without vasopressin: therapeutic strategies for congenital nephrogenic diabetes insipidus. ( 29478202 )
2018
14
Use of acetazolamide in lithium-induced nephrogenic diabetes insipidus: a case report. ( 29479446 )
2018
15
Nephrogenic Diabetes Insipidus in Childhood: Assessment of Volume Status and Appropriate Fluid Replenishment. ( 29489607 )
2018
16
A Novel Mutation in the AVPR2 Gene Causing Congenital Nephrogenic Diabetes Insipidus ( 29991464 )
2018
17
Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling. ( 29996815 )
2018
18
Atorvastatin in the treatment of Lithium-induced nephrogenic diabetes insipidus: the protocol of a randomized controlled trial. ( 30012135 )
2018
19
Tamoxifen Decreases Lithium-Induced Natriuresis in Rats With Nephrogenic Diabetes Insipidus. ( 30050465 )
2018
20
Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations. ( 30073107 )
2018
21
Double Trouble - Severe Hypernatremia Secondary to Central Diabetes Insipidus Complicated by Hypercalcemic Nephrogenic Diabetes Insipidus: A Case Report. ( 30120219 )
2018
22
Complete Nephrogenic Diabetes Insipidus After Prolonged Sevoflurane Sedation: A Case Report About 3 Cases. ( 30130280 )
2018
23
Genetic deletion of ADP-activated P2Y12 receptor ameliorates lithium-induced nephrogenic diabetes insipidus in mice. ( 30257062 )
2018
24
Progranulin Deficient Mice Develop Nephrogenic Diabetes Insipidus. ( 30271659 )
2018
25
Treatment regimens by pediatric nephrologists in children with congenital nephrogenic diabetes insipidus: A MWPNC studya8c. ( 29162216 )
2017
26
Novel<i>de novo AVPR2</i>Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus. ( 29177155 )
2017
27
Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update. ( 29125546 )
2017
28
A novel SLC12A1 gene mutation associated with hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis in four patients. ( 28095294 )
2017
29
Congenital nephrogenic diabetes insipidus in the Corpus Hippocraticum: The first description. ( 28742510 )
2017
30
Value of Renal Biopsy in Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus. ( 28276300 )
2017
31
Congenital nephrogenic diabetes insipidus complicated with Hinman syndrome. ( 28504419 )
2017
32
Nephrogenic diabetes insipidus. ( 28134709 )
2017
33
Hypercalcemia induces targeted autophagic degradation of aquaporin-2 at the onset of nephrogenic diabetes insipidus. ( 28139295 )
2017
34
Aliskiren increases aquaporin-2 expression and attenuates lithium-induced nephrogenic diabetes insipidus. ( 28228402 )
2017
35
Prasugrel suppresses development of lithium-induced nephrogenic diabetes insipidus in mice. ( 28233082 )
2017
36
Hyperactivation of Nrf2 in early tubular development induces nephrogenic diabetes insipidus. ( 28233855 )
2017
37
Bartter Syndrome with Nephrogenic Diabetes Insipidus and Vitamin D Resistant Rickets. ( 28285303 )
2017
38
Role of adenylyl cyclase 6 in the development of lithium-induced nephrogenic diabetes insipidus. ( 28405619 )
2017
39
A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers. ( 26795631 )
2016
40
Analysis of the V2 vasopressin receptor (V2R) mutations causing partial nephrogenic diabetes insipidus highlights a sustainable signaling by a non-peptide V2R agonist. ( 27601473 )
2016
41
Partial Nephrogenic Diabetes Insipidus in a Burned Patient Receiving Sevoflurane Sedation With an Anaesthetic Conserving Device-A Case Report. ( 27414478 )
2016
42
Signaling Modification by GPCR Heteromer and Its Implication on X-Linked Nephrogenic Diabetes Insipidus. ( 27649563 )
2016
43
Acetazolamide in Lithium-Induced Nephrogenic Diabetes Insipidus. ( 27959610 )
2016
44
Metformin improves urine concentration in rodents with nephrogenic diabetes insipidus. ( 27478876 )
2016
45
[Analysis of AVPR2 gene mutation in a pedigree affected with congenital nephrogenic diabetes insipidus]. ( 27577218 )
2016
46
A novel mutation affecting the arginine-137 residue of AVPR2 in dizygous twins leads to nephrogenic diabetes insipidus and attenuated urine exosome aquaporin-2. ( 27117808 )
2016
47
A novel AVPR2 gene mutation of X-linked congenital nephrogenic diabetes insipidus in an Asian pedigree. ( 27565746 )
2016
48
Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family. ( 26974133 )
2016
49
An unusual case of hereditary nephrogenic diabetes insipidus (HNDI) affecting mother and daughter. ( 26244674 )
2016
50
Identification of Potential Pharmacoperones Capable of Rescuing the Functionality of Misfolded Vasopressin 2 Receptor Involved in Nephrogenic Diabetes Insipidus. ( 27280550 )
2016
Sources

Variations for Diabetes Insipidus, Nephrogenic, Autosomal

About this section

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

76 (show all 28)
# Symbol AA change Variation ID SNP ID
1 AQP2 p.Gly64Arg VAR_004401 rs104894326
2 AQP2 p.Arg187Cys VAR_004402 rs104894328
3 AQP2 p.Ser216Pro VAR_004403 rs104894329
4 AQP2 p.Leu22Val VAR_015239 rs104894336
5 AQP2 p.Leu28Pro VAR_015240
6 AQP2 p.Ala47Val VAR_015241 rs995684800
7 AQP2 p.Asn68Ser VAR_015242 rs104894331
8 AQP2 p.Val71Met VAR_015243 rs149659001
9 AQP2 p.Thr125Met VAR_015244 rs104894333
10 AQP2 p.Thr126Met VAR_015245 rs104894330
11 AQP2 p.Ala147Thr VAR_015246 rs104894334
12 AQP2 p.Val168Met VAR_015247 rs755694590
13 AQP2 p.Gly175Arg VAR_015248 rs104894335
14 AQP2 p.Cys181Trp VAR_015249 rs104894337
15 AQP2 p.Pro185Ala VAR_015250 rs761713751
16 AQP2 p.Ala190Thr VAR_015251 rs104894341
17 AQP2 p.Trp202Cys VAR_015253
18 AQP2 p.Glu258Lys VAR_015254 rs104894332
19 AQP2 p.Pro262Leu VAR_015255 rs104894339
20 AQP2 p.Gln57Pro VAR_015256 rs28931580
21 AQP2 p.Gly100Val VAR_015257 rs104894338
22 AQP2 p.Ala70Asp VAR_062585
23 AQP2 p.Gly100Arg VAR_062586 rs130307620
24 AQP2 p.Gly180Ser VAR_062587 rs147039983
25 AQP2 p.Arg187His VAR_062588 rs193922495
26 AQP2 p.Arg254Leu VAR_062589
27 AQP2 p.Arg254Gln VAR_062590
28 AQP2 p.Thr108Met VAR_071370 rs146882829

ClinVar genetic disease variations for Diabetes Insipidus, Nephrogenic, Autosomal:

6 (show top 50) (show all 231)
# Gene Variation Type Significance SNP ID Assembly Location
1 AVPR2 NM_000054.5(AVPR2): c.388A> T (p.Ile130Phe) single nucleotide variant Pathogenic rs796052096 GRCh37 Chromosome X, 153171348: 153171348
2 AVPR2 NM_000054.5(AVPR2): c.388A> T (p.Ile130Phe) single nucleotide variant Pathogenic rs796052096 GRCh38 Chromosome X, 153905894: 153905894
3 AVPR2 AVPR2, 1-BP DEL, 733G deletion Pathogenic
4 AVPR2 NM_000054.4(AVPR2): c.395C> A (p.Ala132Asp) single nucleotide variant Pathogenic rs104894747 GRCh37 Chromosome X, 153171355: 153171355
5 AVPR2 NM_000054.4(AVPR2): c.395C> A (p.Ala132Asp) single nucleotide variant Pathogenic rs104894747 GRCh38 Chromosome X, 153905901: 153905901
6 AVPR2 NM_000054.4(AVPR2): c.553G> T (p.Gly185Cys) single nucleotide variant Pathogenic rs104894748 GRCh37 Chromosome X, 153171513: 153171513
7 AVPR2 NM_000054.4(AVPR2): c.553G> T (p.Gly185Cys) single nucleotide variant Pathogenic rs104894748 GRCh38 Chromosome X, 153906059: 153906059
8 AVPR2 NM_000054.4(AVPR2): c.614A> G (p.Tyr205Cys) single nucleotide variant Pathogenic rs104894749 GRCh37 Chromosome X, 153171574: 153171574
9 AVPR2 NM_000054.4(AVPR2): c.614A> G (p.Tyr205Cys) single nucleotide variant Pathogenic rs104894749 GRCh38 Chromosome X, 153906120: 153906120
10 AVPR2 NM_000054.4(AVPR2): c.607C> T (p.Arg203Cys) single nucleotide variant Pathogenic rs104894750 GRCh37 Chromosome X, 153171567: 153171567
11 AVPR2 NM_000054.4(AVPR2): c.607C> T (p.Arg203Cys) single nucleotide variant Pathogenic rs104894750 GRCh38 Chromosome X, 153906113: 153906113
12 AVPR2 NM_000054.4(AVPR2): c.337C> T (p.Arg113Trp) single nucleotide variant Pathogenic rs28935496 GRCh37 Chromosome X, 153171297: 153171297
13 AVPR2 NM_000054.4(AVPR2): c.337C> T (p.Arg113Trp) single nucleotide variant Pathogenic rs28935496 GRCh38 Chromosome X, 153905843: 153905843
14 AVPR2 AVPR2, 1-BP INS insertion Pathogenic
15 AVPR2 NM_000054.4(AVPR2): c.213G> A (p.Trp71Ter) single nucleotide variant Pathogenic rs104894751 GRCh37 Chromosome X, 153171173: 153171173
16 AVPR2 NM_000054.4(AVPR2): c.213G> A (p.Trp71Ter) single nucleotide variant Pathogenic rs104894751 GRCh38 Chromosome X, 153905719: 153905719
17 AVPR2 NM_000054.4(AVPR2): c.839A> G (p.Tyr280Cys) single nucleotide variant Pathogenic rs104894752 GRCh37 Chromosome X, 153171799: 153171799
18 AVPR2 NM_000054.4(AVPR2): c.839A> G (p.Tyr280Cys) single nucleotide variant Pathogenic rs104894752 GRCh38 Chromosome X, 153906345: 153906345
19 AVPR2 NM_000054.4(AVPR2): c.1009C> T (p.Arg337Ter) single nucleotide variant Pathogenic rs104894753 GRCh37 Chromosome X, 153172075: 153172075
20 AVPR2 NM_000054.4(AVPR2): c.1009C> T (p.Arg337Ter) single nucleotide variant Pathogenic rs104894753 GRCh38 Chromosome X, 153906621: 153906621
21 AVPR2 NM_000054.4(AVPR2): c.253G> A (p.Asp85Asn) single nucleotide variant Pathogenic rs104894754 GRCh37 Chromosome X, 153171213: 153171213
22 AVPR2 NM_000054.4(AVPR2): c.253G> A (p.Asp85Asn) single nucleotide variant Pathogenic rs104894754 GRCh38 Chromosome X, 153905759: 153905759
23 AVPR2 NM_000054.4(AVPR2): c.602G> A (p.Gly201Asp) single nucleotide variant Pathogenic rs104894755 GRCh37 Chromosome X, 153171562: 153171562
24 AVPR2 NM_000054.4(AVPR2): c.602G> A (p.Gly201Asp) single nucleotide variant Pathogenic rs104894755 GRCh38 Chromosome X, 153906108: 153906108
25 AQP2 NM_000486.5(AQP2): c.559C> T (p.Arg187Cys) single nucleotide variant Pathogenic rs104894328 GRCh37 Chromosome 12, 50348446: 50348446
26 AQP2 NM_000486.5(AQP2): c.559C> T (p.Arg187Cys) single nucleotide variant Pathogenic rs104894328 GRCh38 Chromosome 12, 49954663: 49954663
27 AQP2 NM_000486.5(AQP2): c.439G> A (p.Ala147Thr) single nucleotide variant Pathogenic rs104894334 GRCh37 Chromosome 12, 50348016: 50348016
28 AQP2 NM_000486.5(AQP2): c.439G> A (p.Ala147Thr) single nucleotide variant Pathogenic rs104894334 GRCh38 Chromosome 12, 49954233: 49954233
29 AQP2 NM_000486.5(AQP2): c.223T> G (p.Cys75Gly) single nucleotide variant Likely pathogenic rs193922494 GRCh37 Chromosome 12, 50344836: 50344836
30 AQP2 NM_000486.5(AQP2): c.223T> G (p.Cys75Gly) single nucleotide variant Likely pathogenic rs193922494 GRCh38 Chromosome 12, 49951053: 49951053
31 AQP2 NM_000486.5(AQP2): c.438C> T (p.Phe146=) single nucleotide variant Likely benign rs143886391 GRCh37 Chromosome 12, 50348015: 50348015
32 AQP2 NM_000486.5(AQP2): c.438C> T (p.Phe146=) single nucleotide variant Likely benign rs143886391 GRCh38 Chromosome 12, 49954232: 49954232
33 AQP2 NM_000486.5(AQP2): c.560G> A (p.Arg187His) single nucleotide variant Likely pathogenic rs193922495 GRCh37 Chromosome 12, 50348447: 50348447
34 AQP2 NM_000486.5(AQP2): c.560G> A (p.Arg187His) single nucleotide variant Likely pathogenic rs193922495 GRCh38 Chromosome 12, 49954664: 49954664
35 AQP2 NM_000486.5(AQP2): c.785delC (p.Pro262Argfs) deletion Likely pathogenic rs193922496 GRCh37 Chromosome 12, 50349360: 50349360
36 AQP2 NM_000486.5(AQP2): c.785delC (p.Pro262Argfs) deletion Likely pathogenic rs193922496 GRCh38 Chromosome 12, 49955577: 49955577
37 AVPR2 NM_000054.4(AVPR2): c.176T> C (p.Leu59Pro) single nucleotide variant Likely pathogenic rs193922112 GRCh37 Chromosome X, 153171136: 153171136
38 AVPR2 NM_000054.4(AVPR2): c.176T> C (p.Leu59Pro) single nucleotide variant Likely pathogenic rs193922112 GRCh38 Chromosome X, 153905682: 153905682
39 AVPR2 NM_000054.4(AVPR2): c.290T> C (p.Leu97Pro) single nucleotide variant Likely pathogenic rs193922113 GRCh37 Chromosome X, 153171250: 153171250
40 AVPR2 NM_000054.4(AVPR2): c.290T> C (p.Leu97Pro) single nucleotide variant Likely pathogenic rs193922113 GRCh38 Chromosome X, 153905796: 153905796
41 AVPR2 NM_000054.4(AVPR2): c.409C> G (p.Arg137Gly) single nucleotide variant Likely pathogenic rs104894761 GRCh37 Chromosome X, 153171369: 153171369
42 AVPR2 NM_000054.4(AVPR2): c.409C> G (p.Arg137Gly) single nucleotide variant Likely pathogenic rs104894761 GRCh38 Chromosome X, 153905915: 153905915
43 AVPR2 NM_000054.4(AVPR2): c.424delT (p.Cys142Alafs) deletion Likely pathogenic rs193922114 GRCh37 Chromosome X, 153171384: 153171384
44 AVPR2 NM_000054.4(AVPR2): c.424delT (p.Cys142Alafs) deletion Likely pathogenic rs193922114 GRCh38 Chromosome X, 153905930: 153905930
45 AVPR2 NM_000054.4(AVPR2): c.472delC (p.Arg158Glyfs) deletion Likely pathogenic rs193922115 GRCh37 Chromosome X, 153171432: 153171432
46 AVPR2 NM_000054.4(AVPR2): c.472delC (p.Arg158Glyfs) deletion Likely pathogenic rs193922115 GRCh38 Chromosome X, 153905978: 153905978
47 AVPR2 NM_000054.4(AVPR2): c.554delG (p.Gly185Valfs) deletion Pathogenic/Likely pathogenic rs193922116 GRCh37 Chromosome X, 153171514: 153171514
48 AVPR2 NM_000054.4(AVPR2): c.554delG (p.Gly185Valfs) deletion Pathogenic/Likely pathogenic rs193922116 GRCh38 Chromosome X, 153906060: 153906060
49 AVPR2 NM_000054.4(AVPR2): c.673C> T (p.Gln225Ter) single nucleotide variant Likely pathogenic rs193922117 GRCh37 Chromosome X, 153171633: 153171633
50 AVPR2 NM_000054.4(AVPR2): c.673C> T (p.Gln225Ter) single nucleotide variant Likely pathogenic rs193922117 GRCh38 Chromosome X, 153906179: 153906179
Sources

Expression for Diabetes Insipidus, Nephrogenic, Autosomal

About this section
Search GEO for disease gene expression data for Diabetes Insipidus, Nephrogenic, Autosomal.
Sources

Pathways for Diabetes Insipidus, Nephrogenic, Autosomal

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Pathways related to Diabetes Insipidus, Nephrogenic, Autosomal according to KEGG:

38
# Name Kegg Source Accession
1 Vasopressin-regulated water reabsorption hsa04962

Pathways related to Diabetes Insipidus, Nephrogenic, Autosomal according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 67
Show member pathways
 12.98 AQP1 AQP2 AQP3 AQP4 AQP7 AVP
2
Aquaporin-mediated transport 67
Show member pathways
 11.64 AQP1 AQP2 AQP3 AQP4 AQP7 AVP
3
Vasopressin-regulated water reabsorption 38
11 AQP2 AQP3 AQP4 AVP AVPR2
4
Diuretics Pathway, Pharmacodynamics 62
10.72 CLCNKA SLC12A1
Sources

GO Terms for Diabetes Insipidus, Nephrogenic, Autosomal

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.97 AQP1 AQP2 AQP3 AQP4 AQP7 AVPR2
2 integral component of plasma membrane GO:0005887 9.87 AQP1 AQP7 AVPR2 CASR CLCNKA LNPEP
3 apical plasma membrane GO:0016324 9.65 AQP1 AQP2 CASR MIP SLC12A1
4 plasma membrane GO:0005886 9.44 AQP1 AQP2 AQP3 AQP4 AQP7 AVPR2
5 basolateral plasma membrane GO:0016323 9.35 AQP1 AQP2 AQP3 AQP4 CASR
6 membrane GO:0016020 10.18 AQP1 AQP2 AQP3 AQP4 AQP7 AVPR2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.92 AQP1 AQP2 AQP3 AQP4 AQP7 CLCNKA
2 cellular response to hypoxia GO:0071456 9.69 AQP1 AQP3 CASR
3 chloride transmembrane transport GO:1902476 9.67 CASR CLCNKA SLC12A1
4 excretion GO:0007588 9.65 AQP2 AQP3 AQP7 AVPR2 CLCNKA
5 positive regulation of vasoconstriction GO:0045907 9.63 AVP AVPR2 CASR
6 odontogenesis GO:0042476 9.55 AQP1 AQP3
7 cellular response to copper ion GO:0071280 9.54 AQP1 AQP2
8 multicellular organismal water homeostasis GO:0050891 9.54 AQP1 AQP4 AVP
9 cell volume homeostasis GO:0006884 9.52 AQP1 SLC12A1
10 positive regulation of systemic arterial blood pressure GO:0003084 9.48 AVP AVPR2
11 glycerol transport GO:0015793 9.46 AQP1 AQP2 AQP3 AQP7
12 cellular response to mercury ion GO:0071288 9.43 AQP1 AQP2
13 renal water homeostasis GO:0003091 9.43 AQP1 AQP2 AQP3 AQP4 AVP AVPR2
14 renal water transport GO:0003097 9.4 AQP1 AQP2
15 water transport GO:0006833 9.17 AQP1 AQP2 AQP3 AQP4 AQP7 AVP

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

# Name GO ID Score Top Affiliating Genes
1 channel activity GO:0015267 9.43 AQP1 AQP2 AQP3 AQP4 AQP7 MIP
2 water transmembrane transporter activity GO:0005372 9.33 AQP1 AQP2 AQP4
3 glycerol channel activity GO:0015254 9.32 AQP3 AQP7
4 glycerol transmembrane transporter activity GO:0015168 9.26 AQP1 AQP2
5 water channel activity GO:0015250 9.1 AQP1 AQP2 AQP3 AQP4 AQP7 MIP
Sources

Sources for Diabetes Insipidus, Nephrogenic, Autosomal

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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