Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Academic Licensing Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
ANDI
MCID: DBT091
MIFTS: 66

Diabetes Insipidus, Nephrogenic, Autosomal (ANDI)

Categories: Genetic diseases, Rare diseases, Nephrological diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Diabetes Insipidus, Nephrogenic, Autosomal

About this section

MalaCards integrated aliases for Diabetes Insipidus, Nephrogenic, Autosomal:

Name: Diabetes Insipidus, Nephrogenic, Autosomal 57 75 40
Nephrogenic Diabetes Insipidus 12 76 24 53 25 59 29 6 15 73
Diabetes Insipidus, Nephrogenic 57 25 13 44
Congenital Nephrogenic Diabetes Insipidus 25 37 73
Vasopressin-Resistant Diabetes Insipidus 12 53 25
Nephrogenic Diabetes Insipidus, Autosomal 29 6
Nephrogenic Diabetes Insipidus, X-Linked 29 6
Adh-Resistant Diabetes Insipidus 25 73
Diabetes Insipidus Nephrogenic 53 55
Diabetes Insipidus, Nephrogenic, Type Ii 57
Diabetes Insipidus Nephrogenic X-Linked 53
Diabetes Insipidus, Nephrogenic Type 2 76
Diabetes Insipidus Nephrogenic Type 1 53
Diabetes Insipidus Nephrogenic Type 2 75
Adh Resistant Diabetes Insipidus 53
Diabetes Insipidus Renalis 25
Andi 75
Ndi 25

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
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
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare renal diseases


Sources

Summaries for Diabetes Insipidus, Nephrogenic, Autosomal

About this section
NIH Rare Diseases : 53 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. 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 Conivaptan have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and liver, and related phenotypes are short stature and hypovolemia

OMIM : 57 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 : 75 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.

Genetics Home Reference : 25 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.

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

Wikipedia : 76 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

About this section

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

(show all 39)
# Related Disease Score Top Affiliating Genes
1 diabetes insipidus, nephrogenic, x-linked 35.3 AQP2 AVPR2
2 diabetes insipidus 29.7 AQP2 ARHGAP4 AVP AVPR2 CLCNKA SLC12A1
3 diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification 12.3
4 nephrogenic syndrome of inappropriate antidiuresis 10.7 AVP AVPR2
5 bronchus cancer 10.7 AVP AVPR2
6 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.6 AQP2 AVP
7 peripheral vertigo 10.6 AQP2 AVP
8 vestibular disease 10.6 AQP2 AVP
9 motion sickness 10.6 AQP1 AVP
10 idiopathic edema 10.6 AQP1 AQP2
11 familial hypocalciuric hypercalcemia 10.5 ARHGAP4 CASR
12 syndrome of inappropriate antidiuretic hormone 10.5 AQP2 AVP AVPR2
13 hydrarthrosis 10.3 AQP1 AQP3
14 bullous keratopathy 10.2 AQP3 MIP
15 hypokalemia 10.2 AQP2 CASR SLC12A1
16 bartter syndrome, type 1, antenatal 10.2 ATP6V0A4 SLC12A1
17 fanconi-like syndrome 10.1 ATP6V0A4 CASR
18 autosomal dominant polycystic kidney disease 10.1 AQP1 AQP2 AVP AVPR2
19 polyhydramnios 10.1 AQP1 AQP3 SLC12A1
20 urinary system disease 10.0 AQP2 ATP6V0A4 AVP
21 intracranial hypertension, idiopathic 10.0 AQP1 AQP4
22 subependymoma 10.0 AQP1 AQP4
23 acute hemorrhagic leukoencephalitis 9.9 AQP1 AQP4
24 bartter syndrome, type 3 9.9 ATP6V0A4 SLC12A1
25 spinal cord disease 9.9 AQP4 AVPR2
26 diabetes insipidus, neurohypophyseal 9.9 AQP2 AVP AVPR2 LNPEP
27 bartter disease 9.9 CASR CLCNKA SLC12A1
28 hydrops, lactic acidosis, and sideroblastic anemia 9.8 AQP4 MIP
29 leptospirosis 9.8 AQP1 SLC12A1
30 central pontine myelinolysis 9.7 AQP1 AQP4 AVP
31 mineral metabolism disease 9.7 ATP6V0A4 CASR
32 dysferlinopathy 9.7 AQP1 AQP4 MIP
33 brain edema 9.7 AQP1 AQP4 MIP
34 neuromyelitis optica 9.7 AQP1 AQP4
35 renal tubular transport disease 9.6 ATP6V0A4 CLCNKA SLC12A1
36 intracranial hypertension 9.5 AQP1 AQP4
37 inappropriate adh syndrome 9.2 AQP1 AQP2 AQP4 AVP AVPR2
38 meniere disease 8.9 AQP1 AQP2 AQP3 AQP4 MIP
39 impaired renal function disease 8.1 AQP1 AQP2 AQP3 ARHGAP4 ATP6V0A4 AVP

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

About this section

Symptoms via clinical synopsis from OMIM:

57
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

Genitourinary Kidneys:
polyuria

Metabolic Features:
hypertonic dehydration
unexplained fevers

Growth Other:
failure to thrive

Growth Height:
short stature

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


Clinical features from OMIM:

125800

Human phenotypes related to Diabetes Insipidus, Nephrogenic, Autosomal:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
2 hypovolemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011106
3 feeding difficulties 59 32 occasional (7.5%) Occasional (29-5%) HP:0011968
4 global developmental delay 59 32 very rare (1%) Very rare (<4-1%) HP:0001263
5 polyhydramnios 59 32 very rare (1%) Very rare (<4-1%) HP:0001561
6 enuresis nocturna 59 32 very rare (1%) Very rare (<4-1%) HP:0010677
7 nephrogenic diabetes insipidus 59 32 obligate (100%) Obligate (100%) HP:0009806
8 hyposthenuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003158
9 hypernatremia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003228
10 hypernatremic dehydration 59 32 hallmark (90%) Very frequent (99-80%) HP:0004906
11 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
12 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
13 polydipsia 59 32 frequent (33%) Frequent (79-30%) HP:0001959
14 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
15 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
16 anorexia 59 32 frequent (33%) Frequent (79-30%) HP:0002039
17 hydroureter 59 32 occasional (7.5%) Occasional (29-5%) HP:0000072
18 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
19 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
20 functional abnormality of the bladder 59 Occasional (29-5%)
21 growth delay 59 Occasional (29-5%)
22 megacystis 32 HP:0000021
23 polyuria 32 HP:0000103
24 irritability 32 HP:0000737
25 intellectual disability 32 HP:0001249
26 unexplained fevers 32 HP:0001955
27 hypertonic dehydration 32 HP:0001986
28 vomiting 32 HP:0002013
29 feeding difficulties in infancy 32 HP:0008872

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 AQP1 AQP2 AQP3 AQP4 ATP6V0A4 AVP
2 growth/size/body region MP:0005378 10.02 AQP1 AQP2 AQP3 AQP4 ATP6V0A4 AVPR2
3 homeostasis/metabolism MP:0005376 9.96 ATP6V0A4 AVP AVPR2 CASR LNPEP SLC12A1
4 mortality/aging MP:0010768 9.85 AQP1 AQP2 AQP3 AQP4 ATP6V0A4 AVP
5 renal/urinary system MP:0005367 9.61 AVPR2 CASR SLC12A1 AQP1 AQP2 AQP3
6 vision/eye MP:0005391 9.1 AQP1 AQP3 AQP4 CASR L1CAM MIP
Sources

Drugs & Therapeutics for Diabetes Insipidus, Nephrogenic, Autosomal

About this section

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

(show top 50) (show all 82)
# 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
Conivaptan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 210101-16-9 151171
3
Furosemide Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 54-31-9 3440
4
Chlorothiazide Approved, Vet_approved Phase 4 58-94-6 2720
5
Metolazone Approved Phase 4,Phase 1 17560-51-9 4170
6 Arginine Vasopressin Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
7 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
8 Liver Extracts Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
9 Natriuretic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
10 Vasopressins Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
11 diuretics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
12 Sodium Potassium Chloride Symporter Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
13 Coagulants Phase 4,Phase 3,Phase 2,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 Pharmaceutical Solutions Phase 4
17 Antihypertensive Agents Phase 4,Phase 1,Not Applicable
18 Torsemide Phase 4
19 Sodium Chloride Symporter Inhibitors Phase 4,Phase 1,Not Applicable
20 arginine Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
21
Midodrine Approved Phase 2, Phase 3 133163-28-7, 42794-76-3 4195
22
Spironolactone Approved Phase 2, Phase 3,Not Applicable 1952-01-7, 52-01-7 5833
23 Neurotransmitter Agents Phase 2, Phase 3,Not Applicable
24
Satavaptan Phase 3,Phase 2 185913-78-4 7029
25 Adrenergic Agents Phase 2, Phase 3
26 Adrenergic Agonists Phase 2, Phase 3
27 Adrenergic alpha-Agonists Phase 2, Phase 3
28 Autonomic Agents Phase 2, Phase 3
29 Diuretics, Potassium Sparing Phase 2, Phase 3,Not Applicable
30 Hormone Antagonists Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
32 Mineralocorticoid Receptor Antagonists Phase 2, Phase 3,Not Applicable
33 Mineralocorticoids Phase 2, Phase 3,Not Applicable
34 Peripheral Nervous System Agents Phase 2, Phase 3,Not Applicable
35
Nitric Oxide Approved Phase 2 10102-43-9 145068 160954
36
Phentermine Approved, Illicit Phase 2 122-09-8 4771
37
Mannitol Approved, Investigational Phase 2,Not Applicable 69-65-8 453 6251
38 Anti-Asthmatic Agents Phase 2
39 Antioxidants Phase 2
40 Bronchodilator Agents Phase 2
41 Endothelium-Dependent Relaxing Factors Phase 2
42 omega-N-Methylarginine Phase 2
43 Protective Agents Phase 2
44 Respiratory System Agents Phase 2
45 Vasodilator Agents Phase 2,Not Applicable
46 SRX246 Phase 1, Phase 2,Phase 2
47 Calcium, Dietary Phase 2,Phase 1
48 Anticholesteremic Agents Phase 2
49 Antimetabolites Phase 2
50 Atorvastatin Calcium Phase 2 134523-03-8

Interventional clinical trials:

(show top 50) (show all 139)
# 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 Effects of Tolvaptan in Healthy Adults Completed NCT01973140 Phase 4 Tolvaptan;Hypertonic saline infusion
4 Effect of Tolvaptan on Mid- to Long-term Prognosis of Heart Failure Patients Completed NCT01439009 Phase 4 Tolvaptan;Placebo of tolvaptan
5 Tolvaptan for Ascites in Cirrhotic Patients Completed NCT01292304 Phase 4 Tolvaptan
6 Tolvaptan in Hyponatremic Cancer Patients Completed NCT01199198 Phase 4 Tolvaptan;Placebo
7 A Study of Multiple Dosing Regimens of IV Conivaptan in Subjects With Euvolemic or Hypervolemic Hyponatremia Completed NCT00435591 Phase 4 Conivaptan;placebo
8 Tolvaptan/Ultrafiltration in the Treatment of Acute Heart Failure Completed NCT01863511 Phase 4 loop diuretic;tolvaptan
9 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
10 Pilot Study of Using Copeptin to Predict Response to Tolvaptan Completed NCT01346072 Phase 4 tolvaptan
11 Effects on Exercise Hemodynamics of Vasopressin Blockade by Conivaptan Infusion in Heart Failure Patients Completed NCT01752543 Phase 4 Conivaptan;Placebo (Dextrose)
12 Regional Tolvaptan Registry Recruiting NCT02666651 Phase 4 Tolvaptan
13 Tolvaptan for Advanced or Refractory Heart Failure Recruiting NCT02959411 Phase 4 Tolvaptan;Standard of care diuretic therapy
14 Tolvaptan For Worsening Outpatient Heart Failure: Role of Copeptin In Identifying Responders Recruiting NCT02476409 Phase 4 tolvaptan
15 Aquaresis Utility for Hyponatremic Acute Heart Failure Study Recruiting NCT02183792 Phase 4 Tolvaptan;Furosemide
16 Comparison of Oral or Intravenous Thiazides vs Tolvaptan in Diuretic Resistant Decompensated Heart Failure Enrolling by invitation NCT02606253 Phase 4 tolvaptan;Chlorothiazide;Metolazone
17 Outcome and Treatment Quality Study of Tolvaptan to Treat Hyponatremia in Patients With Heart Failure Terminated NCT02352285 Phase 4 Tolvaptan;Placebo
18 Tolvaptan to Reduce Length of Stay in Hospitalized Patients With Cirrhosis and Hyponatremia Terminated NCT01890694 Phase 4 Tolvaptan;Placebo
19 Use of Conivaptan (Vaprisol) for Hyponatremic Neuro-ICU Patients Terminated NCT00727090 Phase 4 Conivaptan
20 The Use of Tolvaptan to Prevent Renal Dysfunction in High Risk Patients With Heart Failure-Pilot Study Withdrawn NCT01663662 Phase 4 Tolvaptan;placebo
21 Diuretic and Renal Effects of Vaprisol When Administered Along With Furosemide and Nesiritide Continuous Infusion Withdrawn NCT00806910 Phase 4 Conivaptan
22 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
23 Acute Heart Failure Patients With High Copeptin Treated With Tolvaptan Targets Increased AVP Activation for Treatment (ACTIVATE) Unknown status NCT01733134 Phase 3 Tolvaptan;placebo
24 DILIPO (DILutIonal HyPOnatremia) Completed NCT00274326 Phase 3 SR121463B
25 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
26 International, Multicenter, Study of One-year, Open-label, Titrated Oral Tolvaptan Tablet Administration in Patients With Chronic Hyponatremia Completed NCT02449044 Phase 3 Tolvaptan
27 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
28 Efficacy and Safety Study of Tolvaptan to Treat Patients With Cardiac Edema Completed NCT01651156 Phase 3 Tolvaptan;Placebo
29 Efficacy and Safety of Tolvaptan in the Treatment of Cardiac-Induced Edema in Patients With Heart Failure Completed NCT01618448 Phase 3 Tolvaptan;Placebo
30 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
31 Effect of Tolvaptan on Cognitive Function in Cirrhosis Completed NCT01556646 Phase 3 Tolvaptan
32 Phase III Study of Tolvaptan Tablet to Treat Cirrhosis Ascites Completed NCT01349348 Phase 3 Tolvaptan;Tolvaptan;placebo
33 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
34 Open-Label Tolvaptan Study in Subjects With ADPKD Completed NCT01214421 Phase 3 Tolvaptan
35 A Study to Investigate Pharmacodynamics and Pharmacokinetics of OPC-41061 in Patients With Hepatic Edema Completed NCT01114828 Phase 3 OPC-41061;OPC-41061
36 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
37 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
38 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
39 Effects of Titrated Oral Tolvaptan 15-60 mg Once Daily (QD) on Cognitive and Neurological Function in Elderly Hyponatremic Patients Completed NCT00550459 Phase 3 Tolvaptan;Placebo
40 A Study of OPC-41061 in Subjects With Cardiac-induced Edema (Congestive Heart Failure) Completed NCT00544869 Phase 3 OPC-41061 （Tolvaptan)
41 A Clinical Pharmacological Study of OPC-41061 in the Treatment of Cardiac Edema (Congestive Heart Failure) Completed NCT00525265 Phase 3 OPC-41061(Tolvaptan);Placebo
42 Study of Efficacy & Safety of Oral YM087 in Subjects With Euvolemic or Hypervolemic Hyponatremia Completed NCT00492037 Phase 3 YM087 oral
43 Study of Efficacy & Safety for 3 Infusion Regimens of IV Conivaptan in Subjects With Euvolemic or Hypervolemic Hyponatremia Completed NCT00478192 Phase 3 Conivaptan;Placebo
44 A Double-blind, Placebo-controlled Study of OPC-41061 in the Treatment of Cardiac Edema (Congestive Heart Failure) Completed NCT00462670 Phase 3 OPC-41061(Tolvaptan)
45 Tolvaptan Phase 3 Efficacy and Safety Study in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00428948 Phase 3 Tolvaptan;Placebo
46 Study of IV YM087 to Assess Efficacy and Safety in Patients With Euvolemic or Hypervolemic Hyponatremia Completed NCT00380575 Phase 3 YM087
47 An Open-Label Study of YM087 (Conivaptan) in Patients With Euvolemic or Hypervolemic Hyponatremia Completed NCT00379847 Phase 3 conivaptan
48 Cirrhotic Ascites Treatment With Satavaptan in Patients With Ascites Due to Cirrhosis of the Liver (CATS) Completed NCT00358878 Phase 3 Satavaptan;placebo
49 "SALT-2 Trial" Study of Ascending Levels of Tolvaptan in Hyponatremia Completed NCT00201994 Phase 3 Tolvaptan
50 “SALT Trial” Study of Ascending Levels of Tolvaptan in Hyponatremia Completed NCT00072683 Phase 3 tolvaptan

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 29 AQP2
2 Nephrogenic Diabetes Insipidus, X-Linked 29 AVPR2
3 Nephrogenic Diabetes Insipidus 29
Sources

Anatomical Context for Diabetes Insipidus, Nephrogenic, Autosomal

About this section

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

41
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 567)
# Title Authors Year
1
Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree. ( 29394883 )
2018
2
Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus. ( 29594432 )
2018
3
AKAPs-PKA disruptors increase AQP2 activity independently of vasopressin in a model of nephrogenic diabetes insipidus. ( 29650969 )
2018
4
Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus. ( 29527380 )
2018
5
Systemic lupus erythematosus with SjAPgren's syndrome and renal tubular acidosis presenting as nephrogenic diabetes insipidus. ( 29657217 )
2018
6
Nephrogenic diabetes insipidus in initial stage of acute lymphoblastic leukemia and relapse after haploidentical hematopoietic stem-cell transplantation: A case report. ( 29901649 )
2018
7
Functional characterization of AVPR2 mutants found in Turkish patients with nephrogenic diabetes insipidus. ( 29117938 )
2018
8
Tamoxifen attenuates development of lithium-induced nephrogenic diabetes insipidus in rats. ( 29357422 )
2018
9
Treatment of congenital nephrogenic diabetes insipidus in pregnancy. ( 29512817 )
2018
10
Treatment regimens by pediatric nephrologists in children with congenital nephrogenic diabetes insipidus: A MWPNC studya8c. ( 29162216 )
2017
11
Novel<i>de novo AVPR2</i>Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus. ( 29177155 )
2017
12
Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update. ( 29125546 )
2017
13
A novel SLC12A1 gene mutation associated with hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis in four patients. ( 28095294 )
2017
14
Congenital nephrogenic diabetes insipidus in the Corpus Hippocraticum: The first description. ( 28742510 )
2017
15
Value of Renal Biopsy in Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus. ( 28276300 )
2017
16
Congenital nephrogenic diabetes insipidus complicated with Hinman syndrome. ( 28504419 )
2017
17
A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers. ( 26795631 )
2016
18
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
19
Partial Nephrogenic Diabetes Insipidus in a Burned Patient Receiving Sevoflurane Sedation With an Anaesthetic Conserving Device-A Case Report. ( 27414478 )
2016
20
Signaling Modification by GPCR Heteromer and Its Implication on X-Linked Nephrogenic Diabetes Insipidus. ( 27649563 )
2016
21
Acetazolamide in Lithium-Induced Nephrogenic Diabetes Insipidus. ( 27959610 )
2016
22
Metformin improves urine concentration in rodents with nephrogenic diabetes insipidus. ( 27478876 )
2016
23
[Analysis of AVPR2 gene mutation in a pedigree affected with congenital nephrogenic diabetes insipidus]. ( 27577218 )
2016
24
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
25
A novel AVPR2 gene mutation of X-linked congenital nephrogenic diabetes insipidus in an Asian pedigree. ( 27565746 )
2016
26
Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family. ( 26974133 )
2016
27
An unusual case of hereditary nephrogenic diabetes insipidus (HNDI) affecting mother and daughter. ( 26244674 )
2016
28
Identification of Potential Pharmacoperones Capable of Rescuing the Functionality of Misfolded Vasopressin 2 Receptor Involved in Nephrogenic Diabetes Insipidus. ( 27280550 )
2016
29
Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant). ( 27156763 )
2016
30
Bendamustine-Induced Nephrogenic Diabetes Insipidus inA aA Patient With AL Amyloidosis. ( 27780577 )
2016
31
4-PBA Improves Lithium-induced Nephrogenic Diabetes Insipidus by Attenuating ER Stress. ( 27385737 )
2016
32
Physiological insights into novel therapies for nephrogenic diabetes insipidus. ( 27534996 )
2016
33
The Value Of Renal Biopsy In Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus. ( 26580242 )
2015
34
Autophagic degradation of aquaporin-2 is an early event in hypokalemia-induced nephrogenic diabetes insipidus. ( 26674602 )
2015
35
P2Y12 Receptor Localizes in the Renal Collecting Duct and Its Blockade Augments Arginine Vasopressin Action and Alleviates Nephrogenic Diabetes Insipidus. ( 25855780 )
2015
36
A novel therapeutic effect of statins on nephrogenic diabetes insipidus. ( 25594563 )
2015
37
A Case of Nephrogenic Diabetes Insipidus During Transsphenoidal Pituitary Adenomectomy. ( 25844954 )
2015
38
Congenital nephrogenic diabetes insipidus with end-stage renal disease. ( 25750571 )
2015
39
Acetazolamide Attenuates Lithium-Induced Nephrogenic Diabetes Insipidus. ( 26574046 )
2015
40
Antenatal Bartter syndrome resembling nephrogenic diabetes insipidus in a 5-year-old boy. ( 25935500 )
2015
41
Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study. ( 25902753 )
2015
42
The AQP2 mutation V71M causes nephrogenic diabetes insipidus in humans but does not impair the function of a bacterial homolog. ( 26442203 )
2015
43
Partial nephrogenic diabetes insipidus caused by a novel AQP2 variation impairing trafficking of the aquaporin-2 water channel. ( 26714855 )
2015
44
Lithium-associated primary hyperparathyroidism complicated by nephrogenic diabetes insipidus. ( 26504422 )
2015
45
Defective Store-Operated Calcium Entry Causes Partial Nephrogenic Diabetes Insipidus. ( 26574044 )
2015
46
Targeting Renal Purinergic Signalling for the Treatment of Lithium-induced Nephrogenic Diabetes Insipidus. ( 25877068 )
2015
47
Mechanisms of prolonged lithium therapy-induced nephrogenic diabetes insipidus. ( 25746463 )
2015
48
Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus. ( 26077742 )
2015
49
Transient nephrogenic diabetes insipidus caused by fetal exposure to haloperidol. ( 24673433 )
2014
50
Combination of secretin and fluvastatin ameliorates the polyuria associated with X-linked nephrogenic diabetes insipidus in mice. ( 24522493 )
2014
Sources

Variations for Diabetes Insipidus, Nephrogenic, Autosomal

About this section

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

75 (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
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

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

6
(show top 50) (show all 230)
# Gene Variation Type Significance SNP ID Assembly Location
1 AVPR2 AVPR2, 1-BP DEL, 733G deletion Pathogenic
2 AVPR2 NM_000054.4(AVPR2): c.395C> A (p.Ala132Asp) single nucleotide variant Pathogenic rs104894747 GRCh37 Chromosome X, 153171355: 153171355
3 AVPR2 NM_000054.4(AVPR2): c.395C> A (p.Ala132Asp) single nucleotide variant Pathogenic rs104894747 GRCh38 Chromosome X, 153905901: 153905901
4 AVPR2 NM_000054.4(AVPR2): c.553G> T (p.Gly185Cys) single nucleotide variant Pathogenic rs104894748 GRCh37 Chromosome X, 153171513: 153171513
5 AVPR2 NM_000054.4(AVPR2): c.553G> T (p.Gly185Cys) single nucleotide variant Pathogenic rs104894748 GRCh38 Chromosome X, 153906059: 153906059
6 AVPR2 NM_000054.4(AVPR2): c.614A> G (p.Tyr205Cys) single nucleotide variant Pathogenic rs104894749 GRCh37 Chromosome X, 153171574: 153171574
7 AVPR2 NM_000054.4(AVPR2): c.614A> G (p.Tyr205Cys) single nucleotide variant Pathogenic rs104894749 GRCh38 Chromosome X, 153906120: 153906120
8 AVPR2 NM_000054.4(AVPR2): c.607C> T (p.Arg203Cys) single nucleotide variant Pathogenic rs104894750 GRCh37 Chromosome X, 153171567: 153171567
9 AVPR2 NM_000054.4(AVPR2): c.607C> T (p.Arg203Cys) single nucleotide variant Pathogenic rs104894750 GRCh38 Chromosome X, 153906113: 153906113
10 AVPR2 NM_000054.4(AVPR2): c.337C> T (p.Arg113Trp) single nucleotide variant Pathogenic rs28935496 GRCh37 Chromosome X, 153171297: 153171297
11 AVPR2 NM_000054.4(AVPR2): c.337C> T (p.Arg113Trp) single nucleotide variant Pathogenic rs28935496 GRCh38 Chromosome X, 153905843: 153905843
12 AVPR2 AVPR2, 1-BP INS insertion Pathogenic
13 AVPR2 NM_000054.4(AVPR2): c.213G> A (p.Trp71Ter) single nucleotide variant Pathogenic rs104894751 GRCh37 Chromosome X, 153171173: 153171173
14 AVPR2 NM_000054.4(AVPR2): c.213G> A (p.Trp71Ter) single nucleotide variant Pathogenic rs104894751 GRCh38 Chromosome X, 153905719: 153905719
15 AVPR2 NM_000054.4(AVPR2): c.839A> G (p.Tyr280Cys) single nucleotide variant Pathogenic rs104894752 GRCh37 Chromosome X, 153171799: 153171799
16 AVPR2 NM_000054.4(AVPR2): c.839A> G (p.Tyr280Cys) single nucleotide variant Pathogenic rs104894752 GRCh38 Chromosome X, 153906345: 153906345
17 AVPR2 NM_000054.4(AVPR2): c.1009C> T (p.Arg337Ter) single nucleotide variant Pathogenic rs104894753 GRCh37 Chromosome X, 153172075: 153172075
18 AVPR2 NM_000054.4(AVPR2): c.1009C> T (p.Arg337Ter) single nucleotide variant Pathogenic rs104894753 GRCh38 Chromosome X, 153906621: 153906621
19 AVPR2 NM_000054.4(AVPR2): c.253G> A (p.Asp85Asn) single nucleotide variant Pathogenic rs104894754 GRCh37 Chromosome X, 153171213: 153171213
20 AVPR2 NM_000054.4(AVPR2): c.253G> A (p.Asp85Asn) single nucleotide variant Pathogenic rs104894754 GRCh38 Chromosome X, 153905759: 153905759
21 AVPR2 NM_000054.4(AVPR2): c.602G> A (p.Gly201Asp) single nucleotide variant Pathogenic rs104894755 GRCh37 Chromosome X, 153171562: 153171562
22 AVPR2 NM_000054.4(AVPR2): c.602G> A (p.Gly201Asp) single nucleotide variant Pathogenic rs104894755 GRCh38 Chromosome X, 153906108: 153906108
23 AVPR2 AVPR2, 1-BP INS, 804G insertion Pathogenic
24 AVPR2 AVPR2, 1-BP DEL, 102G deletion Pathogenic
25 AVPR2 NM_000054.4(AVPR2): c.410G> A (p.Arg137His) single nucleotide variant Pathogenic rs104894756 GRCh37 Chromosome X, 153171370: 153171370
26 AVPR2 NM_000054.4(AVPR2): c.410G> A (p.Arg137His) single nucleotide variant Pathogenic rs104894756 GRCh38 Chromosome X, 153905916: 153905916
27 AVPR2 NM_000054.4(AVPR2): c.541C> T (p.Arg181Cys) single nucleotide variant Pathogenic rs104894757 GRCh37 Chromosome X, 153171501: 153171501
28 AVPR2 NM_000054.4(AVPR2): c.541C> T (p.Arg181Cys) single nucleotide variant Pathogenic rs104894757 GRCh38 Chromosome X, 153906047: 153906047
29 AVPR2 NM_000054.4(AVPR2): c.313T> G (p.Phe105Val) single nucleotide variant Pathogenic rs104894758 GRCh37 Chromosome X, 153171273: 153171273
30 AVPR2 NM_000054.4(AVPR2): c.313T> G (p.Phe105Val) single nucleotide variant Pathogenic rs104894758 GRCh38 Chromosome X, 153905819: 153905819
31 AVPR2 NM_000054.4(AVPR2): c.137T> A (p.Ile46Lys) single nucleotide variant Pathogenic rs104894759 GRCh37 Chromosome X, 153171097: 153171097
32 AVPR2 NM_000054.4(AVPR2): c.137T> A (p.Ile46Lys) single nucleotide variant Pathogenic rs104894759 GRCh38 Chromosome X, 153905643: 153905643
33 AVPR2 NM_000054.4(AVPR2): c.310C> T (p.Arg104Cys) single nucleotide variant Pathogenic rs104894760 GRCh37 Chromosome X, 153171270: 153171270
34 AVPR2 NM_000054.4(AVPR2): c.310C> T (p.Arg104Cys) single nucleotide variant Pathogenic rs104894760 GRCh38 Chromosome X, 153905816: 153905816
35 AQP2 NM_000486.5(AQP2): c.559C> T (p.Arg187Cys) single nucleotide variant Pathogenic rs104894328 GRCh37 Chromosome 12, 50348446: 50348446
36 AQP2 NM_000486.5(AQP2): c.559C> T (p.Arg187Cys) single nucleotide variant Pathogenic rs104894328 GRCh38 Chromosome 12, 49954663: 49954663
37 AQP2 NM_000486.5(AQP2): c.439G> A (p.Ala147Thr) single nucleotide variant Pathogenic rs104894334 GRCh37 Chromosome 12, 50348016: 50348016
38 AQP2 NM_000486.5(AQP2): c.439G> A (p.Ala147Thr) single nucleotide variant Pathogenic rs104894334 GRCh38 Chromosome 12, 49954233: 49954233
39 AQP2 NM_000486.5(AQP2): c.223T> G (p.Cys75Gly) single nucleotide variant Likely pathogenic rs193922494 GRCh37 Chromosome 12, 50344836: 50344836
40 AQP2 NM_000486.5(AQP2): c.223T> G (p.Cys75Gly) single nucleotide variant Likely pathogenic rs193922494 GRCh38 Chromosome 12, 49951053: 49951053
41 AQP2 NM_000486.5(AQP2): c.560G> A (p.Arg187His) single nucleotide variant Likely pathogenic rs193922495 GRCh37 Chromosome 12, 50348447: 50348447
42 AQP2 NM_000486.5(AQP2): c.560G> A (p.Arg187His) single nucleotide variant Likely pathogenic rs193922495 GRCh38 Chromosome 12, 49954664: 49954664
43 AQP2 NM_000486.5(AQP2): c.785delC (p.Pro262Argfs) deletion Likely pathogenic rs193922496 GRCh37 Chromosome 12, 50349360: 50349360
44 AQP2 NM_000486.5(AQP2): c.785delC (p.Pro262Argfs) deletion Likely pathogenic rs193922496 GRCh38 Chromosome 12, 49955577: 49955577
45 AVPR2 NM_000054.4(AVPR2): c.176T> C (p.Leu59Pro) single nucleotide variant Likely pathogenic rs193922112 GRCh37 Chromosome X, 153171136: 153171136
46 AVPR2 NM_000054.4(AVPR2): c.176T> C (p.Leu59Pro) single nucleotide variant Likely pathogenic rs193922112 GRCh38 Chromosome X, 153905682: 153905682
47 AVPR2 NM_000054.4(AVPR2): c.290T> C (p.Leu97Pro) single nucleotide variant Likely pathogenic rs193922113 GRCh37 Chromosome X, 153171250: 153171250
48 AVPR2 NM_000054.4(AVPR2): c.290T> C (p.Leu97Pro) single nucleotide variant Likely pathogenic rs193922113 GRCh38 Chromosome X, 153905796: 153905796
49 AVPR2 NM_000054.4(AVPR2): c.409C> G (p.Arg137Gly) single nucleotide variant Likely pathogenic rs104894761 GRCh37 Chromosome X, 153171369: 153171369
50 AVPR2 NM_000054.4(AVPR2): c.409C> G (p.Arg137Gly) single nucleotide variant Likely pathogenic rs104894761 GRCh38 Chromosome X, 153905915: 153905915
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

About this section

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

37
# 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 66
Show member pathways
 12.98 AQP1 AQP2 AQP3 AQP4 ATP6V0A4 AVP
2
Aquaporin-mediated transport 66
Show member pathways
 11.91 AQP1 AQP2 AQP3 AQP4 AVP AVPR2
3
Diuretics Pathway, Pharmacodynamics 61
10.72 CLCNKA SLC12A1
4
Vasopressin-regulated water reabsorption 37
10.66 AQP2 AQP3 AQP4 AVP AVPR2
Sources

GO Terms for Diabetes Insipidus, Nephrogenic, Autosomal

About this section

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.93 AQP1 AQP2 AQP3 AQP4 ATP6V0A4 AVPR2
2 integral component of plasma membrane GO:0005887 9.86 AQP1 AQP2 AQP4 AVPR2 CASR CLCNKA
3 basolateral plasma membrane GO:0016323 9.35 AQP1 AQP2 AQP3 AQP4 CASR
4 apical plasma membrane GO:0016324 9.1 AQP1 AQP2 ATP6V0A4 CASR MIP SLC12A1
5 membrane GO:0016020 10.15 AQP1 AQP2 AQP3 AQP4 ATP6V0A4 AVPR2
6 integral component of membrane GO:0016021 10.1 AQP1 AQP2 AQP3 AQP4 ATP6V0A4 AVPR2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.95 AQP1 AQP2 AQP3 AQP4 CLCNKA MIP
2 ion transmembrane transport GO:0034220 9.8 AQP1 AQP2 AQP4 ATP6V0A4 CLCNKA MIP
3 membrane organization GO:0061024 9.71 AVP AVPR2 LNPEP
4 cellular response to hypoxia GO:0071456 9.69 AQP1 AQP3 CASR
5 positive regulation of vasoconstriction GO:0045907 9.65 AVP AVPR2 CASR
6 odontogenesis GO:0042476 9.56 AQP1 AQP3
7 cellular response to copper ion GO:0071280 9.55 AQP1 AQP2
8 excretion GO:0007588 9.55 AQP2 AQP3 ATP6V0A4 AVPR2 CLCNKA
9 multicellular organismal water homeostasis GO:0050891 9.54 AQP1 AQP4 AVP
10 cell volume homeostasis GO:0006884 9.52 AQP1 SLC12A1
11 glycerol transport GO:0015793 9.5 AQP1 AQP2 AQP3
12 positive regulation of systemic arterial blood pressure GO:0003084 9.49 AVP AVPR2
13 cellular response to mercury ion GO:0071288 9.46 AQP1 AQP2
14 renal water transport GO:0003097 9.43 AQP1 AQP2
15 renal water homeostasis GO:0003091 9.43 AQP1 AQP2 AQP3 AQP4 AVP AVPR2
16 water transport GO:0006833 9.1 AQP1 AQP2 AQP3 AQP4 AVP MIP

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 9.35 AQP1 AQP2 AQP3 AQP4 MIP
2 water transmembrane transporter activity GO:0005372 9.33 AQP1 AQP2 AQP4
3 glycerol transmembrane transporter activity GO:0015168 9.26 AQP1 AQP2
4 water channel activity GO:0015250 9.02 AQP1 AQP2 AQP3 AQP4 MIP
Sources

Sources for Diabetes Insipidus, Nephrogenic, Autosomal

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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
Content
Loading form....