ANDI
MCID: DBT088
MIFTS: 56

Diabetes Insipidus, Nephrogenic (ANDI) malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Diabetes Insipidus, Nephrogenic

Aliases & Descriptions for Diabetes Insipidus, Nephrogenic:

Name: Diabetes Insipidus, Nephrogenic 54 54 25 13 13 42
Nephrogenic Diabetes Insipidus 12 23 50 24 25 56 14 69
Vasopressin-Resistant Diabetes Insipidus 12 50 25
Diabetes Insipidus Nephrogenic 50 29 52
Diabetes Insipidus, Nephrogenic, Autosomal 66 29
Congenital Nephrogenic Diabetes Insipidus 25 69
Diabetes Insipidus, Nephrogenic, X-Linked 66 29
Diabetes Insipidus Nephrogenic Type 1 50 66
Adh-Resistant Diabetes Insipidus 25 69
Ndi 24 25
Nephrogenic Diabetes Insipidus, Autosomal 24
Nephrogenic Diabetes Insipidus, X-Linked 24
Diabetes Insipidus Nephrogenic X-Linked 50
Diabetes Insipidus Nephrogenic Type 2 66
Adh Resistant Diabetes Insipidus 50
Diabetes Insipidus Renalis 25
Ndi, Autosomal 24
Ndi, X-Linked 24
Andi 66
Xndi 66

Characteristics:

Orphanet epidemiological data:

56
nephrogenic diabetes insipidus
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000; Age of onset: Infancy,Neonatal;

HPO:

32

Classifications:

Orphanet: 56  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:12387
ICD10 33 N25.1
ICD9CM 35 588.1
MeSH 42 D018500
NCIt 47 C84919
SNOMED-CT 64 111395007 123294004
Orphanet 56 ORPHA223
MESH via Orphanet 43 D018500
UMLS via Orphanet 70 C0162283
ICD10 via Orphanet 34 N25.1
UMLS 69 C0162283

Summaries for Diabetes Insipidus, Nephrogenic

NIH Rare Diseases : 50 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. last updated: 12/23/2016

MalaCards based summary : Diabetes Insipidus, Nephrogenic, also known as nephrogenic diabetes insipidus, is related to diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification and diabetes insipidus, neurohypophyseal, and has symptoms including constipation, fever and seizures. An important gene associated with Diabetes Insipidus, Nephrogenic is AVPR2 (Arginine Vasopressin Receptor 2), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Aquaporin-mediated transport. The drugs Furosemide and Conivaptan have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related phenotypes are behavior/neurological and growth/size/body region

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

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.

OMIM : 54 Nephrogenic diabetes insipidus is caused by the inability of the renal collecting ducts to absorb water in response to... (125800) more...

UniProtKB/Swiss-Prot : 66 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. Diabetes insipidus, nephrogenic, X-linked: 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.

Wikipedia : 71 Nephrogenic diabetes insipidus (also known as renal diabetes insipidus) is a form of diabetes insipidus... more...

GeneReviews: NBK1177

Related Diseases for Diabetes Insipidus, Nephrogenic

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

(show all 27)
id Related Disease Score Top Affiliating Genes
1 diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification 12.2
2 diabetes insipidus, neurohypophyseal 10.8
3 diabetes insipidus 10.5
4 chromosome xq28 duplication syndrome 10.3 AVP AVPR2
5 diverticulitis of colon 10.2 AVP AVPR2
6 syringomelia hyperkeratosis 10.2 AQP2 AVP AVPR2
7 major affective disorder 2 10.2 ARHGAP4 L1CAM
8 cataract 29, coralliform 10.1 AQP2 AVP
9 kidney leiomyosarcoma 10.1 AQP1 AQP3
10 mixed lacrimal gland cancer 10.1 AQP1 AVP
11 laryngitis 10.1 AQP1 AQP2 AVP
12 iida kannari syndrome 10.1 AQP1 AQP2
13 cascade stomach 10.1 AQP1 AQP3
14 childhood brainstem astrocytoma 10.1 AQP1 AQP4
15 superior vena cava syndrome 10.1 AQP1 AQP4
16 impetigo 10.1 AQP1 AQP3 SLC12A1
17 calcinosis 10.0 AQP2 ATP6V0A4 AVP
18 intestinal disaccharidase deficiency 10.0 AQP2 AVP
19 ehlers-danlos syndrome, kyphoscoliotic form 10.0 AQP1 AQP4 MIP
20 kindler syndrome 10.0 AQP2 AVP AVPR2 LNPEP
21 histiocytoid hemangioma 10.0 AQP1 AQP4 MIP
22 ovarian disease 10.0 AQP1 AQP4
23 glossopharyngeal nerve neoplasm 9.9 AQP2 AQP4 AVP AVPR2
24 urethral gland abscess 9.6 AQP1 AQP2 AQP3 AQP4 AQP7 MIP
25 fatty liver disease 9.5 AQP2 AQP3 ARHGAP4 AVP AVPR2 CLCNKA
26 prediabetes syndrome 9.3 AQP1 AQP2 AQP3 ARHGAP4 ATP6V0A4 AVP
27 basal cell carcinoma 4 8.3 AQP1 AQP2 AQP3 AQP4 AQP7 ARHGAP4

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


Acute Cystitis Bipolar Disorder
Diabetes Insipidus

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



Diseases related to Diabetes Insipidus, Nephrogenic

Symptoms & Phenotypes for Diabetes Insipidus, Nephrogenic

Symptoms by clinical synopsis from OMIM:

125800 304800

Clinical features from OMIM:

125800 304800

Human phenotypes related to Diabetes Insipidus, Nephrogenic:

56 32 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 56 32 Frequent (79-30%) HP:0002019
2 fever 56 32 Frequent (79-30%) HP:0001945
3 seizures 56 32 Occasional (29-5%) HP:0001250
4 nausea and vomiting 56 32 Frequent (79-30%) HP:0002017
5 polydipsia 56 32 Frequent (79-30%) HP:0001959
6 failure to thrive 56 32 Frequent (79-30%) HP:0001508
7 global developmental delay 56 32 Very rare (<4-1%) HP:0001263
8 short stature 56 32 Occasional (29-5%) HP:0004322
9 renal insufficiency 56 32 Occasional (29-5%) HP:0000083
10 nephrogenic diabetes insipidus 56 32 Obligate (100%) HP:0009806
11 feeding difficulties 56 32 Occasional (29-5%) HP:0011968
12 anorexia 56 32 Frequent (79-30%) HP:0002039
13 polyhydramnios 56 32 Very rare (<4-1%) HP:0001561
14 hydroureter 56 32 Occasional (29-5%) HP:0000072
15 hypovolemia 56 32 Occasional (29-5%) HP:0011106
16 enuresis nocturna 56 32 Very rare (<4-1%) HP:0010677
17 hyposthenuria 56 32 Very frequent (99-80%) HP:0003158
18 hypernatremia 56 32 Very frequent (99-80%) HP:0003228
19 hypernatremic dehydration 56 32 Very frequent (99-80%) HP:0004906
20 vomiting 32 HP:0002013
21 polyuria 32 HP:0000103
22 intellectual disability 32 HP:0001249
23 feeding difficulties in infancy 32 HP:0008872
24 irritability 32 HP:0000737
25 growth delay 56 Occasional (29-5%)
26 diabetes insipidus 32 HP:0000873
27 megacystis 32 HP:0000021
28 functional abnormality of the bladder 56 Occasional (29-5%)
29 unexplained fevers 32 HP:0001955
30 hypertonic dehydration 32 HP:0001986

MGI Mouse Phenotypes related to Diabetes Insipidus, Nephrogenic:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 L1CAM LNPEP SLC12A1 AQP1 AQP2 AQP3
2 growth/size/body region MP:0005378 9.81 AQP1 AQP2 AQP3 AQP4 AQP7 ATP6V0A4
3 homeostasis/metabolism MP:0005376 9.65 AQP1 AQP2 AQP3 AQP4 AQP7 ATP6V0A4
4 renal/urinary system MP:0005367 9.28 AQP1 AQP2 AQP3 AQP4 AQP7 ATP6V0A4

Drugs & Therapeutics for Diabetes Insipidus, Nephrogenic

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

(show top 50) (show all 82)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Furosemide Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 54-31-9 3440
2
Conivaptan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 210101-16-9 151171
3
Tolvaptan Approved Phase 4,Phase 3,Phase 2,Phase 1 150683-30-0 216237
4
Chlorothiazide Approved, Vet_approved Phase 4 58-94-6 2720
5
Metolazone Approved Phase 4,Phase 1 17560-51-9 4170
6 diuretics Phase 4,Phase 3,Phase 2,Phase 1
7 Natriuretic Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Sodium Potassium Chloride Symporter Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
9 Hormones Phase 4,Phase 3,Phase 2,Phase 1
10 Vasopressins Phase 4,Phase 3,Phase 2,Phase 1
11 Liver Extracts Phase 4,Phase 3,Phase 2,Phase 1
12 Arginine Vasopressin Phase 4,Phase 3,Phase 2,Phase 1
13 Coagulants Phase 4,Phase 3,Phase 2,Phase 1
14 Sodium Chloride Symporter Inhibitors Phase 4,Phase 1
15 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1
16 Torsemide Phase 4
17 Vasoconstrictor Agents Phase 4,Phase 3,Phase 2,Phase 1
18 Pharmaceutical Solutions Phase 4
19 Antihypertensive Agents Phase 4,Phase 1
20 arginine Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1
21
Spironolactone Approved Phase 2, Phase 3 1952-01-7, 52-01-7 5833
22
Midodrine Approved Phase 2, Phase 3 133163-28-7, 42794-76-3 4195
23 Neurotransmitter Agents Phase 2, Phase 3
24
Satavaptan Phase 3,Phase 2 185913-78-4 7029
25 Hormone Antagonists Phase 3,Phase 2,Phase 1
26 Diuretics, Potassium Sparing Phase 2, Phase 3
27 Peripheral Nervous System Agents Phase 2, Phase 3
28 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1
29 Autonomic Agents Phase 2, Phase 3
30 Adrenergic Agents Phase 2, Phase 3
31 Adrenergic Agonists Phase 2, Phase 3
32 Adrenergic alpha-Agonists Phase 2, Phase 3
33 Mineralocorticoid Receptor Antagonists Phase 2, Phase 3
34 Mineralocorticoids Phase 2, Phase 3
35
Nitric Oxide Approved Phase 2 10102-43-9 145068
36
Phentermine Approved, Illicit Phase 2 122-09-8 4771
37
Mannitol Approved, Investigational Phase 2 69-65-8 453 6251
38 SRX246 Phase 1, Phase 2
39 Vasodilator Agents Phase 2
40 Endothelium-Dependent Relaxing Factors Phase 2
41 Anti-Asthmatic Agents Phase 2
42 omega-N-Methylarginine Phase 2
43 Protective Agents Phase 2
44 Respiratory System Agents Phase 2
45 Bronchodilator Agents Phase 2
46 Antioxidants Phase 2
47 Calcium, Dietary Phase 2,Phase 1
48 Atorvastatin Calcium Phase 2 134523-03-8
49 Lithium carbonate Phase 2 554-13-2
50 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2

Interventional clinical trials:

(show top 50) (show all 135)
id Name Status NCT ID Phase
1 Tolvaptan for Hyponatremia in Cirrhotic Patients With Ascites Unknown status NCT01716611 Phase 4
2 Effect of Samsca on Control of Hyponatremia and Extracellular Fluid in Cirrhotic Patients With Ascites Unknown status NCT01552590 Phase 4
3 Effects of Tolvaptan in Healthy Adults Completed NCT01973140 Phase 4
4 Effect of Tolvaptan on Mid- to Long-term Prognosis of Heart Failure Patients Completed NCT01439009 Phase 4
5 Pilot Study of Using Copeptin to Predict Response to Tolvaptan Completed NCT01346072 Phase 4
6 Tolvaptan for Ascites in Cirrhotic Patients Completed NCT01292304 Phase 4
7 Tolvaptan in Hyponatremic Cancer Patients Completed NCT01199198 Phase 4
8 A Study of Multiple Dosing Regimens of IV Conivaptan in Subjects With Euvolemic or Hypervolemic Hyponatremia Completed NCT00435591 Phase 4
9 Tolvaptan/Ultrafiltration in the Treatment of Acute Heart Failure Completed NCT01863511 Phase 4
10 The Safety and Efficacy of Tolvaptan for Patients With Tricuspid Regurgitation and Right Heart Failure After Left Heart Valves Replacement Completed NCT02644616 Phase 4
11 Effects on Exercise Hemodynamics of Vasopressin Blockade by Conivaptan Infusion in Heart Failure Patients Completed NCT01752543 Phase 4
12 Regional Tolvaptan Registry Recruiting NCT02666651 Phase 4
13 Outcome and Treatment Quality Study of Tolvaptan to Treat Hyponatremia in Patients With Heart Failure Recruiting NCT02352285 Phase 4
14 Tolvaptan for Advanced or Refractory Heart Failure Recruiting NCT02959411 Phase 4
15 Tolvaptan For Worsening Outpatient Heart Failure: Role of Copeptin In Identifying Responders Recruiting NCT02476409 Phase 4
16 Aquaresis Utility for Hyponatremic Acute Heart Failure Study Recruiting NCT02183792 Phase 4
17 Comparison of Oral or Intravenous Thiazides vs Tolvaptan in Diuretic Resistant Decompensated Heart Failure Enrolling by invitation NCT02606253 Phase 4
18 Tolvaptan to Reduce Length of Stay in Hospitalized Patients With Cirrhosis and Hyponatremia Terminated NCT01890694 Phase 4
19 Use of Conivaptan (Vaprisol) for Hyponatremic Neuro-ICU Patients Terminated NCT00727090 Phase 4
20 The Use of Tolvaptan to Prevent Renal Dysfunction in High Risk Patients With Heart Failure-Pilot Study Withdrawn NCT01663662 Phase 4
21 Diuretic and Renal Effects of Vaprisol When Administered Along With Furosemide and Nesiritide Continuous Infusion Withdrawn NCT00806910 Phase 4
22 Acute Heart Failure Patients With High Copeptin Treated With Tolvaptan Targets Increased AVP Activation for Treatment (ACTIVATE) Unknown status NCT01733134 Phase 3
23 Efficacy and Safety Study of the Tolvaptan Tablets in Patients With Non-hypovolemic Non-acute Hyponatremia Unknown status NCT01507727 Phase 2, Phase 3
24 DILIPO (DILutIonal HyPOnatremia) Completed NCT00274326 Phase 3
25 International, Multicenter, Study of One-year, Open-label, Titrated Oral Tolvaptan Tablet Administration in Patients With Chronic Hyponatremia Completed NCT02449044 Phase 3
26 Efficacy and Safety of Tolvaptan in Cirrhotic Patients With Hyponatremia Completed NCT01850940 Phase 3
27 Efficacy and Safety Study of Tolvaptan to Treat Patients With Cardiac Edema Completed NCT01651156 Phase 3
28 Efficacy and Safety of Tolvaptan in the Treatment of Cardiac-Induced Edema in Patients With Heart Failure Completed NCT01618448 Phase 3
29 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
30 Effect of Tolvaptan on Cognitive Function in Cirrhosis Completed NCT01556646 Phase 3
31 Phase III Study of Tolvaptan Tablet to Treat Cirrhosis Ascites Completed NCT01349348 Phase 3
32 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
33 Open-Label Tolvaptan Study in Subjects With ADPKD Completed NCT01214421 Phase 3
34 A Study to Investigate Pharmacodynamics and Pharmacokinetics of OPC-41061 in Patients With Hepatic Edema Completed NCT01114828 Phase 3
35 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
36 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
37 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
38 Effects of Titrated Oral Tolvaptan 15-60 mg Once Daily (QD) on Cognitive and Neurological Function in Elderly Hyponatremic Patients Completed NCT00550459 Phase 3
39 A Study of OPC-41061 in Subjects With Cardiac-induced Edema (Congestive Heart Failure) Completed NCT00544869 Phase 3
40 A Clinical Pharmacological Study of OPC-41061 in the Treatment of Cardiac Edema (Congestive Heart Failure) Completed NCT00525265 Phase 3
41 Study of Efficacy & Safety of Oral YM087 in Subjects With Euvolemic or Hypervolemic Hyponatremia Completed NCT00492037 Phase 3
42 Study of Efficacy & Safety for 3 Infusion Regimens of IV Conivaptan in Subjects With Euvolemic or Hypervolemic Hyponatremia Completed NCT00478192 Phase 3
43 A Double-blind, Placebo-controlled Study of OPC-41061 in the Treatment of Cardiac Edema (Congestive Heart Failure) Completed NCT00462670 Phase 3
44 Tolvaptan Phase 3 Efficacy and Safety Study in ADPKD Completed NCT00428948 Phase 3
45 Study of IV YM087 to Assess Efficacy and Safety in Patients With Euvolemic or Hypervolemic Hyponatremia Completed NCT00380575 Phase 3
46 An Open-Label Study of YM087 (Conivaptan) in Patients With Euvolemic or Hypervolemic Hyponatremia Completed NCT00379847 Phase 3
47 Cirrhotic Ascites Treatment With Satavaptan in Patients With Ascites Due to Cirrhosis of the Liver (CATS) Completed NCT00358878 Phase 3
48 "SALT-2 Trial" Study of Ascending Levels of Tolvaptan in Hyponatremia Completed NCT00201994 Phase 3
49 “SALT Trial” Study of Ascending Levels of Tolvaptan in Hyponatremia Completed NCT00072683 Phase 3
50 EVEREST: Efficacy of Vasopressin Antagonism in hEart failuRE: Outcome Study With Tolvaptan Completed NCT00071331 Phase 3

Search NIH Clinical Center for Diabetes Insipidus, Nephrogenic

Cochrane evidence based reviews: diabetes insipidus, nephrogenic

Genetic Tests for Diabetes Insipidus, Nephrogenic

Genetic tests related to Diabetes Insipidus, Nephrogenic:

id Genetic test Affiliating Genes
1 Nephrogenic Diabetes Insipidus, Autosomal 29 24 AQP2
2 Nephrogenic Diabetes Insipidus, X-Linked 29 24 AVPR2
3 Nephrogenic Diabetes Insipidus 29 24 AVPR2

Anatomical Context for Diabetes Insipidus, Nephrogenic

MalaCards organs/tissues related to Diabetes Insipidus, Nephrogenic:

39
Kidney

Publications for Diabetes Insipidus, Nephrogenic

Articles related to Diabetes Insipidus, Nephrogenic:

id Title Authors Year
1
Diabetes insipidus, nephrogenic type, complicating pregnancy: a case report. ( 5529923 )
1970

Variations for Diabetes Insipidus, Nephrogenic

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

66 (show top 50) (show all 110)
id 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
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 rs28929477
22 AQP2 p.Ala70Asp VAR_062585
23 AQP2 p.Gly100Arg VAR_062586
24 AQP2 p.Gly180Ser VAR_062587
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
29 AVPR2 p.Leu44Pro VAR_003517
30 AVPR2 p.His80Arg VAR_003520
31 AVPR2 p.Val88Met VAR_003521
32 AVPR2 p.Arg106Cys VAR_003522
33 AVPR2 p.Cys112Arg VAR_003523
34 AVPR2 p.Arg113Trp VAR_003524 rs28935496
35 AVPR2 p.Ser126Phe VAR_003525
36 AVPR2 p.Tyr128Ser VAR_003526
37 AVPR2 p.Ala132Asp VAR_003527 rs104894747
38 AVPR2 p.Arg137His VAR_003528 rs104894756
39 AVPR2 p.Arg143Pro VAR_003529
40 AVPR2 p.Trp164Ser VAR_003531
41 AVPR2 p.Ser167Leu VAR_003532
42 AVPR2 p.Ser167Thr VAR_003533
43 AVPR2 p.Arg181Cys VAR_003534 rs104894757
44 AVPR2 p.Gly185Cys VAR_003535 rs104894748
45 AVPR2 p.Arg202Cys VAR_003536 rs782806507
46 AVPR2 p.Arg203Cys VAR_003537 rs104894750
47 AVPR2 p.Tyr205Cys VAR_003538 rs104894749
48 AVPR2 p.Tyr280Cys VAR_003541 rs104894752
49 AVPR2 p.Ala285Pro VAR_003542 rs193922122
50 AVPR2 p.Pro286Leu VAR_003543

ClinVar genetic disease variations for Diabetes Insipidus, Nephrogenic:

6 (show all 42)
id 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.553G> T (p.Gly185Cys) single nucleotide variant Pathogenic rs104894748 GRCh37 Chromosome X, 153171513: 153171513
4 AVPR2 NM_000054.4(AVPR2): c.614A> G (p.Tyr205Cys) single nucleotide variant Pathogenic rs104894749 GRCh37 Chromosome X, 153171574: 153171574
5 AVPR2 NM_000054.4(AVPR2): c.607C> T (p.Arg203Cys) single nucleotide variant Pathogenic rs104894750 GRCh37 Chromosome X, 153171567: 153171567
6 AVPR2 NM_000054.4(AVPR2): c.337C> T (p.Arg113Trp) single nucleotide variant Pathogenic rs28935496 GRCh37 Chromosome X, 153171297: 153171297
7 AVPR2 AVPR2, 1-BP INS insertion Pathogenic
8 AVPR2 NM_000054.4(AVPR2): c.213G> A (p.Trp71Ter) single nucleotide variant Pathogenic rs104894751 GRCh37 Chromosome X, 153171173: 153171173
9 AVPR2 NM_000054.4(AVPR2): c.839A> G (p.Tyr280Cys) single nucleotide variant Pathogenic rs104894752 GRCh37 Chromosome X, 153171799: 153171799
10 AVPR2 NM_000054.4(AVPR2): c.1009C> T (p.Arg337Ter) single nucleotide variant Pathogenic rs104894753 GRCh37 Chromosome X, 153172075: 153172075
11 AVPR2 NM_000054.4(AVPR2): c.253G> A (p.Asp85Asn) single nucleotide variant Pathogenic rs104894754 GRCh37 Chromosome X, 153171213: 153171213
12 AVPR2 NM_000054.4(AVPR2): c.602G> A (p.Gly201Asp) single nucleotide variant Pathogenic rs104894755 GRCh37 Chromosome X, 153171562: 153171562
13 AVPR2 AVPR2, 1-BP INS, 804G insertion Pathogenic
14 AVPR2 AVPR2, 1-BP DEL, 102G deletion Pathogenic
15 AVPR2 NM_000054.4(AVPR2): c.410G> A (p.Arg137His) single nucleotide variant Pathogenic rs104894756 GRCh37 Chromosome X, 153171370: 153171370
16 AVPR2 NM_000054.4(AVPR2): c.541C> T (p.Arg181Cys) single nucleotide variant Pathogenic rs104894757 GRCh37 Chromosome X, 153171501: 153171501
17 AVPR2 NM_000054.4(AVPR2): c.313T> G (p.Phe105Val) single nucleotide variant Pathogenic rs104894758 GRCh37 Chromosome X, 153171273: 153171273
18 AVPR2 NM_000054.4(AVPR2): c.137T> A (p.Ile46Lys) single nucleotide variant Pathogenic rs104894759 GRCh37 Chromosome X, 153171097: 153171097
19 AVPR2 NM_000054.4(AVPR2): c.310C> T (p.Arg104Cys) single nucleotide variant Pathogenic rs104894760 GRCh37 Chromosome X, 153171270: 153171270
20 AQP2 NM_000486.5(AQP2): c.559C> T (p.Arg187Cys) single nucleotide variant Pathogenic rs104894328 GRCh37 Chromosome 12, 50348446: 50348446
21 AQP2 NM_000486.5(AQP2): c.439G> A (p.Ala147Thr) single nucleotide variant Pathogenic rs104894334 GRCh37 Chromosome 12, 50348016: 50348016
22 AVPR2 NM_000054.4(AVPR2): c.424delT (p.Cys142Alafs) deletion Likely pathogenic rs193922114 GRCh37 Chromosome X, 153171384: 153171384
23 AQP2 NM_000486.5(AQP2): c.223T> G (p.Cys75Gly) single nucleotide variant Likely pathogenic rs193922494 GRCh37 Chromosome 12, 50344836: 50344836
24 AQP2 NM_000486.5(AQP2): c.560G> A (p.Arg187His) single nucleotide variant Likely pathogenic rs193922495 GRCh37 Chromosome 12, 50348447: 50348447
25 AQP2 NM_000486.5(AQP2): c.785delC (p.Pro262Argfs) deletion Likely pathogenic rs193922496 GRCh37 Chromosome 12, 50349360: 50349360
26 AVPR2 NM_000054.4(AVPR2): c.409C> G (p.Arg137Gly) single nucleotide variant Likely pathogenic rs104894761 GRCh38 Chromosome X, 153905915: 153905915
27 AVPR2 NM_000054.4(AVPR2): c.176T> C (p.Leu59Pro) single nucleotide variant Likely pathogenic rs193922112 GRCh37 Chromosome X, 153171136: 153171136
28 AVPR2 NM_000054.4(AVPR2): c.290T> C (p.Leu97Pro) single nucleotide variant Likely pathogenic rs193922113 GRCh37 Chromosome X, 153171250: 153171250
29 AVPR2 NM_000054.4(AVPR2): c.472delC (p.Arg158Glyfs) deletion Likely pathogenic rs193922115 GRCh37 Chromosome X, 153171432: 153171432
30 AVPR2 NM_000054.4(AVPR2): c.554delG (p.Gly185Valfs) deletion Likely pathogenic rs193922116 GRCh37 Chromosome X, 153171514: 153171514
31 AVPR2 NM_000054.4(AVPR2): c.673C> T (p.Gln225Ter) single nucleotide variant Likely pathogenic rs193922117 GRCh37 Chromosome X, 153171633: 153171633
32 AVPR2 NM_000054.4(AVPR2): c.752_758delGCCGGAC (p.Arg251Glnfs) deletion Likely pathogenic rs193922118 GRCh37 Chromosome X, 153171712: 153171718
33 AVPR2 NM_000054.4(AVPR2): c.770delG (p.Gly257Valfs) deletion Likely pathogenic rs193922119 GRCh37 Chromosome X, 153171730: 153171730
34 AVPR2 NM_000054.4(AVPR2): c.819_821delGCT (p.Leu274del) deletion Likely pathogenic rs193922120 GRCh37 Chromosome X, 153171779: 153171781
35 AVPR2 NM_000054.4(AVPR2): c.838dupT (p.Tyr280Leufs) duplication Pathogenic rs193922121 GRCh37 Chromosome X, 153171798: 153171798
36 AVPR2 NM_000054.4(AVPR2): c.853G> C (p.Ala285Pro) single nucleotide variant Likely pathogenic rs193922122 GRCh37 Chromosome X, 153171813: 153171813
37 AVPR2 NM_000054.4(AVPR2): c.963C> A (p.Asn321Lys) single nucleotide variant Likely pathogenic rs193922123 GRCh37 Chromosome X, 153172029: 153172029
38 AVPR2 NM_000054.4(AVPR2): c.388A> T (p.Ile130Phe) single nucleotide variant Pathogenic rs796052096 GRCh37 Chromosome X, 153171348: 153171348
39 AVPR2 NM_000054.4(AVPR2): c.966delC (p.Trp323Glyfs) deletion Pathogenic rs886040961 GRCh37 Chromosome X, 153172032: 153172032
40 AQP2 NM_000486.5(AQP2): c.763C> T (p.Gln255Ter) single nucleotide variant Pathogenic rs370879515 GRCh37 Chromosome 12, 50349338: 50349338
41 AVPR2 NM_000054.4(AVPR2): c.335G> T (p.Cys112Phe) single nucleotide variant Likely pathogenic rs1057518723 GRCh37 Chromosome X, 153171295: 153171295
42 AVPR2 NM_000054.4(AVPR2): c.878G> A (p.Trp293Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 153171838: 153171838

Expression for Diabetes Insipidus, Nephrogenic

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

Pathways for Diabetes Insipidus, Nephrogenic

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 AQP1 AQP2 AQP3 AQP4 AQP7 ATP6V0A4
2
Show member pathways
11.64 AQP1 AQP2 AQP3 AQP4 AQP7 AVP
3 11.2 AQP2 AQP3 AQP4 AVP AVPR2
4 10.72 CLCNKA SLC12A1

GO Terms for Diabetes Insipidus, Nephrogenic

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

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.73 AQP1 AQP2 AQP3 AQP4 AQP7 ATP6V0A4
2 basolateral plasma membrane GO:0016323 9.62 AQP1 AQP2 AQP3 AQP4
3 apical plasma membrane GO:0016324 9.55 AQP1 AQP2 ATP6V0A4 MIP SLC12A1
4 integral component of plasma membrane GO:0005887 9.23 AQP1 AQP2 AQP4 AQP7 AVPR2 CLCNKA
5 membrane GO:0016020 10.15 AQP1 AQP2 AQP3 AQP4 AQP7 ATP6V0A4
6 integral component of membrane GO:0016021 10.03 AQP1 AQP2 AQP3 AQP4 AQP7 ATP6V0A4

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.8 AQP2 AQP4 ATP6V0A4 CLCNKA MIP SLC12A1
2 excretion GO:0007588 9.63 AQP2 AQP3 AQP7 ATP6V0A4 AVPR2 CLCNKA
3 glycerol transport GO:0015793 9.56 AQP1 AQP2 AQP3 AQP7
4 odontogenesis GO:0042476 9.55 AQP1 AQP3
5 positive regulation of vasoconstriction GO:0045907 9.54 AVP AVPR2
6 multicellular organismal water homeostasis GO:0050891 9.54 AQP1 AQP4 AVP
7 cellular response to copper ion GO:0071280 9.52 AQP1 AQP2
8 hyperosmotic salinity response GO:0042538 9.51 AQP1 AVP
9 positive regulation of systemic arterial blood pressure GO:0003084 9.49 AVP AVPR2
10 renal water absorption GO:0070295 9.48 AQP1 AQP3
11 cellular response to mercury ion GO:0071288 9.46 AQP1 AQP2
12 renal water transport GO:0003097 9.43 AQP1 AQP2
13 renal water homeostasis GO:0003091 9.43 AQP1 AQP2 AQP3 AQP4 AVP AVPR2
14 water transport GO:0006833 9.17 AQP1 AQP2 AQP3 AQP4 AQP7 AVP
15 transport GO:0006810 10.06 AQP1 AQP2 AQP3 AQP4 AQP7 ATP6V0A4

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

id Name GO ID Score Top Affiliating Genes
1 transporter activity GO:0005215 9.55 AQP1 AQP2 AQP3 AQP4 MIP
2 glycerol channel activity GO:0015254 9.32 AQP3 AQP7
3 glycerol transmembrane transporter activity GO:0015168 9.26 AQP1 AQP2
4 water transmembrane transporter activity GO:0005372 9.13 AQP1 AQP2 AQP4
5 water channel activity GO:0015250 9.1 AQP1 AQP2 AQP3 AQP4 AQP7 MIP

Sources for Diabetes Insipidus, Nephrogenic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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