MCID: DBT088
MIFTS: 58

Diabetes Insipidus, Nephrogenic

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Diabetes Insipidus, Nephrogenic

MalaCards integrated aliases for Diabetes Insipidus, Nephrogenic:

Name: Diabetes Insipidus, Nephrogenic 54 54 25 13 13 42
Nephrogenic Diabetes Insipidus 12 23 50 24 25 56 29 14 69
Vasopressin-Resistant Diabetes Insipidus 12 50 25
Nephrogenic Diabetes Insipidus, Autosomal 24 29
Congenital Nephrogenic Diabetes Insipidus 25 69
Nephrogenic Diabetes Insipidus, X-Linked 24 29
Diabetes Insipidus Nephrogenic Type 1 50 71
Adh-Resistant Diabetes Insipidus 25 69
Diabetes Insipidus Nephrogenic 50 52
Ndi 24 25
Diabetes Insipidus, Nephrogenic, Autosomal 71
Diabetes Insipidus, Nephrogenic, X-Linked 71
Diabetes Insipidus Nephrogenic X-Linked 50
Diabetes Insipidus Nephrogenic Type 2 71
Adh Resistant Diabetes Insipidus 50
Diabetes Insipidus Renalis 25
Ndi, Autosomal 24
Ndi, X-Linked 24
Andi 71
Xndi 71

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;

OMIM:

54
Inheritance:
autosomal dominant
autosomal recessive
x-linked recessive

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


HPO:

32

Classifications:

Orphanet: 56  
Rare renal diseases


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 short stature, failure to thrive 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 Arginine Vasopressin and Coagulants have been mentioned in the context of this disorder. Affiliated tissues include kidney and bone, and related phenotypes are behavior/neurological and growth/size/body region

UniProtKB/Swiss-Prot : 71 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.

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 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)

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

Wikipedia : 72 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 41)
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 meester-loeys syndrome 10.7 AVP AVPR2
4 diverticulitis of colon 10.7 AVP AVPR2
5 diabetes insipidus 10.6
6 left-right axis malformations 10.6 AQP2 AVP
7 congenital syphilis 10.5 AQP2 AVP
8 hyperimmunoglobulin syndrome 10.5 AQP1 AVP
9 idiopathic juxtafoveal retinal telangiectasia 10.5 AQP1 AQP2
10 viral laryngitis 10.5 AQP2 AVP
11 methylmalonic acidemia due to transcobalamin receptor defect 10.5 ARHGAP4 CASR
12 synovial chondromatosis 10.5 AQP2 AVP AVPR2
13 long qt syndrome 13 10.4 CASR SLC12A1
14 vagina leiomyosarcoma 10.4 AQP1 AQP3
15 cervix uteri carcinoma in situ 10.4 AQP1 AQP2 AVPR2
16 pediatric angiosarcoma 10.2 AQP2 CASR SLC12A1
17 cascade stomach 10.2 AQP1 AQP3
18 idiopathic corneal edema 10.2 AQP3 MIP
19 hypogonadotropic hypogonadism 10.2 ATP6V0A4 CASR
20 night blindness 10.1 AQP1 AQP3 SLC12A1
21 hypersplenism 10.1 AQP1 AQP4
22 calcinosis 10.0 AQP2 ATP6V0A4 AVP
23 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome 10.0 AQP1 AQP4
24 sudden sensorineural hearing loss 10.0 AQP1 AQP4
25 cellular schwannoma 10.0 AQP4 AVPR2
26 lens disease 10.0 AQP1 AQP4
27 bestrophinopathy 10.0 CASR CLCNKA SLC12A1
28 retinitis pigmentosa 46 9.9 AQP2 AVP AVPR2 LNPEP
29 bardet-biedl syndrome 17 9.9 AQP4 MIP
30 bartter syndrome, type 3 9.9 ATP6V0A4 SLC12A1
31 efemp2-related cutis laxa 9.8 AQP1 AQP4 MIP
32 calciphylaxis 9.8 AQP1 AQP4 MIP
33 rhinitis 9.8 ATP6V0A4 CLCNKA SLC12A1
34 cervix squamous papilloma 9.7 AQP1 AQP4
35 carotid artery thrombosis 9.6 AQP2 AQP4 AVP AVPR2
36 newborn respiratory distress syndrome 9.6 AQP1 AQP4
37 astrakhan spotted fever 9.5 ATP6V0A4 CASR
38 hypertensive encephalopathy 9.3 AQP2 ARHGAP4 AVP AVPR2 CLCNKA SLC12A1
39 interstitial keratitis 9.1 AQP1 AQP2 AQP3 AQP4 MIP
40 prediabetes syndrome 8.2 AQP1 AQP2 AQP3 ARHGAP4 ATP6V0A4 AVP
41 palmoplantar keratoderma, bothnian type 5.5 AQP1 AQP2 AQP3 AQP4 ARHGAP4 ATP6V0A4

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 via clinical synopsis from OMIM:

54

Growth- Height:
short stature

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

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
Metabolic Features:
hypertonic dehydration
unexplained fevers

Growth- Other:
failure to thrive

Abdomen- Gastroin testinal:
poor feeding
vomiting
constipation
polydipsia

Genitourinary- Kidneys:
polyuria

Genitourinary- Bladder:
lower urinary tract dilatation may occur over time


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 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
2 failure to thrive 56 32 frequent (33%) Frequent (79-30%) HP:0001508
3 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 polyhydramnios 56 32 very rare (1%) Very rare (<4-1%) HP:0001561
5 global developmental delay 56 32 very rare (1%) Very rare (<4-1%) HP:0001263
6 renal insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0000083
7 constipation 56 32 frequent (33%) Frequent (79-30%) HP:0002019
8 fever 56 32 frequent (33%) Frequent (79-30%) HP:0001945
9 feeding difficulties 56 32 occasional (7.5%) Occasional (29-5%) HP:0011968
10 hydroureter 56 32 occasional (7.5%) Occasional (29-5%) HP:0000072
11 polydipsia 56 32 frequent (33%) Frequent (79-30%) HP:0001959
12 hypernatremic dehydration 56 32 hallmark (90%) Very frequent (99-80%) HP:0004906
13 anorexia 56 32 frequent (33%) Frequent (79-30%) HP:0002039
14 hypernatremia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003228
15 hyposthenuria 56 32 hallmark (90%) Very frequent (99-80%) HP:0003158
16 nausea and vomiting 56 32 frequent (33%) Frequent (79-30%) HP:0002017
17 nephrogenic diabetes insipidus 56 32 obligate (100%) Obligate (100%) HP:0009806
18 hypovolemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0011106
19 enuresis nocturna 56 32 very rare (1%) Very rare (<4-1%) HP:0010677
20 irritability 32 HP:0000737
21 vomiting 32 HP:0002013
22 intellectual disability 32 HP:0001249
23 polyuria 32 HP:0000103
24 feeding difficulties in infancy 32 HP:0008872
25 diabetes insipidus 32 HP:0000873
26 megacystis 32 HP:0000021
27 growth delay 56 Occasional (29-5%)
28 hypertonic dehydration 32 HP:0001986
29 unexplained fevers 32 HP:0001955
30 functional abnormality of the bladder 56 Occasional (29-5%)

MGI Mouse Phenotypes related to Diabetes Insipidus, Nephrogenic:

44
id 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 9.97 AQP1 AQP2 AQP3 AQP4 ATP6V0A4 AVPR2
3 homeostasis/metabolism MP:0005376 9.96 AQP1 AQP2 AQP3 AQP4 ATP6V0A4 AVP
4 mortality/aging MP:0010768 9.85 AQP1 AQP2 AQP3 AQP4 ATP6V0A4 AVP
5 renal/urinary system MP:0005367 9.61 AQP2 AQP3 AQP4 ATP6V0A4 AVP AVPR2
6 vision/eye MP:0005391 9.1 AQP1 AQP3 AQP4 CASR L1CAM MIP

Drugs & Therapeutics for Diabetes Insipidus, Nephrogenic

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

(show all 47)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Arginine Vasopressin Phase 2,Phase 1
2 Coagulants Phase 2,Phase 1
3 Hemostatics Phase 2,Phase 1
4 Natriuretic Agents Phase 2,Phase 1
5 Vasoconstrictor Agents Phase 2,Phase 1
6 Vasopressins Phase 2,Phase 1
7 Anticholesteremic Agents Phase 2
8 Antimetabolites Phase 2
9 Atorvastatin Calcium Phase 2 134523-03-8
10 Calcium, Dietary Phase 2
11 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
12 Hypolipidemic Agents Phase 2
13 Lipid Regulating Agents Phase 2
14 Lithium carbonate Phase 2 554-13-2
15 arginine Nutraceutical Phase 2,Phase 1
16
Metformin Approved Phase 1 657-24-9 14219 4091
17 Hypoglycemic Agents Phase 1
18
Amiloride Approved 2016-88-8, 2609-46-3 16231
19
Hydrochlorothiazide Approved, Vet_approved 58-93-5 3639
20
Indomethacin Approved, Investigational 53-86-1 3715
21
Salmon Calcitonin Approved, Investigational 47931-85-1 16129616
22
Chlorothiazide Approved, Vet_approved 58-94-6 2720
23 Amiloride, hydrochlorothiazide drug combination
24 Analgesics
25 Analgesics, Non-Narcotic
26 Antihypertensive Agents
27 Anti-Inflammatory Agents
28 Anti-Inflammatory Agents, Non-Steroidal
29 Antirheumatic Agents
30 Bone Density Conservation Agents
31 calcitonin
32 Calcitonin Gene-Related Peptide
33 Cyclooxygenase Inhibitors
34 diuretics
35 Diuretics, Potassium Sparing
36 Epithelial Sodium Channel Blockers
37 Peripheral Nervous System Agents
38 Phosphodiesterase 5 Inhibitors
39 Phosphodiesterase Inhibitors
40 Sildenafil Citrate 171599-83-0
41 Sodium Channel Blockers
42 Sodium Chloride Symporter Inhibitors
43 Tocolytic Agents
44 Vasodilator Agents
45 Hormones
46 Citrate Nutraceutical
47
Citric Acid Nutraceutical, Vet_approved 77-92-9 311

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Atorvastatin for the Treatment of Lithium-Induced Nephrogenic Diabetes Insipidus Not yet recruiting NCT02967653 Phase 2 Atorvastatin
2 Metformin and Congenital Nephrogenic Diabetes Insipidus Active, not recruiting NCT02460354 Phase 1 Metformin
3 Pharmacologic Treatment of Congenital Nephrogenic Diabetes Insipidus Completed NCT00478335 sildenafil;calcitonin;hydrochlorothiazide/amiloride;indomethacin;Placebo for sildenafil;placebo for calcitonin
4 Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus Completed NCT00004360 chlorothiazide
5 Copeptin in the Diagnosis and Differential Diagnosis of Diabetes Insipidus. The CoSIP-Study Completed NCT00757276

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, Bone

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:

71 (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 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
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 43)
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 AQP2 NM_000486.5(AQP2): c.223T> G (p.Cys75Gly) single nucleotide variant Likely pathogenic rs193922494 GRCh37 Chromosome 12, 50344836: 50344836
23 AQP2 NM_000486.5(AQP2): c.560G> A (p.Arg187His) single nucleotide variant Likely pathogenic rs193922495 GRCh37 Chromosome 12, 50348447: 50348447
24 AQP2 NM_000486.5(AQP2): c.785delC (p.Pro262Argfs) deletion Likely pathogenic rs193922496 GRCh37 Chromosome 12, 50349360: 50349360
25 AVPR2 NM_000054.4(AVPR2): c.176T> C (p.Leu59Pro) single nucleotide variant Likely pathogenic rs193922112 GRCh37 Chromosome X, 153171136: 153171136
26 AVPR2 NM_000054.4(AVPR2): c.290T> C (p.Leu97Pro) single nucleotide variant Likely pathogenic rs193922113 GRCh37 Chromosome X, 153171250: 153171250
27 AVPR2 NM_000054.4(AVPR2): c.409C> G (p.Arg137Gly) single nucleotide variant Likely pathogenic rs104894761 GRCh37 Chromosome X, 153171369: 153171369
28 AVPR2 NM_000054.4(AVPR2): c.424delT (p.Cys142Alafs) deletion Likely pathogenic rs193922114 GRCh37 Chromosome X, 153171384: 153171384
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 GRCh38 Chromosome X, 153906578: 153906578
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 rs1064797077 GRCh37 Chromosome X, 153171838: 153171838
43 AQP2 NM_000486.5(AQP2): c.563C> T (p.Ser188Phe) single nucleotide variant Likely pathogenic rs1131690792 GRCh38 Chromosome 12, 49954667: 49954667

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
12.98 AQP1 AQP2 AQP3 AQP4 ATP6V0A4 AVP
2
Show member pathways
11.91 AQP1 AQP2 AQP3 AQP4 AVP AVPR2
3 10.72 CLCNKA SLC12A1
4 10.66 AQP2 AQP3 AQP4 AVP AVPR2

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 9.93 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 according to GeneCards Suite gene sharing:

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.73 AQP2 AQP4 ATP6V0A4 CLCNKA MIP SLC12A1
2 cellular response to hypoxia GO:0071456 9.72 AQP1 AQP3 CASR
3 positive regulation of vasoconstriction GO:0045907 9.61 AVP AVPR2 CASR
4 odontogenesis GO:0042476 9.56 AQP1 AQP3
5 excretion GO:0007588 9.55 AQP2 AQP3 ATP6V0A4 AVPR2 CLCNKA
6 cellular response to copper ion GO:0071280 9.54 AQP1 AQP2
7 multicellular organismal water homeostasis GO:0050891 9.54 AQP1 AQP4 AVP
8 positive regulation of systemic arterial blood pressure GO:0003084 9.52 AVP AVPR2
9 hyperosmotic salinity response GO:0042538 9.51 AQP1 AVP
10 glycerol transport GO:0015793 9.5 AQP1 AQP2 AQP3
11 renal water absorption GO:0070295 9.48 AQP1 AQP3
12 cellular response to mercury ion GO:0071288 9.46 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 9.1 AQP1 AQP2 AQP3 AQP4 AVP MIP
16 transport GO:0006810 10.1 AQP1 AQP2 AQP3 AQP4 ATP6V0A4 CLCNKA

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 transmembrane transporter activity GO:0015168 9.26 AQP1 AQP2
3 water transmembrane transporter activity GO:0005372 9.13 AQP1 AQP2 AQP4
4 water channel activity GO:0015250 9.02 AQP1 AQP2 AQP3 AQP4 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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