NDI
MCID: NPH007
MIFTS: 70

Nephrogenic Diabetes Insipidus (NDI) malady

Genetic diseases, Rare diseases, Nephrological diseases categories
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Summaries for Nephrogenic Diabetes Insipidus

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NIH Rare Diseases:42 Nephrogenic diabetes insipidus is a disorder in which a defect in the small tubes (tubules) in the kidneys causes a person to pass 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.nephrogenic diabetes insipidus 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. the hereditary form is caused by genetic mutations, and its signs and symptoms usually become apparent within the first few months of life. last updated: 7/31/2011

MalaCards based summary: Nephrogenic Diabetes Insipidus, also known as diabetes insipidus nephrogenic x-linked, is related to diabetes insipidus and nephrogenic syndrome of inappropriate antidiuresis, and has symptoms including An important gene associated with Nephrogenic Diabetes Insipidus is AVPR2 (arginine vasopressin receptor 2), and among its related pathways are Diuretics Pathway, Pharmacodynamics and Ion channel transport. The compounds d[leu4,lys8]-vp and (d(ch2)51,tyr(me)2,arg8)-vasopressin have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and brain, and related mouse phenotypes are mortality/aging and renal/urinary system.

Genetics Home Reference:21 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.

Wikipedia:65 Nephrogenic diabetes insipidus is a form of diabetes insipidus primarily due to pathology of the kidney.... more...

Descriptions from OMIM:46 304800,125800

GeneReviews summary for ndi

Aliases & Classifications for Nephrogenic Diabetes Insipidus

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 27ICD9CM, 39NCIt, 57SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Nephrogenic Diabetes Insipidus, Aliases & Descriptions:

Name: Nephrogenic Diabetes Insipidus 8 19 42 21 10 48 62
Diabetes Insipidus Nephrogenic X-Linked 42 20 22
Diabetes Insipidus, Nephrogenic 9 21 46
Diabetes Insipidus Nephrogenic 42 20 44
Congenital Nephrogenic Diabetes Insipidus 21 62
Vasopressin-Resistant Diabetes Insipidus 42 21
Nephrogenic Diabetes Insipidus, Type I 62
 
Diabetes Insipidus Nephrogenic Type 1 42
Adh-Resistant Diabetes Insipidus 21
Adh Resistant Diabetes Insipidus 42
Diabetes Insipidus Renalis 21
Central Diabetes Insipidus 62
Ndi 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases
Orphanet: 48 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

48
nephrogenic diabetes insipidus:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:12387
ICD9CM27 588.1
NCIt39 C84919
MeSH34 D018500
MESH via Orphanet35 D018500
ICD10 via Orphanet26 N25.1
UMLS via Orphanet63 C0162283
ICD1025 N25.1

Related Diseases for Nephrogenic Diabetes Insipidus

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

(show top 50)    (show all 84)
idRelated DiseaseScoreTop Affiliating Genes
1diabetes insipidus32.5AVPR2, AVP, AQP2
2nephrogenic syndrome of inappropriate antidiuresis31.1AVPR2
3l1 syndrome30.9L1CAM
4renal tubular acidosis10.7
5hydronephrosis10.7
6fanconi syndrome10.7
7nephrocalcinosis10.6
8rickets10.6
9hyperparathyroidism10.6
10nephrogenic diabetes insipidus, autosomal10.5
11nephrogenic diabetes insipidus - intracranial calcification10.5
12hydrocephalus10.4
13acquired immunodeficiency syndrome10.4
14bladder neck obstruction10.4
15ureteral obstruction10.4
16hypervitaminosis d10.4
17arc syndrome10.4
18diabetes insipidus nephrogenic mental retardation and intracerebral calcification10.4
19nephritis10.4
20arthritis10.3
21hepatitis10.3
22multiple myeloma10.3
23prostate cancer10.3
24renal cell carcinoma10.3
25rheumatoid arthritis10.3
26severe combined immunodeficiency10.3
27thalassemia10.3
28wilms tumor10.3
29leptospirosis10.3
30hemochromatosis10.3
31fragile x syndrome10.3
32fabry disease10.3
33neuroleptic malignant syndrome10.3
34hypokalemic periodic paralysis10.3
35urethritis10.3
36cystinosis10.3
37central pontine myelinolysis10.3
38proteus syndrome10.3
39werdnig-hoffmann disease10.3
40albright's hereditary osteodystrophy10.3
41neuronitis10.3
42polyhydramnios10.3
43pseudopseudohypoparathyroidism10.3
44primary hyperparathyroidism10.3
45cerebritis10.3
46hypoparathyroidism10.3
47amyloidosis10.3
48hyperthyroidism10.3
49hypothyroidism10.3
50interstitial nephritis10.3

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



Diseases related to nephrogenic diabetes insipidus

Symptoms for Nephrogenic Diabetes Insipidus

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Symptoms by clinical synopsis from OMIM:

125800

Clinical features from OMIM:

304800,125800

HPO human phenotypes related to Nephrogenic Diabetes Insipidus:

(show all 34)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 megacystis HP:0000021
4 polyuria HP:0000103
5 irritability HP:0000737
6 intellectual disability HP:0001249
7 seizures HP:0001250
8 failure to thrive HP:0001508
9 unexplained fevers HP:0001955
10 polydipsia HP:0001959
11 hypertonic dehydration HP:0001986
12 vomiting HP:0002013
13 constipation HP:0002019
14 hypernatremia HP:0003228
15 neonatal onset HP:0003623
16 short stature HP:0004322
17 feeding difficulties in infancy HP:0008872
18 nephrogenic diabetes insipidus HP:0009806
19 megacystis HP:0000021
20 polyuria HP:0000103
21 irritability HP:0000737
22 intellectual disability HP:0001249
23 seizures HP:0001250
24 x-linked recessive inheritance HP:0001419
25 failure to thrive HP:0001508
26 unexplained fevers HP:0001955
27 polydipsia HP:0001959
28 hypertonic dehydration HP:0001986
29 vomiting HP:0002013
30 constipation HP:0002019
31 hypernatremia HP:0003228
32 neonatal onset HP:0003623
33 short stature HP:0004322
34 feeding difficulties in infancy HP:0008872

Drugs & Therapeutics for Nephrogenic Diabetes Insipidus

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Drug clinical trials:

Search ClinicalTrials for Nephrogenic Diabetes Insipidus

Search NIH Clinical Center for Nephrogenic Diabetes Insipidus

Genetic Tests for Nephrogenic Diabetes Insipidus

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Genetic tests related to Nephrogenic Diabetes Insipidus:

id Genetic test Affiliating Genes
1 Nephrogenic Diabetes Insipidus20 AVPR2
2 Nephrogenic Diabetes Insipidus, X-Linked20 22 AVPR2

Anatomical Context for Nephrogenic Diabetes Insipidus

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MalaCards organs/tissues related to Nephrogenic Diabetes Insipidus:

32
Kidney, Testes, Brain, Bone marrow, Bone, Lung, Prostate

Animal Models for Nephrogenic Diabetes Insipidus or affiliated genes

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MGI Mouse Phenotypes related to Nephrogenic Diabetes Insipidus:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.3AQP2, L1CAM, BSND, AVP, AVPR2
2MP:00053678.3AQP2, CLCNKA, BSND, AVP, AVPR2
3MP:00053868.2AVPR2, AVP, BSND, L1CAM, AQP2
4MP:00053788.1AVPR2, BSND, GPBAR1, L1CAM, AQP2
5MP:00053767.7AVPR2, AVP, BSND, GPBAR1, CLCNKA, AQP2

Publications for Nephrogenic Diabetes Insipidus

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Articles related to Nephrogenic Diabetes Insipidus:

(show top 50)    (show all 505)
idTitleAuthorsYear
1
Novel activators of aquaporin 2 membrane expression for the treatment of nephrogenic diabetes insipidus: less is more. Focus on "High-throughput chemical screening identifies AG-490 as a stimulator of aquaporin 2 membrane expression and urine concentration". (24944199)
2014
2
Combination of secretin and fluvastatin ameliorates the polyuria associated with X-linked nephrogenic diabetes insipidus in mice. (24522493)
2014
3
A novel deletion mutation of the arginine vasopressin receptor 2 gene in a Japanese infant with nephrogenic diabetes insipidus. (25374441)
2014
4
Nephrogenic diabetes insipidus with intracranial calcification in a child with thalassemia minor. (24053747)
2013
5
Inherited secondary nephrogenic diabetes insipidus: concentrating on humans. (23364801)
2013
6
Novel compound aquaporin 2 mutations in nephrogenic diabetes insipidus. (22249485)
2012
7
Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature. (22386940)
2012
8
ARC syndrome with complex renal problems: nephrocalcinosis, proximal and hyperkalemic distal RTA and nephrogenic diabetes insipidus. (22805396)
2012
9
Metabolic profiling of kidney and urine in rats with lithium-induced nephrogenic diabetes insipidus by (1)H-NMR-based metabonomics. (19923409)
2010
10
Amiloride blocks lithium entry through the sodium channel thereby attenuating the resultant nephrogenic diabetes insipidus. (19367330)
2009
11
Biased agonist pharmacochaperones of the AVP V2 receptor may treat congenital nephrogenic diabetes insipidus. (19729439)
2009
12
Compound heterozygous mutation of aquaporin 2 gene in woman patient with congenital nephrogenic diabetes insipidus. (19293543)
2009
13
Identification of two novel aquaporin-2 mutations in a Thai girl with congenital nephrogenic diabetes insipidus. (18473191)
2008
14
AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance. (18726898)
2008
15
Treating lithium-induced nephrogenic diabetes insipidus with a COX-2 inhibitor improves polyuria via upregulation of AQP2 and NKCC2. (18216147)
2008
16
Acquired nephrogenic diabetes insipidus. (16713497)
2006
17
Pemetrexed-induced acute renal failure, nephrogenic diabetes insipidus, and renal tubular acidosis in a patient with non-small cell lung cancer. (17018900)
2006
18
A novel mechanism in recessive nephrogenic diabetes insipidus: wild- type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L. (15509592)
2004
19
Changes of rat kidney AQP2 and Na,K-ATPase mRNA expression in lithium-induced nephrogenic diabetes insipidus. (15153756)
2004
20
Methotrexate-induced nephrogenic diabetes insipidus: first case report. (11886979)
2002
21
Water intake and 24-hour blood pressure monitoring in a patient with nephrogenic diabetes insipidus caused by a novel mutation of the vasopressin V2R gene. (11868598)
2002
22
Nephrogenic diabetes insipidus associated with mutations of vasopressin V2 receptors and aquaporin-2]. (11857925)
2002
23
Nephrogenic diabetes insipidus associated with hemochromatosis. (12148115)
2002
24
Lithium-induced nephrogenic diabetes insipidus in older people. (11509315)
2001
25
Lithium-induced nephrogenic diabetes insipidus. (11246113)
2001
26
Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congenital nephrogenic diabetes insipidus. (11026555)
2000
27
Nephrogenic diabetes insipidus in a dog with intestinal leiomyosarcoma. (10613214)
1999
28
Nephrogenic diabetes insipidus. (10435672)
1999
29
Nephrogenic diabetes insipidus due to a new mutation of the arginine vasopressin V2 receptor gene in a girl presenting with non-accidental injury. (10586320)
1999
30
Urinary content of aquaporin 1 and 2 in nephrogenic diabetes insipidus. (8793791)
1996
31
Cognitive and psychosocial functioning of patients with congenital nephrogenic diabetes insipidus. (8741926)
1996
32
Nephrogenic diabetes insipidus. A personal perspective. (7849880)
1995
33
Nephrogenic diabetes insipidus secondary to lithium therapy in the postoperative patient: a case report. (7978676)
1994
34
Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal. (8078903)
1994
35
Prevention of intracranial calcifications and brain damage associated with nephrogenic diabetes insipidus. (8018512)
1994
36
X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis. (8104196)
1993
37
Normal hemodynamic and coagulation responses to 1-deamino-8-D-arginine vasopressin in a case of lithium-induced nephrogenic diabetes insipidus. Results of treatment by a prostaglandin synthesis inhibitor (indomethacin). (1490662)
1992
38
Hereditary nephrogenic diabetes insipidus. (2063710)
1991
39
Nonobstructive urinary tract dilatation in nephrogenic diabetes insipidus. (2076930)
1990
40
Hemodynamic and coagulation responses to 1-desamino[8-D-arginine] vasopressin in patients with congenital nephrogenic diabetes insipidus. (2965301)
1988
41
Expression of a metallothionein-vasopressin fusion gene in transgenic mice produces hypervasopressinemia and manifestations of nephrogenic diabetes insipidus. (3269675)
1988
42
Localization of the gene for X-linked nephrogenic diabetes insipidus to Xq28. (2894172)
1988
43
Hydrochlorothiazide-amiloride in the treatment of congenital nephrogenic diabetes insipidus. (3970081)
1985
44
Lack of intramembranous particle clusters in collecting ducts of mice with nephrogenic diabetes insipidus. (4051007)
1985
45
Absence of overlapping resistance to vasopressin and parathyroid hormone in patients with nephrogenic diabetes insipidus and pseudohypoparathyroidism. (7107814)
1982
46
Nephrogenic diabetes insipidus associated with Dyazide (triamterene-hydrochlorothiazide). (6794799)
1981
47
Post-obstructive diuresis in nephrogenic diabetes insipidus associated with bladder neck obstruction. (423345)
1979
48
Vasopressin-resistant nephrogenic diabetes insipidus. A result of amphotericin B therapy. (760689)
1979
49
Nephrogenic diabetes insipidus and Werdnig-Hoffmann disease in a child: an unusual association. (671487)
1978
50
Drug-induced states of nephrogenic diabetes insipidus. (181631)
1976

Variations for Nephrogenic Diabetes Insipidus

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

64 (show all 109)
id Symbol AA change Variation ID SNP ID
1AQP2p.Gly64ArgVAR_004401
2AQP2p.Arg187CysVAR_004402
3AQP2p.Ser216ProVAR_004403
4AQP2p.Leu22ValVAR_015239
5AQP2p.Leu28ProVAR_015240
6AQP2p.Ala47ValVAR_015241
7AQP2p.Asn68SerVAR_015242
8AQP2p.Val71MetVAR_015243
9AQP2p.Thr125MetVAR_015244
10AQP2p.Thr126MetVAR_015245
11AQP2p.Ala147ThrVAR_015246
12AQP2p.Val168MetVAR_015247
13AQP2p.Gly175ArgVAR_015248
14AQP2p.Cys181TrpVAR_015249
15AQP2p.Pro185AlaVAR_015250
16AQP2p.Ala190ThrVAR_015251
17AQP2p.Trp202CysVAR_015253
18AQP2p.Glu258LysVAR_015254
19AQP2p.Pro262LeuVAR_015255
20AQP2p.Gln57ProVAR_015256rs28931580
21AQP2p.Gly100ValVAR_015257rs28929477
22AQP2p.Ala70AspVAR_062585
23AQP2p.Gly100ArgVAR_062586
24AQP2p.Gly180SerVAR_062587
25AQP2p.Arg187HisVAR_062588
26AQP2p.Arg254LeuVAR_062589
27AQP2p.Arg254GlnVAR_062590
28AQP2p.Thr108MetVAR_071370
29AVPR2p.Leu44ProVAR_003517
30AVPR2p.His80ArgVAR_003520
31AVPR2p.Val88MetVAR_003521
32AVPR2p.Arg106CysVAR_003522
33AVPR2p.Cys112ArgVAR_003523
34AVPR2p.Arg113TrpVAR_003524rs28935496
35AVPR2p.Ser126PheVAR_003525
36AVPR2p.Tyr128SerVAR_003526
37AVPR2p.Ala132AspVAR_003527
38AVPR2p.Arg137HisVAR_003528
39AVPR2p.Arg143ProVAR_003529
40AVPR2p.Trp164SerVAR_003531
41AVPR2p.Ser167LeuVAR_003532
42AVPR2p.Ser167ThrVAR_003533
43AVPR2p.Arg181CysVAR_003534
44AVPR2p.Gly185CysVAR_003535
45AVPR2p.Arg202CysVAR_003536
46AVPR2p.Arg203CysVAR_003537
47AVPR2p.Tyr205CysVAR_003538
48AVPR2p.Tyr280CysVAR_003541
49AVPR2p.Pro286LeuVAR_003543
50AVPR2p.Pro286ArgVAR_003544
51AVPR2p.Leu292ProVAR_003545
52AVPR2p.Leu309ProVAR_003546
53AVPR2p.Asn317LysVAR_003547
54AVPR2p.Trp323SerVAR_003548
55AVPR2p.Leu43ProVAR_015297
56AVPR2p.Ile46LysVAR_015298
57AVPR2p.Leu53ArgVAR_015299
58AVPR2p.Asn55AspVAR_015300
59AVPR2p.Asn55HisVAR_015301
60AVPR2p.Leu59ProVAR_015302
61AVPR2p.Leu62ProVAR_015304
62AVPR2p.Leu81PheVAR_015305
63AVPR2p.Leu83ProVAR_015306
64AVPR2p.Leu83GlnVAR_015307
65AVPR2p.Ala84AspVAR_015308
66AVPR2p.Asp85AsnVAR_015309
67AVPR2p.Gln92ArgVAR_015310
68AVPR2p.Leu94GlnVAR_015311
69AVPR2p.Pro95LeuVAR_015312
70AVPR2p.Trp99ArgVAR_015313
71AVPR2p.Arg104CysVAR_015314
72AVPR2p.Phe105ValVAR_015315
73AVPR2p.Gly107GluVAR_015316
74AVPR2p.Cys112TyrVAR_015317
75AVPR2p.Gly122ArgVAR_015318
76AVPR2p.Met123LysVAR_015319
77AVPR2p.Ser127PheVAR_015320
78AVPR2p.Ile130PheVAR_015321
79AVPR2p.Leu135ProVAR_015322
80AVPR2p.Ala163ProVAR_015324
81AVPR2p.Pro173SerVAR_015325
82AVPR2p.Gln174LeuVAR_015326
83AVPR2p.Asp191GlyVAR_015327
84AVPR2p.Gly201AspVAR_015328
85AVPR2p.Thr204AsnVAR_015329
86AVPR2p.Val206AspVAR_015330
87AVPR2p.Thr207AsnVAR_015331
88AVPR2p.Ile209PheVAR_015332
89AVPR2p.Phe214SerVAR_015333
90AVPR2p.Pro217ThrVAR_015335
91AVPR2p.Leu219ProVAR_015336
92AVPR2p.Leu219ArgVAR_015337
93AVPR2p.Met272LysVAR_015339
94AVPR2p.Val277AlaVAR_015340
95AVPR2p.Leu282ProVAR_015341
96AVPR2p.Pro286SerVAR_015342
97AVPR2p.Phe287LeuVAR_015343
98AVPR2p.Leu289ProVAR_015344
99AVPR2p.Ala294ProVAR_015345
100AVPR2p.Leu309ArgVAR_015346
101AVPR2p.Ser315ArgVAR_015347
102AVPR2p.Cys319ArgVAR_015349
103AVPR2p.Asn321AspVAR_015350
104AVPR2p.Asn321LysVAR_015351
105AVPR2p.Asn321TyrVAR_015352
106AVPR2p.Pro322HisVAR_015353
107AVPR2p.Pro322SerVAR_015354
108AVPR2p.Trp323ArgVAR_015355
109AVPR2p.Gly122AspVAR_062591

Clinvar genetic disease variations for Nephrogenic Diabetes Insipidus:

6 (show all 19)
id Gene Name Type Significance SNP ID Assembly Location
1AVPR2AVPR2, 1-BP DEL, 733GdeletionPathogenic
2AVPR2NM_000054.4(AVPR2): c.395C> A (p.Ala132Asp)single nucleotide variantPathogenicrs104894747GRCh37Chr X, 153171355: 153171355
3AVPR2NM_000054.4(AVPR2): c.553G> T (p.Gly185Cys)single nucleotide variantPathogenicrs104894748GRCh37Chr X, 153171513: 153171513
4AVPR2NM_000054.4(AVPR2): c.614A> G (p.Tyr205Cys)single nucleotide variantPathogenicrs104894749GRCh37Chr X, 153171574: 153171574
5AVPR2NM_000054.4(AVPR2): c.607C> T (p.Arg203Cys)single nucleotide variantPathogenicrs104894750GRCh37Chr X, 153171567: 153171567
6AVPR2NM_000054.4(AVPR2): c.337C> T (p.Arg113Trp)single nucleotide variantPathogenicrs28935496GRCh37Chr X, 153171297: 153171297
7AVPR2AVPR2, 1-BP INSinsertionPathogenic
8AVPR2NM_000054.4(AVPR2): c.213G> A (p.Trp71Ter)single nucleotide variantPathogenicrs104894751GRCh37Chr X, 153171173: 153171173
9AVPR2NM_000054.4(AVPR2): c.839A> G (p.Tyr280Cys)single nucleotide variantPathogenicrs104894752GRCh37Chr X, 153171799: 153171799
10AVPR2NM_000054.4(AVPR2): c.1009C> T (p.Arg337Ter)single nucleotide variantPathogenicrs104894753GRCh37Chr X, 153172075: 153172075
11AVPR2NM_000054.4(AVPR2): c.253G> A (p.Asp85Asn)single nucleotide variantPathogenicrs104894754GRCh37Chr X, 153171213: 153171213
12AVPR2NM_000054.4(AVPR2): c.602G> A (p.Gly201Asp)single nucleotide variantPathogenicrs104894755GRCh37Chr X, 153171562: 153171562
13AVPR2AVPR2, 1-BP INS, 804GinsertionPathogenic
14AVPR2AVPR2, 1-BP DEL, 102GdeletionPathogenic
15AVPR2NM_000054.4(AVPR2): c.410G> A (p.Arg137His)single nucleotide variantPathogenicrs104894756GRCh37Chr X, 153171370: 153171370
16AVPR2NM_000054.4(AVPR2): c.541C> T (p.Arg181Cys)single nucleotide variantPathogenicrs104894757GRCh37Chr X, 153171501: 153171501
17AVPR2NM_000054.4(AVPR2): c.313T> G (p.Phe105Val)single nucleotide variantPathogenicrs104894758GRCh37Chr X, 153171273: 153171273
18AVPR2NM_000054.4(AVPR2): c.137T> A (p.Ile46Lys)single nucleotide variantPathogenicrs104894759GRCh37Chr X, 153171097: 153171097
19AVPR2NM_000054.4(AVPR2): c.310C> T (p.Arg104Cys)single nucleotide variantLikely pathogenicrs104894760GRCh37Chr X, 153171270: 153171270

Expression for genes affiliated with Nephrogenic Diabetes Insipidus

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Expression patterns in normal tissues for genes affiliated with Nephrogenic Diabetes Insipidus

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

Pathways for genes affiliated with Nephrogenic Diabetes Insipidus

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Pathways related to Nephrogenic Diabetes Insipidus according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4BSND, CLCNKA
2
Show member pathways
9.4CLCNKA, BSND
39.2AVPR2, AVP, AQP2
4
Show member pathways
9.2GPBAR1, AVP, AVPR2
59.2GPBAR1, AVP, AVPR2
6
Show member pathways
8.4MIP, AQP2, AVP, AVPR2
7
Show member pathways
7.4MIP, AVPR2, AVP, BSND, CLCNKA, AQP2

Compounds for genes affiliated with Nephrogenic Diabetes Insipidus

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Compounds related to Nephrogenic Diabetes Insipidus according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1d[leu4,lys8]-vp6110.0AVPR2, AVP
2(d(ch2)51,tyr(me)2,arg8)-vasopressin6110.0AVPR2, AVP
3[arg8]-vasopressin6110.0AVPR2, AVP
4sr 4905961 2810.9AVPR2, AVP
5furosemide44 61 28 50 24 1114.9BSND, AQP2
6hgcl2449.6MIP, AQP2
7desmopressin44 61 28 1112.6AQP2, AVP, AVPR2
8chlorine44 2410.6CLCNKA, BSND
9hg2+289.6MIP, AQP2
10mercury449.5MIP, AQP2
11adenylate449.5AQP2, GPBAR1, AVPR2
12abscisic acid449.4MIP, AVP
13urea44 24 1111.3MIP, AQP2
14carbon449.1MIP, AVP
15threonine449.0AQP2, GPBAR1, AVP
16alanine448.9AQP2, AVP, AVPR2
17dexamethasone44 50 28 1111.9AVP, AQP2, MIP
18cyclic amp44 249.8AVPR2, GPBAR1, AQP2, MIP
19nitric oxide44 24 1110.8AVP, AQP2, MIP
20arginine448.7AVPR2, AVP, AQP2, MIP
21cysteine448.7AVPR2, AVP, AQP2, MIP
22nacl448.6BSND, CLCNKA, AQP2, MIP
23glutamate448.5AVPR2, AVP, L1CAM, MIP
24glucose448.5MIP, AQP2, GPBAR1, AVP
25potassium44 24 1110.3AVPR2, BSND, CLCNKA, AQP2, MIP
26tyrosine448.1AVPR2, AVP, GPBAR1, L1CAM, MIP
27chloride447.8MIP, AQP2, CLCNKA, BSND, AVP, AVPR2
28sodium44 248.8AVPR2, AVP, BSND, CLCNKA, AQP2, MIP
29calcium44 50 24 1110.3AVPR2, AVP, BSND, GPBAR1, CLCNKA, AQP2

GO Terms for genes affiliated with Nephrogenic Diabetes Insipidus

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Cellular components related to Nephrogenic Diabetes Insipidus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basolateral plasma membraneGO:0163239.7AQP2, BSND
2integral component of plasma membraneGO:0058878.0MIP, CLCNKA, BSND, AVPR2
3plasma membraneGO:0058866.8MIP, AVPR2, BSND, GPBAR1, L1CAM, CLCNKA

Biological processes related to Nephrogenic Diabetes Insipidus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of gene expressionGO:0106289.6AVP, AVPR2
2positive regulation of systemic arterial blood pressureGO:0030849.3AVP, AVPR2
3excretionGO:0075889.0AVPR2, CLCNKA, AQP2
4water transportGO:0068338.5MIP, AQP2, AVP, AVPR2
5transmembrane transportGO:0550857.4AVPR2, AVP, BSND, CLCNKA, AQP2, MIP

Products for genes affiliated with Nephrogenic Diabetes Insipidus

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  • Antibodies
  • Proteins
  • Lysates

Sources for Nephrogenic Diabetes Insipidus

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet