MCID: DBT088
MIFTS: 64

Diabetes Insipidus, Nephrogenic malady

Genetic diseases, Rare diseases, Nephrological diseases categories

Summaries for Diabetes Insipidus, Nephrogenic

About this section


NIH Rare Diseases:43 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: Diabetes Insipidus, Nephrogenic, also known as nephrogenic diabetes insipidus, is related to diabetes insipidus and nephrocalcinosis, and has symptoms including autosomal dominant inheritance, autosomal recessive inheritance and megacystis. An important gene associated with Diabetes Insipidus, Nephrogenic is AVPR2 (arginine vasopressin receptor 2), and among its related pathways are Vasopressin-regulated water reabsorption and Gastrin-CREB signalling pathway via PKC and MAPK. 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, and related mouse phenotypes are reproductive system and integument.

Disease Ontology:10 An impaired renal function disease characterized by a complete or partial resistance of the kidneys to vasopressin (adh).

Genetics Home Reference:23 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:47 Nephrogenic diabetes insipidus is caused by the inability of the renal collecting ducts to absorb water in response to... (125800) more...

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

Description from OMIM:47 304800

GeneReviews summary for ndi

Aliases & Classifications for Diabetes Insipidus, Nephrogenic

About this section
Sources:
47OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 45Novoseek, 49Orphanet, 24GTR, 57SNOMED-CT, 62UMLS, 29ICD9CM, 40NCIt, 35MeSH, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet, 27ICD10
See all sources

Diabetes Insipidus, Nephrogenic, Aliases & Descriptions:

Name: Diabetes Insipidus, Nephrogenic 47 11 23
Nephrogenic Diabetes Insipidus 10 21 43 23 12 49
Diabetes Insipidus Nephrogenic X-Linked 43 22 24
Diabetes Insipidus Nephrogenic 43 22 45
Nephrogenic Diabetes Insipidus, Autosomal 22 24
Vasopressin-Resistant Diabetes Insipidus 43 23
 
Congenital Nephrogenic Diabetes Insipidus 23
Diabetes Insipidus Nephrogenic Type 1 43
Adh Resistant Diabetes Insipidus 43
Adh-Resistant Diabetes Insipidus 23
Diabetes Insipidus Renalis 23
Ndi 23


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases
Orphanet: 49 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

49
nephrogenic diabetes insipidus:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology10 DOID:12387
ICD9CM29 588.1
NCIt40 C84919
MeSH35 D018500
Orphanet49 223
MESH via Orphanet36 D018500
ICD10 via Orphanet28 N25.1
UMLS via Orphanet63 C0162283
ICD1027 N25.1

Related Diseases for Diabetes Insipidus, Nephrogenic

About this section

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

(show top 50)    (show all 94)
idRelated DiseaseScoreTop Affiliating Genes
1diabetes insipidus31.5OXT, AQP2, AVP, AVPR2
2nephrocalcinosis30.9CASR, SLC12A1
3hydrocephalus30.7L1CAM, AQP1
4nephrogenic syndrome of inappropriate antidiuresis30.5AVPR2
5polyhydramnios30.4SLC12A1, OXT, AQP1
6hypothyroidism30.4CASR, OXT, AVP
7renal tubular acidosis10.7
8hydronephrosis10.7
9fanconi syndrome10.7
10rickets10.6
11hyperparathyroidism10.6
12nephritis10.5
13ureteral obstruction10.4
14acquired immunodeficiency syndrome10.4
15hypervitaminosis d10.4
16bladder neck obstruction10.4
17interstitial nephritis10.4
18diabetes insipidus nephrogenic mental retardation and intracerebral calcification10.4
19rheumatoid arthritis10.3
20prostate cancer10.3
21bardet-biedl syndrome 110.3
22arthrogryposis, renal dysfunction, and cholestasis 210.3
23arthrogryposis, renal dysfunction, and cholestasis 110.3
24pseudopseudohypoparathyroidism10.3
25glucose/galactose malabsorption10.3
26fabry disease10.3
27lung cancer10.3
28renal cell carcinoma10.3
29lipoma10.3
30hemochromatosis10.3
31wilms tumor10.3
32multiple myeloma10.3
33fragile x syndrome10.3
34arthritis10.3
35hepatitis10.3
36severe combined immunodeficiency10.3
37thalassemia10.3
38urethritis10.3
39leptospirosis10.3
40cystinosis10.3
41neuronitis10.3
42central pontine myelinolysis10.3
43primary hyperparathyroidism10.3
44cerebritis10.3
45hypoparathyroidism10.3
46albright's hereditary osteodystrophy10.3
47neuroleptic malignant syndrome10.3
48amyloidosis10.3
49hyperthyroidism10.3
50leiomyosarcoma10.3

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



Diseases related to diabetes insipidus, nephrogenic

Symptoms for Diabetes Insipidus, Nephrogenic

About this section

Symptoms by clinical synopsis from OMIM:

125800

Clinical features from OMIM:

125800,304800

HPO human phenotypes related to Diabetes Insipidus, Nephrogenic:

(show all 19)
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 x-linked recessive inheritance HP:0001419

Drugs & Therapeutics for Diabetes Insipidus, Nephrogenic

About this section

Drug clinical trials:

Search ClinicalTrials for Diabetes Insipidus, Nephrogenic

Search NIH Clinical Center for Diabetes Insipidus, Nephrogenic

Genetic Tests for Diabetes Insipidus, Nephrogenic

About this section

Genetic tests related to Diabetes Insipidus, Nephrogenic:

id Genetic test Affiliating Genes
1 Nephrogenic Diabetes Insipidus22 AVPR2
2 Nephrogenic Diabetes Insipidus, X-Linked22 24 AVPR2
3 Nephrogenic Diabetes Insipidus, Autosomal22 24 AQP2

Anatomical Context for Diabetes Insipidus, Nephrogenic

About this section

MalaCards organs/tissues related to Diabetes Insipidus, Nephrogenic:

33
Kidney

Animal Models for Diabetes Insipidus, Nephrogenic or affiliated genes

About this section

MGI Mouse Phenotypes related to Diabetes Insipidus, Nephrogenic:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.5SLC12A1, OXT, AQP1, AQP2, L1CAM
2MP:00107718.2AVPR2, L1CAM, AQP2, OXT, CASR, SLC12A1
3MP:00053678.0AVPR2, AVP, AQP2, AQP1, OXT, CASR
4MP:00053787.5AVPR2, L1CAM, AQP2, AQP1, OXT, CASR
5MP:00107687.4AVPR2, AVP, L1CAM, AQP2, AQP1, OXT
6MP:00053767.1AVPR2, AVP, LNPEP, AQP2, AQP1, OXT
7MP:00053866.8SLC12A1, AVPR2, AVP, LNPEP, L1CAM, AQP2

Publications for Diabetes Insipidus, Nephrogenic

About this section

Variations for Diabetes Insipidus, Nephrogenic

About this section

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

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 Diabetes Insipidus, Nephrogenic:

7 (show all 19)
id Gene Variation 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 pathogenic, Pathogenicrs104894760GRCh37Chr X, 153171270: 153171270

Expression for genes affiliated with Diabetes Insipidus, Nephrogenic

About this section

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

Pathways for genes affiliated with Diabetes Insipidus, Nephrogenic

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6AQP2, AVP, AVPR2
2
Show member pathways
9.2CASR, OXT, AVP
3
Show member pathways
9.0MIP, AQP1, AQP2, AVP, AVPR2
4
Show member pathways
8.5AVPR2, AVP, AQP2, AQP1, MIP, SLC12A1
5
Show member pathways
8.4AVPR2, AVP, OXER1, OXT, CASR
6
Show member pathways
7.8AVPR2, AVP, OXER1, OXT, CASR, ARHGAP4

Compounds for genes affiliated with Diabetes Insipidus, Nephrogenic

About this section

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

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1d[leu4,lys8]-vp6110.3AVPR2, AVP
2(d(ch2)51,tyr(me)2,arg8)-vasopressin6110.3AVPR2, AVP
3[arg8]-vasopressin6110.3AVPR2, AVP
4sr 4905961 3011.3AVPR2, AVP
5hg2+4510.2MIP, AQP1
6pcmbs4510.1MIP, AQP1
7vas-a4510.1AQP1, AVPR2
8atosiban45 3011.1AVPR2, OXT
9abscisic acid4510.0MIP, AVP
10hgcl2459.9AQP2, AQP1, MIP
11hg2+309.9MIP, AQP1, AQP2
12mercury459.9AQP2, AQP1, MIP
13bacteriorhodopsin459.9OXER1, AQP1
14ammonium459.8SLC12A1, MIP, AQP1
15potassium chloride45 1310.8SLC12A1, OXT
16thiazide459.8CASR, SLC12A1
17vasopressin30 26 1311.7LNPEP, AVPR2
18glycerol45 26 1311.7MIP, AQP1, AQP2
19mannitol45 1310.6MIP, OXT, AQP1
20gentamicin45 1310.6CASR, OXT
21urea45 26 1311.5SLC12A1, MIP, AQP1, AQP2
22amastatin459.4OXT, LNPEP
23hydrochlorothiazide45 30 51 26 1313.4CASR, AQP2
24cyclic amp45 2610.4AVPR2, AQP2, MIP, CASR
25hydrogen45 2610.4AQP2, AQP1, MIP, CASR
26asparagine459.4AVPR2, LNPEP, AQP1
27oxytocin61 30 26 1312.3AVPR2, LNPEP, OXT
28cystine459.1OXT, LNPEP
29dexamethasone45 51 30 1312.1AVP, AQP2, AQP1, MIP
30nacl459.1AQP2, AQP1, MIP, CASR, SLC12A1
31steroid459.0AVP, AQP2, AQP1, OXT
32creatinine459.0AVP, AQP2, AQP1, OXT, CASR
33potassium45 26 1310.8AVPR2, AQP2, AQP1, MIP, CASR, SLC12A1
34desmopressin45 61 30 1311.7AVPR2, AVP, LNPEP, AQP2, OXT
35leucine458.7LNPEP, AQP2, OXT, CASR
36glutamate458.6AVPR2, AVP, L1CAM, OXT, MIP, CASR
37chloride458.5AVPR2, AVP, AQP2, AQP1, MIP, CASR
38sodium45 269.5AVPR2, AVP, AQP2, AQP1, MIP, CASR
39acth458.5AVPR2, AVP, LNPEP, OXT, CASR
40alanine458.4AVPR2, AVP, LNPEP, AQP2, AQP1, CASR
41serine458.4AVP, AQP2, AQP1, OXER1, OXT, CASR
42lipid458.4LNPEP, AQP2, AQP1, OXER1, MIP
43pge2458.4LNPEP, AQP2, OXT, CASR, SLC12A1
44glucose458.3AVP, LNPEP, AQP2, AQP1, MIP, CASR
45nitric oxide45 26 1310.3AVP, AQP2, AQP1, OXT, MIP, CASR
46forskolin45 51 1310.1LNPEP, AQP2, AQP1, OXT, CASR, SLC12A1
47cysteine457.9AVPR2, AVP, AQP2, AQP1, OXER1, OXT
48tyrosine457.8AVPR2, AVP, LNPEP, L1CAM, OXER1, MIP
49calcium45 51 26 1310.5AVPR2, AVP, AQP2, AQP1, OXER1, OXT
50arginine457.0ARHGAP4, AVPR2, AVP, LNPEP, AQP2, AQP1

GO Terms for genes affiliated with Diabetes Insipidus, Nephrogenic

About this section

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

idNameGO IDScoreTop Affiliating Genes
1secretory granuleGO:00301419.7OXT, AVP
2terminal boutonGO:00431959.3OXT, L1CAM
3integral component of plasma membraneGO:00058878.2AVPR2, LNPEP, AQP1, MIP, CASR
4plasma membraneGO:00058866.7SLC12A1, AVPR2, LNPEP, L1CAM, AQP2, AQP1

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1renal water transportGO:000309710.2AQP1, AQP2
2cellular response to mercury ionGO:007128810.1AQP2, AQP1
3cellular response to copper ionGO:007128010.1AQP2, AQP1
4positive regulation of systemic arterial blood pressureGO:000308410.1AVP, AVPR2
5glycerol transportGO:001579310.1AQP2, AQP1
6multicellular organismal water homeostasisGO:005089110.0AQP1, AVP
7cell volume homeostasisGO:000688410.0AQP2, AQP1
8maternal aggressive behaviorGO:00021259.9OXT, AVP
9negative regulation of urine volumeGO:00358119.9AVPR2, OXT
10hyperosmotic salinity responseGO:00425389.9AVP, OXT
11negative regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:00431549.8AQP1, AVP
12maternal behaviorGO:00427119.7OXT, AVP
13grooming behaviorGO:00076259.7OXT, AVP
14excretionGO:00075889.6AQP2, AVPR2
15social behaviorGO:00351769.6AVP, OXT
16water transportGO:00068339.3MIP, AQP1, AQP2, AVP, AVPR2
17female pregnancyGO:00075659.0LNPEP, AQP2, OXT
18transmembrane transportGO:00550858.9AVPR2, AVP, AQP2, AQP1, MIP, SLC12A1

Molecular functions related to Diabetes Insipidus, Nephrogenic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1water channel activityGO:00152509.8MIP, AQP1
2glycerol transmembrane transporter activityGO:00151689.7AQP1, AQP2
3neurohypophyseal hormone activityGO:00051859.7OXT, AVP
4water transmembrane transporter activityGO:00053729.5AQP1, AQP2

Products for genes affiliated with Diabetes Insipidus, Nephrogenic

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Diabetes Insipidus, Nephrogenic

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet