NDI
MCID: NPH007
MIFTS: 61

Nephrogenic Diabetes Insipidus (NDI)

Categories: Endocrine diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Nephrogenic Diabetes Insipidus

MalaCards integrated aliases for Nephrogenic Diabetes Insipidus:

Name: Nephrogenic Diabetes Insipidus 11 19 42 58 75 28 5 14 31 33
Vasopressin-Resistant Diabetes Insipidus 11 19 42
Diabetes Insipidus, Nephrogenic 42 43 38
Congenital Nephrogenic Diabetes Insipidus 42 33
Diabetes Insipidus Nephrogenic 19 53
Adh - [antidiuretic-Hormone] Resistant Diabetes Insipidus 33
Antidiuretic-Hormone-Resistant Diabetes Insipidus 33
Hereditary Nephrogenic Diabetes Insipidus 33
Diabetes Insipidus Nephrogenic X-Linked 19
Familial Nephrogenic Diabetes Insipidus 33
Adiuretin-Resistant Diabetes Insipidus 33
Ndi - [nephrogenic Diabetes Insipidus] 33
Primary Nephrogenic Diabetes Insipidus 33
Diabetes Insipidus Nephrogenic Type 1 19
Adh Resistant Diabetes Insipidus 19
Adh-Resistant Diabetes Insipidus 42
Familial Nephrogenic Diabetes 33
Diabetes Insipidus Renalis 42
Renal Diabetes Insipidus 33
Diabetes Tenuifluus 33
Ndi 42

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive,X-linked recessive 58

Prevelance:

1-9/1000000 (Europe, Specific population) 58

Age Of Onset:

Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

Disease Ontology 11 DOID:12387
ICD9CM 34 588.1
MeSH 43 D018500
NCIt 49 C84919
SNOMED-CT 68 123294004
ICD10 31 N25.1
MESH via Orphanet 44 D018500
ICD10 via Orphanet 32 N25.1
UMLS via Orphanet 72 C0162283
Orphanet 58 ORPHA223
ICD11 33 1417669099
UMLS 71 C0162283

Summaries for Nephrogenic Diabetes Insipidus

MedlinePlus Genetics: 42 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.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.Infants with hereditary nephrogenic diabetes insipidus may eat poorly and fail to gain weight and grow at the expected rate (failure to thrive). They may also be irritable and experience fevers, diarrhea, and vomiting. Recurrent episodes of dehydration can lead to slow growth and delayed development. If the condition is not well-managed, over time it can damage the bladder and kidneys leading to pain, infections, and kidney failure. With appropriate treatment, affected individuals usually have few complications and a normal lifespan.Nephrogenic diabetes insipidus should not be confused with diabetes mellitus, which is much more common. Diabetes mellitus is characterized by high blood sugar levels resulting from a shortage of the hormone insulin or an insensitivity to this hormone. Although nephrogenic diabetes insipidus and diabetes mellitus have some features in common, they are separate disorders with different causes.

MalaCards based summary: Nephrogenic Diabetes Insipidus, also known as vasopressin-resistant diabetes insipidus, is related to diabetes insipidus, nephrogenic, 2, autosomal and x-linked nephrogenic diabetes insipidus. An important gene associated with Nephrogenic Diabetes Insipidus is AVPR2 (Arginine Vasopressin Receptor 2), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Aquaporin-mediated transport. The drugs Lithium carbonate and Amiloride have been mentioned in the context of this disorder. Affiliated tissues include kidney, pituitary and bone marrow, and related phenotypes are nephrogenic diabetes insipidus and hyposthenuria

GARD: 19 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 genetic changes in the AVPR2 gene, and about 10% of cases are caused by genetic changes in the AQP2 gene.

Orphanet: 58 A rare, genetic renal tubular disease that is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae.

Disease Ontology: 11 A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).

Wikipedia: 75 Nephrogenic diabetes insipidus, also known as renal diabetes insipidus, is a form of diabetes insipidus... more...

Related Diseases for Nephrogenic Diabetes Insipidus

Diseases in the Nephrogenic Diabetes Insipidus family:

Diabetes Insipidus, Nephrogenic, 2, Autosomal Hereditary Nephrogenic Diabetes Insipidus

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

(show top 50) (show all 324)
# Related Disease Score Top Affiliating Genes
1 diabetes insipidus, nephrogenic, 2, autosomal 33.5 AQP5-AS1 AQP2
2 x-linked nephrogenic diabetes insipidus 32.9 SLC12A1 AVPR2 AVP ARHGAP4 AQP3 AQP2
3 central diabetes insipidus 32.6 OXT LNPEP AVPR2 AVP AQP2
4 diabetes insipidus 31.8 SLC12A1 OXTR OXT MIP LNPEP CLCNKA
5 diabetes insipidus, neurohypophyseal 31.6 OXT AVPR2 AVP AQP2
6 hypokalemia 31.4 SLC12A1 CASR BSND AVPR2 AVP AQP2
7 urinary tract obstruction 31.4 AVPR2 AQP2 AQP1
8 bartter disease 31.1 SLC12A1 CLCNKA CASR BSND AVPR2 AVP
9 dipsogenic diabetes insipidus 31.0 AVPR2 AVP AQP2
10 nephrogenic syndrome of inappropriate antidiuresis 31.0 SLC12A1 OXTR OXT AVPR2 AVP AQP2
11 polycystic kidney disease 30.9 AVPR2 AVP AQP2 AQP1
12 hydrocephalus 30.9 L1CAM CFAP47 AQP4 AQP1
13 bartter syndrome, type 4a, neonatal, with sensorineural deafness 30.8 SLC12A1 CLCNKA BSND
14 inappropriate adh syndrome 30.8 OXT AVPR2 AVP AQP4 AQP2
15 bartter syndrome, type 1, antenatal 30.8 SLC12A1 CLCNKA BSND AQP2
16 central pontine myelinolysis 30.7 AVPR2 AVP AQP4 AQP2 AQP1
17 polyhydramnios 30.6 SLC12A1 OXT CLCNKA CFAP47 BSND AQP3
18 conn's syndrome 30.4 SLC12A1 CASR BSND AVPR2 AVP AQP2
19 obstructive hydrocephalus 30.2 AQP4 AQP1
20 hypertension, essential 30.2 SLC12A1 OXT LNPEP CASR AVPR2 AVP
21 diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification 11.8
22 diabetes insipidus, nephrogenic, 1, x-linked 11.6
23 hereditary nephrogenic diabetes insipidus 11.5
24 diabetes mellitus 10.9
25 hydronephrosis 10.8
26 renal tubular acidosis 10.7
27 bipolar disorder 10.7
28 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
29 factor viii deficiency 10.6
30 metabolic acidosis 10.6
31 fanconi syndrome 10.6
32 sjogren syndrome 10.5
33 turner syndrome 10.5
34 distal renal tubular acidosis 10.5
35 rickets 10.5
36 hyperparathyroidism 10.5
37 cystinosis 10.5
38 nephrocalcinosis 10.5
39 kidney disease 10.4
40 chronic kidney disease 10.4
41 bartter syndrome, type 5, antenatal, transient 10.4 AVPR2 AQP2
42 tuberculous encephalopathy 10.4 AVP AQP4
43 immune deficiency disease 10.4
44 malaria 10.4
45 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 10.4
46 hypophosphatemia 10.4
47 primary hyperparathyroidism 10.4
48 acute kidney failure 10.4
49 aminoaciduria 10.4
50 oto-palatal-digital syndrome 10.4

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



Diseases related to Nephrogenic Diabetes Insipidus

Symptoms & Phenotypes for Nephrogenic Diabetes Insipidus

Human phenotypes related to Nephrogenic Diabetes Insipidus:

58 30 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrogenic diabetes insipidus 58 30 Obligate (100%) Obligate (100%)
HP:0009806
2 hyposthenuria 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003158
3 hypernatremia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003228
4 hypernatremic dehydration 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004906
5 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
HP:0001508
6 nausea and vomiting 58 30 Frequent (33%) Frequent (79-30%)
HP:0002017
7 constipation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002019
8 polydipsia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001959
9 fever 58 30 Frequent (33%) Frequent (79-30%)
HP:0001945
10 anorexia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002039
11 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
12 short stature 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004322
13 renal insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000083
14 hydroureter 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000072
15 feeding difficulties 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011968
16 hypovolemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011106
17 global developmental delay 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001263
18 polyhydramnios 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001561
19 enuresis nocturna 58 30 Very rare (1%) Very rare (<4-1%)
HP:0010677
20 growth delay 58 Occasional (29-5%)
21 functional abnormality of the bladder 58 Occasional (29-5%)

GenomeRNAi Phenotypes related to Nephrogenic Diabetes Insipidus according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.85 AQP1 AQP2 AQP3 AQP4 ARHGAP1 ARHGAP4
2 no effect GR00402-S-2 9.85 AQP2 AQP3 AQP4 ARHGAP1 ARHGAP4 AVPR2

MGI Mouse Phenotypes related to Nephrogenic Diabetes Insipidus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.21 AQP1 AQP2 AQP3 AQP4 ARHGAP1 AVP
2 growth/size/body region MP:0005378 10.2 AQP1 AQP2 AQP3 AQP4 ARHGAP1 AVPR2
3 renal/urinary system MP:0005367 10.18 AQP1 AQP2 AQP3 AQP4 ARHGAP1 AVP
4 nervous system MP:0003631 10.17 AQP1 AQP4 ARHGAP1 ARHGAP4 AVP BSND
5 behavior/neurological MP:0005386 10.13 AQP1 AQP2 AQP3 AQP4 AVP AVPR2
6 reproductive system MP:0005389 9.93 AQP1 AQP2 AQP4 ARHGAP1 CASR CFAP47
7 mortality/aging MP:0010768 9.8 AQP1 AQP2 AQP3 AQP4 ARHGAP1 AVP
8 integument MP:0010771 9.28 AQP2 ARHGAP1 AVPR2 CASR CLCNKA L1CAM

Drugs & Therapeutics for Nephrogenic Diabetes Insipidus

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

(show top 50) (show all 53)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lithium carbonate Approved Phase 4 554-13-2
2
Amiloride Approved Phase 4 17440-83-4, 2016-88-8, 2609-46-3 16231
3 Sodium Channel Blockers Phase 4
4 Diuretics, Potassium Sparing Phase 4
5 diuretics Phase 4
6
Atorvastatin Approved Phase 2 134523-00-5 60823
7
Tolvaptan Approved Phase 2 150683-30-0 216237
8 Antimetabolites Phase 2
9 Hypolipidemic Agents Phase 2
10 Anticholesteremic Agents Phase 2
11 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
12 Lipid Regulating Agents Phase 2
13
Metformin Approved Phase 1 1115-70-4, 657-24-9 4091
14 Arginine Vasopressin Phase 1
15 Hypoglycemic Agents Phase 1
16
Indomethacin Approved, Investigational 53-86-1 3715
17
Sodium citrate Approved, Investigational 68-04-2 23431961
18
Hydrochlorothiazide Approved, Vet_approved 58-93-5 3639
19
Sildenafil Approved, Investigational 139755-83-2, 171599-83-0 5212 135398744
20
Salmon calcitonin Approved, Investigational 47931-85-1 155817456
21
Chlorothiazide Approved, Vet_approved 58-94-6 2720
22
Sevoflurane Approved, Vet_approved 28523-86-6 5206
23
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
24
Arginine Approved, Investigational, Nutraceutical 74-79-3 6322
25
Calcitonin gene-related peptide Investigational 83652-28-2 91976570
26 Antirheumatic Agents
27 Amiloride, hydrochlorothiazide drug combination
28 Hormones
29
Calcitonin
30 Antihypertensive Agents
31 Phosphodiesterase Inhibitors
32 Phosphodiesterase 5 Inhibitors
33 Cyclooxygenase Inhibitors
34 Vasodilator Agents
35 Calcium, Dietary
36 Anti-Inflammatory Agents, Non-Steroidal
37 Sodium Chloride Symporter Inhibitors
38 Anti-Inflammatory Agents
39 Analgesics, Non-Narcotic
40 Analgesics
41 Citrate
42 Katacalcin 16172926
43 Tocolytic Agents
44 Platelet Aggregation Inhibitors
45 Anesthetics, Inhalation
46 Anesthetics, General
47 Anesthetics
48 Vasopressins
49 Vasoconstrictor Agents
50 Hemostatics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 AMIloride for the Treatment of Nephrogenic Diabetes Insipidus for Patients With Bipolar Disorder Treated With Lithium: a Randomized Controlled Trial Not yet recruiting NCT05044611 Phase 4 Anhydrous Amiloride Hydrochloride;Placebo
2 Atorvastatin for the Treatment of Lithium-Induced Nephrogenic Diabetes Insipidus: A Randomized Controlled Trial Completed NCT02967653 Phase 2 Atorvastatin
3 A Multi-center, Open-Label, Exploratory Study to Assess the Efficacy of PB in Decreasing the Urine Output and Increasing the Urine Osmolality in Patients With Hereditary Nephrogenic Diabetes Insipidus, Patients With Autosomal Dominant Polycystic Kidney Disease Treated With Tolvaptan, And Severely Polyuric Patients With Previous Lithium Administration (Serendipity-PB1) Recruiting NCT05190744 Phase 2 PB
4 Use of Metformin to Treat Patients With Congenital Nephrogenic Diabetes Insipidus (NDI) Terminated NCT02460354 Phase 1 Metformin
5 Pharmacologic Treatment of Congenital Nephrogenic Diabetes Insipidus Completed NCT00478335 sildenafil;calcitonin;hydrochlorothiazide/amiloride;indomethacin;Placebo for sildenafil;placebo for calcitonin
6 Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus Completed NCT00004360 chlorothiazide
7 Incidence of Nephrogenic Diabetes Insipidus During Prolonged Sevoflurane Sedation in the Intensive Care Unit: a Retrospective Analysis Recruiting NCT04939753 Sevoflurane
8 Decline in Renal Concentration Ability in Lithium Treated Patients Not yet recruiting NCT05307042

Search NIH Clinical Center for Nephrogenic Diabetes Insipidus

Cochrane evidence based reviews: diabetes insipidus, nephrogenic

Genetic Tests for Nephrogenic Diabetes Insipidus

Genetic tests related to Nephrogenic Diabetes Insipidus:

# Genetic test Affiliating Genes
1 Nephrogenic Diabetes Insipidus 28

Anatomical Context for Nephrogenic Diabetes Insipidus

Organs/tissues related to Nephrogenic Diabetes Insipidus:

MalaCards : Kidney, Pituitary, Bone Marrow, Brain, Prostate, Lung, T Cells

Publications for Nephrogenic Diabetes Insipidus

Articles related to Nephrogenic Diabetes Insipidus:

(show top 50) (show all 1591)
# Title Authors PMID Year
1
Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus. 53 62 5
19812297 2009
2
AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance. 53 62 5
18726898 2008
3
Rescue of a nephrogenic diabetes insipidus-causing vasopressin V2 receptor mutant by cell-penetrating peptides. 53 62 5
17491025 2007
4
A case of nephrogenic diabetes insipidus with a novel missense mutation in the AVPR2 gene. 53 62 5
17216256 2007
5
Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus. 53 62 5
16120822 2005
6
Nephrogenic diabetes insipidus caused by mutation of Tyr205: a key residue of V2 vasopressin receptor function. 53 62 5
15841479 2005
7
Glycosylation is important for cell surface expression of the water channel aquaporin-2 but is not essential for tetramerization in the endoplasmic reticulum. 53 62 5
14593099 2004
8
Importance of aquaporin-2 expression levels in genotype -phenotype studies in nephrogenic diabetes insipidus. 53 62 5
10997928 2000
9
Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus. 53 62 5
10820168 2000
10
Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants. 53 62 5
10749568 2000
11
Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families. 53 62 5
10770218 2000
12
Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype. 53 62 5
9773787 1998
13
Mutations in the vasopressin V2 receptor and aquaporin-2 genes in twelve families with congenital nephrogenic diabetes insipidus. 53 62 5
10026829 1998
14
Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: two recurrent mutations, R137H and deltaV278, caused by the hypermutability at CpG dinucleotides. 53 62 5
9452109 1998
15
Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus. 53 62 5
9402087 1997
16
Defects in G protein-coupled signal transduction in human disease. 53 62 5
8815789 1996
17
Molecular biology of diabetes insipidus. 53 62 5
7541187 1995
18
Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. 53 62 5
8037205 1994
19
Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus. 53 62 5
7913579 1994
20
A Null mutation in the vasopressin V2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus in the Hopewell kindred. 53 62 5
8401502 1993
21
Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. 53 62 5
1303271 1992
22
Biased agonist pharmacochaperones of the AVP V2 receptor may treat congenital nephrogenic diabetes insipidus. 62 5
19729439 2009
23
Congenital nephrogenic diabetes insipidus presented with bilateral hydronephrosis: genetic analysis of V2R gene mutations. 62 5
16502494 2006
24
Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidus. 62 5
16319185 2006
25
Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus. 62 5
16361827 2005
26
Disease-causing V(2) vasopressin receptors are retained in different compartments of the early secretory pathway. 62 5
15522100 2004
27
Nephrogenic diabetes insipidus. 62 5
11128419 2000
28
Vasopressin receptor mutations and nephrogenic diabetes insipidus. 62 5
10714359 1999
29
Molecular analysis of X-linked nephrogenic diabetes insipidus. 62 5
8766931 1996
30
A low-affinity vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus. 62 5
8704106 1996
31
Molecular characterization of nephrogenic diabetes insipidus. 62 5
18407239 1994
32
Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus. 62 5
7833930 1994
33
Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus. 62 5
7933835 1994
34
Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. 62 5
1303257 1992
35
Genetic variation in human aquaporins and effects on phenotypes of water homeostasis. 5
18470935 2008
36
Protein-misfolding diseases and chaperone-based therapeutic approaches. 5
16689923 2006
37
The subcellular localization of an aquaporin-2 tetramer depends on the stoichiometry of phosphorylated and nonphosphorylated monomers. 5
11076974 2000
38
Localization of G-protein-coupled receptors in health and disease. 5
10918636 2000
39
Consequences of aquaporin 2 tetramerization for genetics and routing. 5
11143979 2000
40
A novel mutation in the AVPR2 gene (222delA) associated with X-linked nephrogenic diabetes insipidus in a boy with growth failure. 53 62
19703807 2010
41
Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families. 53 62
20389105 2010
42
Effect of the cGMP pathway on AQP2 expression and translocation: potential implications for nephrogenic diabetes insipidus. 53 62
19666909 2010
43
p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation. 53 62
19585583 2009
44
Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus. 53 62
19701945 2009
45
Identification, characterization and rescue of a novel vasopressin-2 receptor mutation causing nephrogenic diabetes insipidus. 53 62
19170711 2009
46
Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype. 53 62
19458121 2009
47
Intracellular activation of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus by nonpeptide agonists. 53 62
19587238 2009
48
Wilms tumor arising in a child with X-linked nephrogenic diabetes insipidus. 53 62
19294427 2009
49
Aquaporins: translating bench research to human disease. 53 62
19448080 2009
50
Hsp90 inhibitor partially corrects nephrogenic diabetes insipidus in a conditional knock-in mouse model of aquaporin-2 mutation. 53 62
18854434 2009

Variations for Nephrogenic Diabetes Insipidus

ClinVar genetic disease variations for Nephrogenic Diabetes Insipidus:

5 (show all 49)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AVPR2 NM_000054.7(AVPR2):c.614A>G (p.Tyr205Cys) SNV Pathogenic
10838 rs104894749 GRCh37: X:153171574-153171574
GRCh38: X:153906120-153906120
2 AVPR2 NM_000054.7(AVPR2):c.838dup (p.Tyr280fs) DUP Pathogenic
35747 rs193922121 GRCh37: X:153171797-153171798
GRCh38: X:153906343-153906344
3 AQP5-AS1, AQP2 NM_000486.6(AQP2):c.375del (p.Thr126fs) DEL Pathogenic
988214 rs764380594 GRCh37: 12:50347952-50347952
GRCh38: 12:49954169-49954169
4 AQP5-AS1, AQP2 NM_000486.6(AQP2):c.559C>T (p.Arg187Cys) SNV Pathogenic
17828 rs104894328 GRCh37: 12:50348446-50348446
GRCh38: 12:49954663-49954663
5 AQP2 NM_000486.6(AQP2):c.277C>T (p.Gln93Ter) SNV Pathogenic
446861 rs770810694 GRCh37: 12:50344890-50344890
GRCh38: 12:49951107-49951107
6 AQP2 NM_000486.6(AQP2):c.190G>A (p.Gly64Arg) SNV Likely Pathogenic
17830 rs104894326 GRCh37: 12:50344803-50344803
GRCh38: 12:49951020-49951020
7 AQP5-AS1, AQP2 NM_000486.6(AQP2):c.763C>T (p.Gln255Ter) SNV Likely Pathogenic
285666 rs370879515 GRCh37: 12:50349338-50349338
GRCh38: 12:49955555-49955555
8 AQP5-AS1, AQP2 NM_000486.6(AQP2):c.450T>A (p.Asp150Glu) SNV Likely Pathogenic
441134 rs770932012 GRCh37: 12:50348027-50348027
GRCh38: 12:49954244-49954244
9 AVPR2 NM_000054.7(AVPR2):c.853G>C (p.Ala285Pro) SNV Likely Pathogenic
35748 rs193922122 GRCh37: X:153171813-153171813
GRCh38: X:153906359-153906359
10 AVPR2 NM_000054.7(AVPR2):c.963C>A (p.Asn321Lys) SNV Likely Pathogenic
35749 rs193922123 GRCh37: X:153172029-153172029
GRCh38: X:153906575-153906575
11 AVPR2 NM_000054.7(AVPR2):c.673C>T (p.Gln225Ter) SNV Likely Pathogenic
35743 rs193922117 GRCh37: X:153171633-153171633
GRCh38: X:153906179-153906179
12 AVPR2 NM_000054.7(AVPR2):c.752_758del (p.Arg251fs) DEL Likely Pathogenic
35744 rs193922118 GRCh37: X:153171708-153171714
GRCh38: X:153906254-153906260
13 AVPR2 NM_000054.7(AVPR2):c.770del (p.Gly257fs) DEL Likely Pathogenic
35745 rs193922119 GRCh37: X:153171729-153171729
GRCh38: X:153906275-153906275
14 AVPR2 NM_000054.7(AVPR2):c.819_821del (p.Leu274del) DEL Likely Pathogenic
35746 rs193922120 GRCh37: X:153171779-153171781
GRCh38: X:153906325-153906327
15 AQP2 NM_000486.6(AQP2):c.223T>G (p.Cys75Gly) SNV Likely Pathogenic
35693 rs193922494 GRCh37: 12:50344836-50344836
GRCh38: 12:49951053-49951053
16 AQP5-AS1, AQP2 NM_000486.6(AQP2):c.560G>A (p.Arg187His) SNV Likely Pathogenic
35695 rs193922495 GRCh37: 12:50348447-50348447
GRCh38: 12:49954664-49954664
17 AQP5-AS1, AQP2 NM_000486.6(AQP2):c.785del (p.Pro262fs) DEL Likely Pathogenic
35696 rs193922496 GRCh37: 12:50349359-50349359
GRCh38: 12:49955576-49955576
18 AVPR2 NM_000054.7(AVPR2):c.176T>C (p.Leu59Pro) SNV Likely Pathogenic
35737 rs193922112 GRCh37: X:153171136-153171136
GRCh38: X:153905682-153905682
19 AVPR2 NM_000054.7(AVPR2):c.290T>C (p.Leu97Pro) SNV Likely Pathogenic
35738 rs193922113 GRCh37: X:153171250-153171250
GRCh38: X:153905796-153905796
20 AVPR2 NM_000054.7(AVPR2):c.409C>G (p.Arg137Gly) SNV Likely Pathogenic
35739 rs104894761 GRCh37: X:153171369-153171369
GRCh38: X:153905915-153905915
21 AVPR2 NM_000054.7(AVPR2):c.424del (p.Cys142fs) DEL Likely Pathogenic
35740 rs193922114 GRCh37: X:153171384-153171384
GRCh38: X:153905930-153905930
22 AVPR2 NM_000054.7(AVPR2):c.472del (p.Arg158fs) DEL Likely Pathogenic
35741 rs193922115 GRCh37: X:153171431-153171431
GRCh38: X:153905977-153905977
23 AVPR2 NM_000054.7(AVPR2):c.554del (p.Gly185fs) DEL Likely Pathogenic
35742 rs193922116 GRCh37: X:153171513-153171513
GRCh38: X:153906059-153906059
24 AVPR2 NM_000054.7(AVPR2):c.964C>A (p.Pro322Thr) SNV Likely Pathogenic
1700646 GRCh37: X:153172030-153172030
GRCh38: X:153906576-153906576
25 AQP5-AS1, AQP2 NM_000486.6(AQP2):c.*1730del DEL Uncertain Significance
309258 rs141050726 GRCh37: 12:50351120-50351120
GRCh38: 12:49957337-49957337
26 AQP2 NM_000486.6(AQP2):c.135C>T (p.Ala45=) SNV Uncertain Significance
989549 rs1947324370 GRCh37: 12:50344748-50344748
GRCh38: 12:49950965-49950965
27 AQP2 NM_000486.6(AQP2):c.141G>A (p.Ala47=) SNV Uncertain Significance
733227 rs140262864 GRCh37: 12:50344754-50344754
GRCh38: 12:49950971-49950971
28 AQP2 NM_000486.6(AQP2):c.189C>T (p.Ser63=) SNV Uncertain Significance
763310 rs200279968 GRCh37: 12:50344802-50344802
GRCh38: 12:49951019-49951019
29 AQP5-AS1, AQP2 NM_000486.6(AQP2):c.459C>T (p.Arg153=) SNV Uncertain Significance
733151 rs201617819 GRCh37: 12:50348036-50348036
GRCh38: 12:49954253-49954253
30 AQP5-AS1, AQP2 NM_000486.6(AQP2):c.471G>A (p.Pro157=) SNV Uncertain Significance
737819 rs138000704 GRCh37: 12:50348048-50348048
GRCh38: 12:49954265-49954265
31 AQP5-AS1, AQP2 NM_000486.6(AQP2):c.702G>A (p.Leu234=) SNV Uncertain Significance
724199 rs143104356 GRCh37: 12:50349277-50349277
GRCh38: 12:49955494-49955494
32 AQP5-AS1, AQP2 NM_000486.6(AQP2):c.447C>T (p.Thr149=) SNV Likely Benign
763955 rs369985708 GRCh37: 12:50348024-50348024
GRCh38: 12:49954241-49954241
33 AQP2 NM_000486.6(AQP2):c.204C>T (p.Asn68=) SNV Likely Benign
713761 rs57915981 GRCh37: 12:50344817-50344817
GRCh38: 12:49951034-49951034
34 AQP2 NM_000486.6(AQP2):c.324G>A (p.Thr108=) SNV Likely Benign
766662 rs143940351 GRCh37: 12:50344937-50344937
GRCh38: 12:49951154-49951154
35 AQP5-AS1, AQP2 NM_000486.6(AQP2):c.768G>C (p.Ser256=) SNV Likely Benign
796960 rs771955610 GRCh37: 12:50349343-50349343
GRCh38: 12:49955560-49955560
36 AQP2 NM_000486.6(AQP2):c.70G>A (p.Val24Ile) SNV Likely Benign
309232 rs200706192 GRCh37: 12:50344683-50344683
GRCh38: 12:49950900-49950900
37 AQP2 NM_000486.6(AQP2):c.39G>A (p.Val13=) SNV Likely Benign
256244 rs61733029 GRCh37: 12:50344652-50344652
GRCh38: 12:49950869-49950869
38 AQP5-AS1, AQP2 NM_000486.6(AQP2):c.579C>T (p.Val193=) SNV Likely Benign
718766 rs201812544 GRCh37: 12:50348466-50348466
GRCh38: 12:49954683-49954683
39 AQP2 NM_000486.6(AQP2):c.162C>G (p.Thr54=) SNV Likely Benign
798770 rs143497314 GRCh37: 12:50344775-50344775
GRCh38: 12:49950992-49950992
40 AQP2 NM_000486.6(AQP2):c.345C>T (p.Asp115=) SNV Likely Benign
256242 rs60629501 GRCh37: 12:50344958-50344958
GRCh38: 12:49951175-49951175
41 AQP2 NM_000486.6(AQP2):c.297C>T (p.Ala99=) SNV Likely Benign
798912 rs959834754 GRCh37: 12:50344910-50344910
GRCh38: 12:49951127-49951127
42 AQP5-AS1, AQP2 NM_000486.6(AQP2):c.438C>T (p.Phe146=) SNV Likely Benign
35694 rs143886391 GRCh37: 12:50348015-50348015
GRCh38: 12:49954232-49954232
43 AQP5-AS1, AQP2 NM_000486.6(AQP2):c.501T>C (p.Ser167=) SNV Benign
504917 rs426496 GRCh37: 12:50348078-50348078
GRCh38: 12:49954295-49954295
44 AQP2 NM_000486.6(AQP2):c.342G>A (p.Gly114=) SNV Benign
256241 rs35400945 GRCh37: 12:50344955-50344955
GRCh38: 12:49951172-49951172
45 AQP2 NM_000486.6(AQP2):c.360+3G>A SNV Benign
256243 rs3741559 GRCh37: 12:50344976-50344976
GRCh38: 12:49951193-49951193
46 AQP5-AS1, AQP2 NM_000486.6(AQP2):c.607-3del DEL Benign
763857 rs754520891 GRCh37: 12:50349175-50349175
GRCh38: 12:49955392-49955392
47 AQP5-AS1, AQP2 NM_000486.6(AQP2):c.*2290CT[1] MICROSAT Benign
309263 rs72283122 GRCh37: 12:50351680-50351683
GRCh38: 12:49957897-49957900
48 AVPR2 NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys) SNV Not Provided
10853 rs104894760 GRCh37: X:153171270-153171270
GRCh38: X:153905816-153905816
49 AQP5-AS1, AQP2 NM_000486.6(AQP2):c.439G>A (p.Ala147Thr) SNV Not Provided
17832 rs104894334 GRCh37: 12:50348016-50348016
GRCh38: 12:49954233-49954233

Expression for Nephrogenic Diabetes Insipidus

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

Pathways for Nephrogenic Diabetes Insipidus

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 SLC12A1 MIP CLCNKA BSND AVPR2 AVP
2
Show member pathways
11.21 MIP AVPR2 AVP AQP4 AQP3 AQP2
3 10.9 SLC12A1 CLCNKA BSND
4
Show member pathways
10.3 OXTR OXT AVPR2 AVP

GO Terms for Nephrogenic Diabetes Insipidus

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005887 10.13 AQP1 AQP2 AQP4 AVPR2 BSND CASR
2 plasma membrane GO:0005886 10.13 AQP1 AQP2 AQP4 AVPR2 BSND CASR
3 apical plasma membrane GO:0016324 10.03 SLC12A1 OXTR MIP CASR AQP2 AQP1
4 membrane GO:0016021 9.94 AQP1 AQP2 AQP3 AQP4 ARHGAP1 AVPR2
5 membrane GO:0016020 9.94 AQP1 AQP2 AQP3 AQP4 ARHGAP1 AVPR2
6 basolateral plasma membrane GO:0016323 9.93 CASR BSND AQP4 AQP3 AQP2 AQP1

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 chloride transmembrane transport GO:1902476 10.15 SLC12A1 CLCNKA CASR BSND
2 protein homotetramerization GO:0051289 10.11 MIP AQP4 AQP2
3 social behavior GO:0035176 10.1 AVP OXT OXTR
4 female pregnancy GO:0007565 10.1 OXTR OXT LNPEP AQP4
5 transmembrane transport GO:0055085 10.06 SLC12A1 MIP CLCNKA AQP4 AQP3 AQP2
6 sleep GO:0030431 9.95 OXTR OXT
7 positive regulation of systemic arterial blood pressure GO:0003084 9.94 AVPR2 AVP
8 positive regulation of uterine smooth muscle contraction GO:0070474 9.93 OXTR OXT
9 cellular water homeostasis GO:0009992 9.92 AQP4 AQP1
10 sperm ejaculation GO:0042713 9.92 OXTR OXT
11 regulation of systemic arterial blood pressure by vasopressin GO:0001992 9.91 AVPR2 OXTR
12 maternal behavior GO:0042711 9.91 AVP OXT OXTR
13 positive regulation of penile erection GO:0060406 9.9 OXT OXTR
14 negative regulation of gastric acid secretion GO:0060455 9.89 OXT OXTR
15 renal water absorption GO:0070295 9.88 AQP1 AQP3
16 positive regulation of blood pressure GO:0045777 9.88 OXTR OXT AVPR2
17 positive regulation of norepinephrine secretion GO:0010701 9.87 OXTR OXT
18 renal water transport GO:0003097 9.86 AQP2 AQP1
19 multicellular organismal water homeostasis GO:0050891 9.85 AVP AQP4 AQP1
20 cellular response to mercury ion GO:0071288 9.84 AQP2 AQP1
21 maternal aggressive behavior GO:0002125 9.83 OXT AVP
22 response to organic cyclic compound GO:0014070 9.81 AVP CASR OXT OXTR
23 glycerol transmembrane transport GO:0015793 9.8 AQP1 AQP2 AQP3
24 negative regulation of urine volume GO:0035811 9.79 OXT AVPR2
25 positive regulation of vasoconstriction GO:0045907 9.76 OXTR CASR AVPR2 AVP
26 water homeostasis GO:0030104 9.75 AQP4 AQP1
27 hyperosmotic salinity response GO:0042538 9.73 OXT AVP AQP4
28 renal water homeostasis GO:0003091 9.56 AQP4 AQP3 AQP2 AQP1
29 regulation of digestive system process GO:0044058 9.46 OXTR OXT
30 water transport GO:0006833 9.4 MIP AVP AQP4 AQP3 AQP2 AQP1

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

# Name GO ID Score Top Affiliating Genes
1 peptide binding GO:0042277 9.88 OXTR LNPEP AVPR2
2 vasopressin receptor activity GO:0005000 9.67 OXTR AVPR2
3 water transmembrane transporter activity GO:0005372 9.62 AQP2 AQP1
4 glycerol transmembrane transporter activity GO:0015168 9.56 AQP2 AQP1
5 neurohypophyseal hormone activity GO:0005185 9.46 OXT AVP
6 channel activity GO:0015267 9.35 MIP AQP4 AQP3 AQP2 AQP1
7 water channel activity GO:0015250 9.32 MIP AQP4 AQP3 AQP2 AQP1

Sources for Nephrogenic Diabetes Insipidus

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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