ANDI
MCID: DBT091
MIFTS: 67

Diabetes Insipidus, Nephrogenic, Autosomal (ANDI)

Categories: Endocrine diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Diabetes Insipidus, Nephrogenic, Autosomal

MalaCards integrated aliases for Diabetes Insipidus, Nephrogenic, Autosomal:

Name: Diabetes Insipidus, Nephrogenic, Autosomal 57 75 40
Nephrogenic Diabetes Insipidus 12 76 24 53 25 59 29 6 15 73
Diabetes Insipidus, Nephrogenic 57 25 13 44
Congenital Nephrogenic Diabetes Insipidus 25 37 73
Vasopressin-Resistant Diabetes Insipidus 12 53 25
Nephrogenic Diabetes Insipidus, Autosomal 29 6
Nephrogenic Diabetes Insipidus, X-Linked 29 6
Adh-Resistant Diabetes Insipidus 25 73
Diabetes Insipidus Nephrogenic 53 55
Diabetes Insipidus, Nephrogenic, Type Ii 57
Diabetes Insipidus Nephrogenic X-Linked 53
Diabetes Insipidus, Nephrogenic Type 2 76
Diabetes Insipidus Nephrogenic Type 1 53
Diabetes Insipidus Nephrogenic Type 2 75
Adh Resistant Diabetes Insipidus 53
Diabetes Insipidus Renalis 25
Andi 75
Ndi 25

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive
autosomal dominant

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


HPO:

32
diabetes insipidus, nephrogenic, autosomal:
Inheritance heterogeneous autosomal recessive inheritance autosomal dominant inheritance
Onset and clinical course neonatal onset


Classifications:

Orphanet: 59  
Rare renal diseases


Summaries for Diabetes Insipidus, Nephrogenic, Autosomal

NIH Rare Diseases : 53 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.

MalaCards based summary : Diabetes Insipidus, Nephrogenic, Autosomal, also known as nephrogenic diabetes insipidus, is related to diabetes insipidus, nephrogenic, x-linked and diabetes insipidus, neurohypophyseal. An important gene associated with Diabetes Insipidus, Nephrogenic, Autosomal is AQP2 (Aquaporin 2), and among its related pathways/superpathways are Vasopressin-regulated water reabsorption and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Affiliated tissues include kidney, bone and brain, and related phenotypes are seizures and failure to thrive

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

Genetics Home Reference : 25 Nephrogenic diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with nephrogenic diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected individuals can quickly become dehydrated if they do not drink enough water, especially in hot weather or when they are sick.

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Nephrogenic diabetes insipidus (also known as renal diabetes insipidus) is a form of diabetes insipidus... more...

GeneReviews: NBK1177

Related Diseases for Diabetes Insipidus, Nephrogenic, Autosomal

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

(show top 50) (show all 114)
# Related Disease Score Top Affiliating Genes
1 diabetes insipidus, nephrogenic, x-linked 33.0 AVPR2 AQP2
2 diabetes insipidus, neurohypophyseal 31.6 LNPEP AVPR2 AVP AQP2
3 nephrocalcinosis 30.4 SLC12A1 CASR ATP6V0A4
4 nephrogenic syndrome of inappropriate antidiuresis 30.4 AVPR2 AVP
5 bartter disease 30.3 SLC12A1 CLCNKA CASR
6 diabetes insipidus 30.2 SLC12A1 CLCNKA AVPR2 AVP ARHGAP4 AQP2
7 bartter syndrome, type 1, antenatal 30.1 SLC12A1 ATP6V0A4
8 polyhydramnios 30.0 SLC12A1 AQP3 AQP1
9 central pontine myelinolysis 29.9 AVP AQP4 AQP1
10 diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification 12.4
11 hydronephrosis 10.6
12 renal tubular acidosis 10.5
13 fanconi syndrome 10.4
14 hyperparathyroidism 10.4
15 rickets 10.4
16 hereditary hypophosphatemic rickets 10.3
17 cystinosis 10.3
18 amyloidosis 10.3
19 renal tubular acidosis, distal 10.3
20 peripheral vertigo 10.2 AVP AQP2
21 vestibular disease 10.2 AVP AQP2
22 idiopathic edema 10.2 AQP2 AQP1
23 motion sickness 10.2 AVP AQP1
24 cystinosis, nephropathic 10.2
25 hydrocephalus 10.2
26 interstitial nephritis 10.2
27 primary hyperparathyroidism 10.2
28 bladder neck obstruction 10.2
29 ureteral obstruction 10.2
30 acquired immunodeficiency syndrome 10.2
31 hypervitaminosis d 10.2
32 gestational diabetes insipidus 10.2 LNPEP AVP
33 syndrome of inappropriate antidiuretic hormone 10.2 AVPR2 AVP AQP2
34 familial hypocalciuric hypercalcemia 10.1 CASR ARHGAP4
35 arthrogryposis, renal dysfunction, and cholestasis 1 10.1
36 osteopetrosis, autosomal recessive 3 10.1 ATP6V0A4 AQP2
37 bullous keratopathy 10.0 MIP AQP3
38 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.0 AVP AQP3 AQP2
39 autosomal dominant polycystic kidney disease 10.0 AVPR2 AVP AQP2 AQP1
40 renal cell carcinoma, nonpapillary 10.0
41 systemic lupus erythematosus 10.0
42 hypokalemic periodic paralysis, type 1 10.0
43 prostate cancer 10.0
44 proteus syndrome 10.0
45 rheumatoid arthritis 10.0
46 small cell cancer of the lung 10.0
47 lipoid congenital adrenal hyperplasia 10.0
48 lung cancer 10.0
49 cystathioninuria 10.0
50 spinal muscular atrophy, type i 10.0

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


Acute Cystitis Bipolar Disorder
Diabetes Insipidus

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



Diseases related to Diabetes Insipidus, Nephrogenic, Autosomal

Symptoms & Phenotypes for Diabetes Insipidus, Nephrogenic, Autosomal

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
mental retardation can occur in patients with repeated episodes of dehydration

Abdomen Gastrointestinal:
constipation
polydipsia
vomiting
poor feeding

Neurologic Behavioral Psychiatric Manifestations:
irritability

Genitourinary Kidneys:
polyuria

Metabolic Features:
hypertonic dehydration
unexplained fevers

Growth Other:
failure to thrive

Growth Height:
short stature

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
Genitourinary Bladder:
lower urinary tract dilatation may occur over time


Clinical features from OMIM:

125800

Human phenotypes related to Diabetes Insipidus, Nephrogenic, Autosomal:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
2 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
3 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
4 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
5 global developmental delay 59 32 very rare (1%) Very rare (<4-1%) HP:0001263
6 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
7 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
8 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
9 polydipsia 59 32 frequent (33%) Frequent (79-30%) HP:0001959
10 nephrogenic diabetes insipidus 59 32 obligate (100%) Obligate (100%) HP:0009806
11 feeding difficulties 59 32 occasional (7.5%) Occasional (29-5%) HP:0011968
12 anorexia 59 32 frequent (33%) Frequent (79-30%) HP:0002039
13 polyhydramnios 59 32 very rare (1%) Very rare (<4-1%) HP:0001561
14 hydroureter 59 32 occasional (7.5%) Occasional (29-5%) HP:0000072
15 enuresis nocturna 59 32 very rare (1%) Very rare (<4-1%) HP:0010677
16 hypovolemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011106
17 hyposthenuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003158
18 hypernatremia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003228
19 hypernatremic dehydration 59 32 hallmark (90%) Very frequent (99-80%) HP:0004906
20 intellectual disability 32 HP:0001249
21 feeding difficulties in infancy 32 HP:0008872
22 vomiting 32 HP:0002013
23 irritability 32 HP:0000737
24 growth delay 59 Occasional (29-5%)
25 megacystis 32 HP:0000021
26 functional abnormality of the bladder 59 Occasional (29-5%)
27 polyuria 32 HP:0000103
28 hypertonic dehydration 32 HP:0001986
29 unexplained fevers 32 HP:0001955

MGI Mouse Phenotypes related to Diabetes Insipidus, Nephrogenic, Autosomal:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.14 AQP1 AQP2 AQP3 AQP4 ATP6V0A4 AVP
2 growth/size/body region MP:0005378 10.11 AQP1 AQP2 AQP3 AQP4 ATP6V0A4 AVPR2
3 homeostasis/metabolism MP:0005376 10 AQP1 AQP2 AQP3 AQP4 ATP6V0A4 AVP
4 mortality/aging MP:0010768 9.9 AQP1 AQP2 AQP3 AQP4 ATP6V0A4 AVP
5 hearing/vestibular/ear MP:0005377 9.72 AQP1 AQP3 AQP4 ATP6V0A4 CLCNKA
6 renal/urinary system MP:0005367 9.65 AQP1 AQP2 AQP3 AQP4 ATP6V0A4 AVP
7 vision/eye MP:0005391 9.1 AQP1 AQP3 AQP4 CASR L1CAM MIP

Drugs & Therapeutics for Diabetes Insipidus, Nephrogenic, Autosomal

Search Clinical Trials , NIH Clinical Center for Diabetes Insipidus, Nephrogenic, Autosomal

Cochrane evidence based reviews: diabetes insipidus, nephrogenic

Genetic Tests for Diabetes Insipidus, Nephrogenic, Autosomal

Genetic tests related to Diabetes Insipidus, Nephrogenic, Autosomal:

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

Anatomical Context for Diabetes Insipidus, Nephrogenic, Autosomal

MalaCards organs/tissues related to Diabetes Insipidus, Nephrogenic, Autosomal:

41
Kidney, Bone, Brain, Lung, Prostate, Spinal Cord, T Cells

Publications for Diabetes Insipidus, Nephrogenic, Autosomal

Articles related to Diabetes Insipidus, Nephrogenic, Autosomal:

(show top 50) (show all 676)
# Title Authors Year
1
Nephrogenic Diabetes Insipidus. ( 30454745 )
2019
2
Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree. ( 29394883 )
2018
3
Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus. ( 29594432 )
2018
4
AKAPs-PKA disruptors increase AQP2 activity independently of vasopressin in a model of nephrogenic diabetes insipidus. ( 29650969 )
2018
5
Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus. ( 29527380 )
2018
6
Systemic lupus erythematosus with SjAPgren's syndrome and renal tubular acidosis presenting as nephrogenic diabetes insipidus. ( 29657217 )
2018
7
Nephrogenic diabetes insipidus in initial stage of acute lymphoblastic leukemia and relapse after haploidentical hematopoietic stem-cell transplantation: A case report. ( 29901649 )
2018
8
Functional characterization of AVPR2 mutants found in Turkish patients with nephrogenic diabetes insipidus. ( 29117938 )
2018
9
Tamoxifen attenuates development of lithium-induced nephrogenic diabetes insipidus in rats. ( 29357422 )
2018
10
Treatment of congenital nephrogenic diabetes insipidus in pregnancy. ( 29512817 )
2018
11
Nephrogenic Diabetes Insipidus in Childhood: Assessment of Volume Status and Appropriate Fluid Replenishment. ( 29489607 )
2018
12
A Novel Mutation in the AVPR2 Gene Causing Congenital Nephrogenic Diabetes Insipidus ( 29991464 )
2018
13
Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling. ( 29996815 )
2018
14
Atorvastatin in the treatment of Lithium-induced nephrogenic diabetes insipidus: the protocol of a randomized controlled trial. ( 30012135 )
2018
15
Tamoxifen Decreases Lithium-Induced Natriuresis in Rats With Nephrogenic Diabetes Insipidus. ( 30050465 )
2018
16
Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations. ( 30073107 )
2018
17
Double Trouble - Severe Hypernatremia Secondary to Central Diabetes Insipidus Complicated by Hypercalcemic Nephrogenic Diabetes Insipidus: A Case Report. ( 30120219 )
2018
18
Complete Nephrogenic Diabetes Insipidus After Prolonged Sevoflurane Sedation: A Case Report About 3 Cases. ( 30130280 )
2018
19
Genetic deletion of ADP-activated P2Y12 receptor ameliorates lithium-induced nephrogenic diabetes insipidus in mice. ( 30257062 )
2018
20
Progranulin Deficient Mice Develop Nephrogenic Diabetes Insipidus. ( 30271659 )
2018
21
Activation of AQP2 water channels without vasopressin: therapeutic strategies for congenital nephrogenic diabetes insipidus. ( 29478202 )
2018
22
Use of acetazolamide in lithium-induced nephrogenic diabetes insipidus: a case report. ( 29479446 )
2018
23
Treatment regimens by pediatric nephrologists in children with congenital nephrogenic diabetes insipidus: A MWPNC studya8c. ( 29162216 )
2017
24
Novel<i>de novo AVPR2</i>Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus. ( 29177155 )
2017
25
Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update. ( 29125546 )
2017
26
A novel SLC12A1 gene mutation associated with hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis in four patients. ( 28095294 )
2017
27
Congenital nephrogenic diabetes insipidus in the Corpus Hippocraticum: The first description. ( 28742510 )
2017
28
Value of Renal Biopsy in Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus. ( 28276300 )
2017
29
Congenital nephrogenic diabetes insipidus complicated with Hinman syndrome. ( 28504419 )
2017
30
Nephrogenic diabetes insipidus. ( 28134709 )
2017
31
Hypercalcemia induces targeted autophagic degradation of aquaporin-2 at the onset of nephrogenic diabetes insipidus. ( 28139295 )
2017
32
Aliskiren increases aquaporin-2 expression and attenuates lithium-induced nephrogenic diabetes insipidus. ( 28228402 )
2017
33
Prasugrel suppresses development of lithium-induced nephrogenic diabetes insipidus in mice. ( 28233082 )
2017
34
Hyperactivation of Nrf2 in early tubular development induces nephrogenic diabetes insipidus. ( 28233855 )
2017
35
Bartter Syndrome with Nephrogenic Diabetes Insipidus and Vitamin D Resistant Rickets. ( 28285303 )
2017
36
Role of adenylyl cyclase 6 in the development of lithium-induced nephrogenic diabetes insipidus. ( 28405619 )
2017
37
A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers. ( 26795631 )
2016
38
Analysis of the V2 vasopressin receptor (V2R) mutations causing partial nephrogenic diabetes insipidus highlights a sustainable signaling by a non-peptide V2R agonist. ( 27601473 )
2016
39
Partial Nephrogenic Diabetes Insipidus in a Burned Patient Receiving Sevoflurane Sedation With an Anaesthetic Conserving Device-A Case Report. ( 27414478 )
2016
40
Signaling Modification by GPCR Heteromer and Its Implication on X-Linked Nephrogenic Diabetes Insipidus. ( 27649563 )
2016
41
Acetazolamide in Lithium-Induced Nephrogenic Diabetes Insipidus. ( 27959610 )
2016
42
Metformin improves urine concentration in rodents with nephrogenic diabetes insipidus. ( 27478876 )
2016
43
[Analysis of AVPR2 gene mutation in a pedigree affected with congenital nephrogenic diabetes insipidus]. ( 27577218 )
2016
44
A novel mutation affecting the arginine-137 residue of AVPR2 in dizygous twins leads to nephrogenic diabetes insipidus and attenuated urine exosome aquaporin-2. ( 27117808 )
2016
45
A novel AVPR2 gene mutation of X-linked congenital nephrogenic diabetes insipidus in an Asian pedigree. ( 27565746 )
2016
46
Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family. ( 26974133 )
2016
47
An unusual case of hereditary nephrogenic diabetes insipidus (HNDI) affecting mother and daughter. ( 26244674 )
2016
48
Identification of Potential Pharmacoperones Capable of Rescuing the Functionality of Misfolded Vasopressin 2 Receptor Involved in Nephrogenic Diabetes Insipidus. ( 27280550 )
2016
49
Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant). ( 27156763 )
2016
50
Bendamustine-Induced Nephrogenic Diabetes Insipidus inA aA Patient With AL Amyloidosis. ( 27780577 )
2016

Variations for Diabetes Insipidus, Nephrogenic, Autosomal

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

75 (show all 28)
# 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 rs995684800
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

ClinVar genetic disease variations for Diabetes Insipidus, Nephrogenic, Autosomal:

6 (show top 50) (show all 232)
# 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.395C> A (p.Ala132Asp) single nucleotide variant Pathogenic rs104894747 GRCh38 Chromosome X, 153905901: 153905901
4 AVPR2 NM_000054.4(AVPR2): c.553G> T (p.Gly185Cys) single nucleotide variant Pathogenic rs104894748 GRCh37 Chromosome X, 153171513: 153171513
5 AVPR2 NM_000054.4(AVPR2): c.553G> T (p.Gly185Cys) single nucleotide variant Pathogenic rs104894748 GRCh38 Chromosome X, 153906059: 153906059
6 AVPR2 NM_000054.4(AVPR2): c.614A> G (p.Tyr205Cys) single nucleotide variant Pathogenic rs104894749 GRCh37 Chromosome X, 153171574: 153171574
7 AVPR2 NM_000054.4(AVPR2): c.614A> G (p.Tyr205Cys) single nucleotide variant Pathogenic rs104894749 GRCh38 Chromosome X, 153906120: 153906120
8 AVPR2 NM_000054.4(AVPR2): c.607C> T (p.Arg203Cys) single nucleotide variant Pathogenic rs104894750 GRCh37 Chromosome X, 153171567: 153171567
9 AVPR2 NM_000054.4(AVPR2): c.607C> T (p.Arg203Cys) single nucleotide variant Pathogenic rs104894750 GRCh38 Chromosome X, 153906113: 153906113
10 AVPR2 NM_000054.4(AVPR2): c.337C> T (p.Arg113Trp) single nucleotide variant Pathogenic rs28935496 GRCh37 Chromosome X, 153171297: 153171297
11 AVPR2 NM_000054.4(AVPR2): c.337C> T (p.Arg113Trp) single nucleotide variant Pathogenic rs28935496 GRCh38 Chromosome X, 153905843: 153905843
12 AVPR2 AVPR2, 1-BP INS insertion Pathogenic
13 AVPR2 NM_000054.4(AVPR2): c.213G> A (p.Trp71Ter) single nucleotide variant Pathogenic rs104894751 GRCh37 Chromosome X, 153171173: 153171173
14 AVPR2 NM_000054.4(AVPR2): c.213G> A (p.Trp71Ter) single nucleotide variant Pathogenic rs104894751 GRCh38 Chromosome X, 153905719: 153905719
15 AVPR2 NM_000054.4(AVPR2): c.839A> G (p.Tyr280Cys) single nucleotide variant Pathogenic rs104894752 GRCh37 Chromosome X, 153171799: 153171799
16 AVPR2 NM_000054.4(AVPR2): c.839A> G (p.Tyr280Cys) single nucleotide variant Pathogenic rs104894752 GRCh38 Chromosome X, 153906345: 153906345
17 AVPR2 NM_000054.4(AVPR2): c.1009C> T (p.Arg337Ter) single nucleotide variant Pathogenic rs104894753 GRCh37 Chromosome X, 153172075: 153172075
18 AVPR2 NM_000054.4(AVPR2): c.1009C> T (p.Arg337Ter) single nucleotide variant Pathogenic rs104894753 GRCh38 Chromosome X, 153906621: 153906621
19 AVPR2 NM_000054.4(AVPR2): c.253G> A (p.Asp85Asn) single nucleotide variant Pathogenic rs104894754 GRCh37 Chromosome X, 153171213: 153171213
20 AVPR2 NM_000054.4(AVPR2): c.253G> A (p.Asp85Asn) single nucleotide variant Pathogenic rs104894754 GRCh38 Chromosome X, 153905759: 153905759
21 AVPR2 NM_000054.4(AVPR2): c.602G> A (p.Gly201Asp) single nucleotide variant Pathogenic rs104894755 GRCh37 Chromosome X, 153171562: 153171562
22 AVPR2 NM_000054.4(AVPR2): c.602G> A (p.Gly201Asp) single nucleotide variant Pathogenic rs104894755 GRCh38 Chromosome X, 153906108: 153906108
23 AVPR2 AVPR2, 1-BP INS, 804G insertion Pathogenic
24 AVPR2 NM_000054.4: c.102delG deletion Pathogenic
25 AVPR2 NM_000054.4(AVPR2): c.410G> A (p.Arg137His) single nucleotide variant Pathogenic rs104894756 GRCh37 Chromosome X, 153171370: 153171370
26 AVPR2 NM_000054.4(AVPR2): c.410G> A (p.Arg137His) single nucleotide variant Pathogenic rs104894756 GRCh38 Chromosome X, 153905916: 153905916
27 AVPR2 NM_000054.4(AVPR2): c.541C> T (p.Arg181Cys) single nucleotide variant Pathogenic rs104894757 GRCh37 Chromosome X, 153171501: 153171501
28 AVPR2 NM_000054.4(AVPR2): c.541C> T (p.Arg181Cys) single nucleotide variant Pathogenic rs104894757 GRCh38 Chromosome X, 153906047: 153906047
29 AVPR2 NM_000054.4(AVPR2): c.313T> G (p.Phe105Val) single nucleotide variant Pathogenic rs104894758 GRCh37 Chromosome X, 153171273: 153171273
30 AVPR2 NM_000054.4(AVPR2): c.313T> G (p.Phe105Val) single nucleotide variant Pathogenic rs104894758 GRCh38 Chromosome X, 153905819: 153905819
31 AVPR2 NM_000054.4(AVPR2): c.137T> A (p.Ile46Lys) single nucleotide variant Pathogenic rs104894759 GRCh37 Chromosome X, 153171097: 153171097
32 AVPR2 NM_000054.4(AVPR2): c.137T> A (p.Ile46Lys) single nucleotide variant Pathogenic rs104894759 GRCh38 Chromosome X, 153905643: 153905643
33 AVPR2 NM_000054.4(AVPR2): c.310C> T (p.Arg104Cys) single nucleotide variant Pathogenic rs104894760 GRCh37 Chromosome X, 153171270: 153171270
34 AVPR2 NM_000054.4(AVPR2): c.310C> T (p.Arg104Cys) single nucleotide variant Pathogenic rs104894760 GRCh38 Chromosome X, 153905816: 153905816
35 AQP2 NM_000486.5(AQP2): c.559C> T (p.Arg187Cys) single nucleotide variant Pathogenic rs104894328 GRCh37 Chromosome 12, 50348446: 50348446
36 AQP2 NM_000486.5(AQP2): c.559C> T (p.Arg187Cys) single nucleotide variant Pathogenic rs104894328 GRCh38 Chromosome 12, 49954663: 49954663
37 AQP2 NM_000486.5(AQP2): c.439G> A (p.Ala147Thr) single nucleotide variant Pathogenic rs104894334 GRCh37 Chromosome 12, 50348016: 50348016
38 AQP2 NM_000486.5(AQP2): c.439G> A (p.Ala147Thr) single nucleotide variant Pathogenic rs104894334 GRCh38 Chromosome 12, 49954233: 49954233
39 AQP2 NM_000486.5(AQP2): c.223T> G (p.Cys75Gly) single nucleotide variant Likely pathogenic rs193922494 GRCh37 Chromosome 12, 50344836: 50344836
40 AQP2 NM_000486.5(AQP2): c.223T> G (p.Cys75Gly) single nucleotide variant Likely pathogenic rs193922494 GRCh38 Chromosome 12, 49951053: 49951053
41 AQP2 NM_000486.5(AQP2): c.438C> T (p.Phe146=) single nucleotide variant Likely benign rs143886391 GRCh37 Chromosome 12, 50348015: 50348015
42 AQP2 NM_000486.5(AQP2): c.438C> T (p.Phe146=) single nucleotide variant Likely benign rs143886391 GRCh38 Chromosome 12, 49954232: 49954232
43 AQP2 NM_000486.5(AQP2): c.560G> A (p.Arg187His) single nucleotide variant Likely pathogenic rs193922495 GRCh37 Chromosome 12, 50348447: 50348447
44 AQP2 NM_000486.5(AQP2): c.560G> A (p.Arg187His) single nucleotide variant Likely pathogenic rs193922495 GRCh38 Chromosome 12, 49954664: 49954664
45 AQP2 NM_000486.5(AQP2): c.785delC (p.Pro262Argfs) deletion Likely pathogenic rs193922496 GRCh37 Chromosome 12, 50349360: 50349360
46 AQP2 NM_000486.5(AQP2): c.785delC (p.Pro262Argfs) deletion Likely pathogenic rs193922496 GRCh38 Chromosome 12, 49955577: 49955577
47 AVPR2 NM_000054.4(AVPR2): c.176T> C (p.Leu59Pro) single nucleotide variant Likely pathogenic rs193922112 GRCh37 Chromosome X, 153171136: 153171136
48 AVPR2 NM_000054.4(AVPR2): c.176T> C (p.Leu59Pro) single nucleotide variant Likely pathogenic rs193922112 GRCh38 Chromosome X, 153905682: 153905682
49 AVPR2 NM_000054.4(AVPR2): c.290T> C (p.Leu97Pro) single nucleotide variant Likely pathogenic rs193922113 GRCh37 Chromosome X, 153171250: 153171250
50 AVPR2 NM_000054.4(AVPR2): c.290T> C (p.Leu97Pro) single nucleotide variant Likely pathogenic rs193922113 GRCh38 Chromosome X, 153905796: 153905796

Expression for Diabetes Insipidus, Nephrogenic, Autosomal

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

Pathways for Diabetes Insipidus, Nephrogenic, Autosomal

Pathways related to Diabetes Insipidus, Nephrogenic, Autosomal according to KEGG:

37
# Name Kegg Source Accession
1 Vasopressin-regulated water reabsorption hsa04962

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

# 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, Autosomal

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

# 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 9.85 AQP1 AVPR2 CASR CLCNKA LNPEP MIP
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 10.1 AQP1 AQP2 AQP3 AQP4 ATP6V0A4 AVPR2
6 integral component of membrane GO:0016021 10.03 AQP1 AQP2 AQP3 AQP4 ATP6V0A4 AVPR2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.87 AQP1 AQP2 AQP3 AQP4 CLCNKA MIP
2 ion transmembrane transport GO:0034220 9.78 AQP1 ATP6V0A4 CLCNKA SLC12A1
3 cellular response to hypoxia GO:0071456 9.7 AQP1 AQP3 CASR
4 chloride transmembrane transport GO:1902476 9.67 CASR CLCNKA SLC12A1
5 positive regulation of vasoconstriction GO:0045907 9.63 AVP AVPR2 CASR
6 odontogenesis GO:0042476 9.56 AQP1 AQP3
7 cellular response to copper ion GO:0071280 9.55 AQP1 AQP2
8 excretion GO:0007588 9.55 AQP2 AQP3 ATP6V0A4 AVPR2 CLCNKA
9 cell volume homeostasis GO:0006884 9.54 AQP1 SLC12A1
10 multicellular organismal water homeostasis GO:0050891 9.54 AQP1 AQP4 AVP
11 positive regulation of systemic arterial blood pressure GO:0003084 9.51 AVP AVPR2
12 cellular response to mercury ion GO:0071288 9.43 AQP1 AQP2
13 glycerol transport GO:0015793 9.43 AQP1 AQP2 AQP3
14 renal water homeostasis GO:0003091 9.43 AQP1 AQP2 AQP3 AQP4 AVP AVPR2
15 renal water transport GO:0003097 9.4 AQP1 AQP2
16 water transport GO:0006833 9.1 AQP1 AQP2 AQP3 AQP4 AVP MIP

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

# Name GO ID Score Top Affiliating Genes
1 channel activity GO:0015267 9.35 AQP1 AQP2 AQP3 AQP4 MIP
2 water transmembrane transporter activity GO:0005372 9.33 AQP1 AQP2 AQP4
3 glycerol transmembrane transporter activity GO:0015168 9.26 AQP1 AQP2
4 water channel activity GO:0015250 9.02 AQP1 AQP2 AQP3 AQP4 MIP

Sources for Diabetes Insipidus, Nephrogenic, Autosomal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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