Nephrogenic Diabetes Insipidus disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

NDI MCID: NPH007 MIFTS: 61	Nephrogenic Diabetes Insipidus (NDI) Categories: Endocrine diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Nephrological diseases Neuronal diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Diseases of the genitourinary system

Other disorders of kidney and ureter

Disorders resulting from impaired renal tubular function

Nephrogenic diabetes insipidus

ICD11: ³³

Diseases of the genitourinary system

Diseases of the urinary system

Certain specified disorders of kidney or ureter

Renal tubular function disorders

Nephrogenic diabetes insipidus

Orphanet: ⁵⁸

Rare renal diseases

External Ids:

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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...

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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:

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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

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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

Lithium carbonate

Approved

Phase 4

554-13-2

Amiloride

Approved

Phase 4

17440-83-4, 2016-88-8, 2609-46-3

16231

Sodium Channel Blockers

Phase 4

Diuretics, Potassium Sparing

Phase 4

diuretics

Phase 4

Atorvastatin

Approved

Phase 2

134523-00-5

60823

Tolvaptan

Approved

Phase 2

150683-30-0

216237

Antimetabolites

Phase 2

Hypolipidemic Agents

Phase 2

Anticholesteremic Agents

Phase 2

Hydroxymethylglutaryl-CoA Reductase Inhibitors

Phase 2

Lipid Regulating Agents

Phase 2

Metformin

Approved

Phase 1

1115-70-4, 657-24-9

4091

Arginine Vasopressin

Phase 1

Hypoglycemic Agents

Phase 1

Indomethacin

Approved, Investigational

53-86-1

3715

Sodium citrate

Approved, Investigational

68-04-2

23431961

Hydrochlorothiazide

Approved, Vet_approved

58-93-5

3639

Sildenafil

Approved, Investigational

139755-83-2, 171599-83-0

5212 135398744

Salmon calcitonin

Approved, Investigational

47931-85-1

155817456

Chlorothiazide

Approved, Vet_approved

58-94-6

2720

Sevoflurane

Approved, Vet_approved

28523-86-6

5206

Citric acid

Approved, Nutraceutical, Vet_approved

77-92-9

311

Arginine

Approved, Investigational, Nutraceutical

74-79-3

6322

Calcitonin gene-related peptide

Investigational

83652-28-2

91976570

Antirheumatic Agents

Amiloride, hydrochlorothiazide drug combination

Hormones

Calcitonin

Antihypertensive Agents

Phosphodiesterase Inhibitors

Phosphodiesterase 5 Inhibitors

Cyclooxygenase Inhibitors

Vasodilator Agents

Calcium, Dietary

Anti-Inflammatory Agents, Non-Steroidal

Sodium Chloride Symporter Inhibitors

Anti-Inflammatory Agents

Analgesics, Non-Narcotic

Analgesics

Citrate

Katacalcin

16172926

Tocolytic Agents

Platelet Aggregation Inhibitors

Anesthetics, Inhalation

Anesthetics, General

Anesthetics

Vasopressins

Vasoconstrictor Agents

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

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Genetic Tests for Nephrogenic Diabetes Insipidus

Genetic tests related to Nephrogenic Diabetes Insipidus:

#	Genetic test	Affiliating Genes
1	Nephrogenic Diabetes Insipidus ²⁸

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Anatomical Context for Nephrogenic Diabetes Insipidus

Organs/tissues related to Nephrogenic Diabetes Insipidus:

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

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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	Faerch M...Corydon TJ	19812297	2009
2	AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance. ⁵³ ⁶² ⁵	Spanakis E...Gragnoli C	18726898	2008
3	Rescue of a nephrogenic diabetes insipidus-causing vasopressin V2 receptor mutant by cell-penetrating peptides. ⁵³ ⁶² ⁵	Oueslati M...Schulein R	17491025	2007
4	A case of nephrogenic diabetes insipidus with a novel missense mutation in the AVPR2 gene. ⁵³ ⁶² ⁵	Ashida A...Tamai H	17216256	2007
5	Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus. ⁵³ ⁶² ⁵	de Mattia F...Deen PM	16120822	2005
6	Nephrogenic diabetes insipidus caused by mutation of Tyr205: a key residue of V2 vasopressin receptor function. ⁵³ ⁶² ⁵	Sangkuhl K...Schoneberg T	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	Hendriks G...van der Sluijs P	14593099	2004
8	Importance of aquaporin-2 expression levels in genotype -phenotype studies in nephrogenic diabetes insipidus. ⁵³ ⁶² ⁵	Kamsteeg EJ...Deen PM	10997928	2000
9	Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus. ⁵³ ⁶² ⁵	Arthus MF...Fujiwara TM	10820168	2000
10	Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants. ⁵³ ⁶² ⁵	Morello JP...Bouvier M	10749568	2000
11	Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families. ⁵³ ⁶² ⁵	Pasel K...Schoneberg T	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	Ala Y...Jard S	9773787	1998
13	Mutations in the vasopressin V2 receptor and aquaporin-2 genes in twelve families with congenital nephrogenic diabetes insipidus. ⁵³ ⁶² ⁵	Vargas-Poussou R...Antignac C	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	Shoji Y...Takada G	9452109	1998
15	Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus. ⁵³ ⁶² ⁵	Vargas-Poussou R...Antignac C	9402087	1997
16	Defects in G protein-coupled signal transduction in human disease. ⁵³ ⁶² ⁵	Spiegel AM	8815789	1996
17	Molecular biology of diabetes insipidus. ⁵³ ⁶² ⁵	Fujiwara TM...Bichet DG	7541187	1995
18	Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. ⁵³ ⁶² ⁵	Bichet DG...Simonetti S	8037205	1994
19	Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus. ⁵³ ⁶² ⁵	Wildin RS...Scott CR	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	Holtzman EJ...Ausiello DA	8401502	1993
21	Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. ⁵³ ⁶² ⁵	van den Ouweland AM...van Oost BA	1303271	1992
22	Biased agonist pharmacochaperones of the AVP V2 receptor may treat congenital nephrogenic diabetes insipidus. ⁶² ⁵	Jean-Alphonse F...Mendre C	19729439	2009
23	Congenital nephrogenic diabetes insipidus presented with bilateral hydronephrosis: genetic analysis of V2R gene mutations. ⁶² ⁵	Yoo TH...Kang SW	16502494	2006
24	Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidus. ⁶² ⁵	Bernier V...Bichet DG	16319185	2006
25	Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus. ⁶² ⁵	Cheong HI...Choi Y	16361827	2005
26	Disease-causing V(2) vasopressin receptors are retained in different compartments of the early secretory pathway. ⁶² ⁵	Hermosilla R...Schulein R	15522100	2004
27	Nephrogenic diabetes insipidus. ⁶² ⁵	Deen PM...van Balkom BW	11128419	2000
28	Vasopressin receptor mutations and nephrogenic diabetes insipidus. ⁶² ⁵	Birnbaumer M	10714359	1999
29	Molecular analysis of X-linked nephrogenic diabetes insipidus. ⁶² ⁵	Fujiwara TM...Bichet DG	8766931	1996
30	A low-affinity vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus. ⁶² ⁵	Yokoyama K...Ueda N	8704106	1996
31	Molecular characterization of nephrogenic diabetes insipidus. ⁶² ⁵	Knoers NV	18407239	1994
32	Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus. ⁶² ⁵	Faa V...Rosatelli MC	7833930	1994
33	Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus. ⁶² ⁵	Knoers NV...van Oost BA	7933835	1994
34	Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. ⁶² ⁵	Pan Y...Gitschier J	1303257	1992
35	Genetic variation in human aquaporins and effects on phenotypes of water homeostasis. ⁵	Sorani MD...Giacomini KM	18470935	2008
36	Protein-misfolding diseases and chaperone-based therapeutic approaches. ⁵	Chaudhuri TK...Paul S	16689923	2006
37	The subcellular localization of an aquaporin-2 tetramer depends on the stoichiometry of phosphorylated and nonphosphorylated monomers. ⁵	Kamsteeg EJ...Deen PM	11076974	2000
38	Localization of G-protein-coupled receptors in health and disease. ⁵	Edwards SW...Limbird LE	10918636	2000
39	Consequences of aquaporin 2 tetramerization for genetics and routing. ⁵	Kamsteeg EJ...van Os C	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	Abaci A...Kopp P	19703807	2010
41	Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families. ⁵³ ⁶²	Sahakitrungruang T...Miller WL	20389105	2010
42	Effect of the cGMP pathway on AQP2 expression and translocation: potential implications for nephrogenic diabetes insipidus. ⁵³ ⁶²	Boone M...Deen PM	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	Savelkoul PJ...Deen PM	19585583	2009
44	Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus. ⁵³ ⁶²	Kamsteeg EJ...Deen PM	19701945	2009
45	Identification, characterization and rescue of a novel vasopressin-2 receptor mutation causing nephrogenic diabetes insipidus. ⁵³ ⁶²	Ranadive SA...Vaisse C	19170711	2009
46	Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype. ⁵³ ⁶²	Guyon C...Bichet DG	19458121	2009
47	Intracellular activation of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus by nonpeptide agonists. ⁵³ ⁶²	Robben JH...Deen PM	19587238	2009
48	Wilms tumor arising in a child with X-linked nephrogenic diabetes insipidus. ⁵³ ⁶²	El-Kares R...Goodyer P	19294427	2009
49	Aquaporins: translating bench research to human disease. ⁵³ ⁶²	Verkman AS	19448080	2009
50	Hsp90 inhibitor partially corrects nephrogenic diabetes insipidus in a conditional knock-in mouse model of aquaporin-2 mutation. ⁵³ ⁶²	Yang B...Verkman AS	18854434	2009

Sources

Genes for Nephrogenic Diabetes Insipidus

Genes related to Nephrogenic Diabetes Insipidus (3 elite genes):

(show all 43)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	AVPR2	Arginine Vasopressin Receptor 2	Protein Coding	827.44	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Gene name Summaries (show sections)	1303257 1303271 7833930 (more) 7913579 8401502 8704106 8766931 9402087 9452109 9773787 10026829 10770218 10820168 11128419 15522100 15841479 17216256 17491025 18726898 7541187 7933835 8037205 8815789 10714359 10749568 10918636 16319185 16502494 16689923 18407239 19729439 19812297 20301356 11754100 19703807 9711877 11389590 8863826 16006591 8929875 11026555 9853256 9019668 7939338 12509923 1324225 17371330 15129813 19449677 10820167 16926443 7922203 10477431 14998935 1357965 1534150 18489790 17550212 9579101 9251762 17101063 15166253 12414899 10425039 18519086 17458180 11857925 17318848 19587238 16093448 17081961 16121255 11916004 11145096 11095010 9171234 9027323 19294427 17261972 17516711 7607658 19170711 18048502 17941907 9127330 20389105 17115194 17020465 15163343 11920339 9756088 9302264 7527400 11476731 8882880 8793791 18553546 17954951 9822112 11181969
2	AQP2	Aquaporin 2	Protein Coding	816.71	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Summaries (show sections)	16120822 11076974 11143979 (more) 10997928 14593099 16361827 18470935 20301356 18519086 17009073 20142913 9797845 9745427 17192724 10191086 7537863 11929850 11297561 16121255 11374071 19701945 12819016 11035038 11001488 10228154 14662748 9048343 10574954 10667046 8730418 8882880 16749243 10213793 9757370 9593782 7541187 19585583 15504936 11773613 11401515 18519087 14519593 12676734 11330571 10073616 9550615 9193450 7537761 19096775 18473191 18854434 18790812 17565277 16150901 15539762 15252040 18216147 11857925 11853799 9165602 9019668 19294427 15100362 11145096 16749244 15509592 14767016 12897058 9756088 19666909 17550212 9822111 9321919 8743482 19458121 18829713 16630534 11320486 8793791 17954951 12191971 15922355
3	AQP5-AS1	AQP5 And AQP2 Antisense RNA 2	RNA Gene	425	Pathogenic ⁵ Likely pathogenic ⁵	16120822 11076974 11143979 (more) 10997928 14593099 16361827 18470935
4	ARHGAP4	Rho GTPase Activating Protein 4	Protein Coding	35.63	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Summaries (show sections)	11754100 18489790 10425039
5	MIP	Major Intrinsic Protein Of Lens Fiber	Protein Coding	25.02	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	19448080 8717630
6	AVP	Arginine Vasopressin	Protein Coding	24.46	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	17941907 7541187 16093448
7	SLC12A1	Solute Carrier Family 12 Member 1	Protein Coding	24.27	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	18216147
8	L1CAM	L1 Cell Adhesion Molecule	Protein Coding	19.82	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	18553546 8323561 17318848
9	CASR	Calcium Sensing Receptor	Protein Coding	18.25	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	8815789
10	AQP1	Aquaporin 1 (Colton Blood Group)	Protein Coding	16.83	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8793791
11	AQP3	Aquaporin 3 (Gill Blood Group)	Protein Coding	14.83	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
12	CLCNKA	Chloride Voltage-Gated Channel Ka	Protein Coding	14.33	DISEASES inferred ¹⁴ GeneCards inferred via : Functions (show sections)
13	AQP4	Aquaporin 4	Protein Coding	14.21	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
14	BSND	Barttin CLCNK Type Accessory Subunit Beta	Protein Coding	13.7	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
15	CFAP47	Cilia And Flagella Associated Protein 47	Protein Coding	13.26	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
16	OXTR	Oxytocin Receptor	Protein Coding	12.69	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
17	CANX	Calnexin	Protein Coding	12.53	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
18	ARHGAP1	Rho GTPase Activating Protein 1	Protein Coding	11.71	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
19	LNPEP	Leucyl And Cystinyl Aminopeptidase	Protein Coding	10.46	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9201003
20	OXT	Oxytocin/Neurophysin I Prepropeptide	Protein Coding	8.61	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8734452 15280526
21	MRGPRX1	MAS Related GPR Family Member X1	Protein Coding	7.39	GeneCards inferred via : Publications (show sections)
22	NPPA	Natriuretic Peptide A	Protein Coding	7.39	GeneCards inferred via : Publications (show sections)
23	AQP6	Aquaporin 6	Protein Coding	7.19	DISEASES inferred ¹⁴
24	AQP7	Aquaporin 7	Protein Coding	6.92	DISEASES inferred ¹⁴
25	AQP11	Aquaporin 11	Protein Coding	6.72	DISEASES inferred ¹⁴
26	AQP10	Aquaporin 10	Protein Coding	6.72	DISEASES inferred ¹⁴
27	AQP8	Aquaporin 8	Protein Coding	6.6	DISEASES inferred ¹⁴
28	AQP5	Aquaporin 5	Protein Coding	6.52	DISEASES inferred ¹⁴
29	KCNJ1	Potassium Inwardly Rectifying Channel Subfamily J Member 1	Protein Coding	6.5	DISEASES inferred ¹⁴
30	AQP12A	Aquaporin 12A	Protein Coding	6.41	DISEASES inferred ¹⁴
31	SLC12A3	Solute Carrier Family 12 Member 3	Protein Coding	6.29	DISEASES inferred ¹⁴
32	RHO	Rhodopsin	Protein Coding	6.19	DISEASES inferred ¹⁴
33	AVPR1A	Arginine Vasopressin Receptor 1A	Protein Coding	5.9	DISEASES inferred ¹⁴
34	AVPR1B	Arginine Vasopressin Receptor 1B	Protein Coding	5.89	DISEASES inferred ¹⁴
35	CLCNKB	Chloride Voltage-Gated Channel Kb	Protein Coding	5.84	DISEASES inferred ¹⁴
36	GNRHR	Gonadotropin Releasing Hormone Receptor	Protein Coding	5.83	DISEASES inferred ¹⁴
37	SAG	S-Antigen Visual Arrestin	Protein Coding	5.83	DISEASES inferred ¹⁴
38	MIR939	MicroRNA 939	RNA Gene	5.81	DISEASES inferred ¹⁴ ¹⁴
39	ADCY6	Adenylate Cyclase 6	Protein Coding	5.81	DISEASES inferred ¹⁴
40	REN	Renin	Protein Coding	5.73	DISEASES inferred ¹⁴
41	PTH	Parathyroid Hormone	Protein Coding	5.68	DISEASES inferred ¹⁴
42	OXER1	Oxoeicosanoid Receptor 1	Protein Coding	5.55	Novoseek inferred ⁵³	15556674
43	CFTR	CF Transmembrane Conductance Regulator	Protein Coding	5.51	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Nephrogenic Diabetes Insipidus

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

Sources

Pathways for Nephrogenic Diabetes Insipidus

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

#	Super pathways	Score	Top Affiliating Genes
1	Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁶ Show member pathways Amino acid transport across the plasma membrane ⁶⁶ Bicarbonate transporters ⁶⁶ Cation-coupled Chloride cotransporters ⁶⁶ Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN) ⁶⁶ Defective SLC12A1 causes Bartter syndrome 1 (BS1) ⁶⁶ Defective SLC12A3 causes Gitelman syndrome (GS) ⁶⁶ Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) ⁶⁶ Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT) ⁶⁶ Defective SLC17A5 causes Salla disease (SD) and ISSD ⁶⁶ Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25) ⁶⁶ Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1) ⁶⁶ Defective SLC22A12 causes renal hypouricemia 1 (RHUC1) ⁶⁶ Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1) ⁶⁶ Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP) ⁶⁶ Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI) ⁶⁶ Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) ⁶⁶ Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1) ⁶⁶ Defective SLC26A4 causes Pendred syndrome (PDS) ⁶⁶ Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1) ⁶⁶ Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) ⁶⁶ Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG) ⁶⁶ Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) ⁶⁶ Defective SLC6A5 causes hyperekplexia 3 (HKPX3) ⁶⁶ Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH) ⁶⁶ Defective SLC9A9 causes autism 16 (AUTS16) ⁶⁶ Inositol transporters ⁶⁶ Multifunctional anion exchangers ⁶⁶ Na+/Cl- dependent neurotransmitter transporters ⁶⁶ Organic anion transport ⁶⁶ Organic anion transporters ⁶⁶ Organic cation transport ⁶⁶ Organic cation/anion/zwitterion transport ⁶⁶ Proton/oligopeptide cotransporters ⁶⁶ Proton-coupled monocarboxylate transport ⁶⁶ Proton-coupled neutral amino acid transporters ⁶⁶ Rhesus glycoproteins mediate ammonium transport. ⁶⁶ SLC-mediated transmembrane transport ⁶⁶ Sodium/Calcium exchangers ⁶⁶ Sodium/Proton exchangers ⁶⁶ Sodium-coupled phosphate cotransporters ⁶⁶ Sodium-coupled sulphate, di- and tri-carboxylate transporters ⁶⁶ Transport of bile salts and organic acids, metal ions and amine compounds ⁶⁶ Transport of small molecules ⁶⁶ Type II Na+/Pi cotransporters ⁶⁶ Variant SLC6A14 may confer susceptibility towards obesity ⁶⁶	12.99	SLC12A1 MIP CLCNKA BSND AVPR2 AVP
2	Aquaporin-mediated transport ⁶⁶ Show member pathways Passive transport by Aquaporins ⁶⁶ Transport of glycerol from adipocytes to the liver by Aquaporins ⁶⁶ Vasopressin regulates renal water homeostasis via Aquaporins ⁶⁶	11.21	MIP AVPR2 AVP AQP4 AQP3 AQP2
3	Diuretics Pathway, Pharmacodynamics ⁶⁰	10.9	SLC12A1 CLCNKA BSND
4	Vasopressin-like receptors ⁶⁶ Show member pathways Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI) ⁶⁶ Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI) ⁶⁶	10.3	OXTR OXT AVPR2 AVP

Sources

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