MCID: HRD221
MIFTS: 17

Hereditary Nephrogenic Diabetes Insipidus

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

Aliases & Classifications for Hereditary Nephrogenic Diabetes Insipidus

MalaCards integrated aliases for Hereditary Nephrogenic Diabetes Insipidus:

Name: Hereditary Nephrogenic Diabetes Insipidus 24

Classifications:



Summaries for Hereditary Nephrogenic Diabetes Insipidus

MalaCards based summary : Hereditary Nephrogenic Diabetes Insipidus is related to diabetes insipidus, nephrogenic, autosomal and diabetes insipidus. An important gene associated with Hereditary Nephrogenic Diabetes Insipidus is AVPR2 (Arginine Vasopressin Receptor 2), and among its related pathways/superpathways are Aquaporin-mediated transport and Vasopressin-regulated water reabsorption. Affiliated tissues include kidney, testes and pituitary.

GeneReviews: NBK1177

Related Diseases for Hereditary Nephrogenic Diabetes Insipidus

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



Diseases related to Hereditary Nephrogenic Diabetes Insipidus

Symptoms & Phenotypes for Hereditary Nephrogenic Diabetes Insipidus

Drugs & Therapeutics for Hereditary Nephrogenic Diabetes Insipidus

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

Genetic Tests for Hereditary Nephrogenic Diabetes Insipidus

Anatomical Context for Hereditary Nephrogenic Diabetes Insipidus

MalaCards organs/tissues related to Hereditary Nephrogenic Diabetes Insipidus:

40
Kidney, Testes, Pituitary

Publications for Hereditary Nephrogenic Diabetes Insipidus

Articles related to Hereditary Nephrogenic Diabetes Insipidus:

(show top 50) (show all 107)
# Title Authors PMID Year
1
New insights into the transcriptional regulation of aquaporin-2 and the treatment of X-linked hereditary nephrogenic diabetes insipidus. 61 24
31189221 2019
2
Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update. 24 61
29125546 2017
3
Vasopressin-independent targeting of aquaporin-2 by selective E-prostanoid receptor agonists alleviates nephrogenic diabetes insipidus. 24 61
21768374 2011
4
Evaluation of pharmacochaperone-mediated rescue of mutant V2 receptor proteins. 24
31738937 2019
5
Nephrogenic diabetes insipidus in a 15-year-old Hispanic female with a novel AQP2 mutation. 24
31348762 2019
6
Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report. 24
30784238 2019
7
Long-term outcome in inherited nephrogenic diabetes insipidus. 24
30976394 2019
8
Nephrogenic Diabetes Insipidus. 24
30454745 2019
9
Polyuria-polydipsia syndrome: a diagnostic challenge. 24
28967192 2018
10
Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations. 24
30073107 2018
11
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
12
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 24
28349240 2017
13
Nephrogenic diabetes insipidus. 24
28134709 2017
14
Analysis of the V2 Vasopressin Receptor (V2R) Mutations Causing Partial Nephrogenic Diabetes Insipidus Highlights a Sustainable Signaling by a Non-peptide V2R Agonist. 24
27601473 2016
15
Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family. 24
26974133 2016
16
A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers. 24
26795631 2016
17
Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant). 24
27156763 2016
18
Timing, rates and spectra of human germline mutation. 24
26656846 2016
19
Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus. 24
26077742 2015
20
Diagnostic Accuracy of Copeptin in the Differential Diagnosis of the Polyuria-polydipsia Syndrome: A Prospective Multicenter Study. 24
25768671 2015
21
Congenital nephrogenic diabetes insipidus: the current state of affairs. 24
22427315 2012
22
Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature. 24
22386940 2012
23
V2 vasopressin receptor (V2R) mutations in partial nephrogenic diabetes insipidus highlight protean agonism of V2R antagonists. 24
22144672 2012
24
Prenatal presentation of transient central diabetes insipidus. 24
21072537 2011
25
A de novo novel missense mutation in AVPR2 with severe nephrogenic diabetes insipidus. 24
25949462 2010
26
Vasopressin type 2 receptor V88M mutation: molecular basis of partial and complete nephrogenic diabetes insipidus. 24
19816050 2010
27
Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus. 24
19812297 2009
28
A selective EP4 PGE2 receptor agonist alleviates disease in a new mouse model of X-linked nephrogenic diabetes insipidus. 24
19729836 2009
29
Intracellular activation of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus by nonpeptide agonists. 24
19587238 2009
30
Novel mutation of aquaporin-2 gene in a patient with congenital nephrogenic diabetes insipidus. 24
19461158 2009
31
Identification of two novel aquaporin-2 mutations in a Thai girl with congenital nephrogenic diabetes insipidus. 24
18473191 2008
32
Functional rescue of vasopressin V2 receptor mutants in MDCK cells by pharmacochaperones: relevance to therapy of nephrogenic diabetes insipidus. 24
16926443 2007
33
Characterization of two novel missense mutations in the AQP2 gene causing nephrogenic diabetes insipidus. 24
17192724 2007
34
Pathogenesis and treatment of autosomal-dominant nephrogenic diabetes insipidus caused by an aquaporin 2 mutation. 24
16968783 2006
35
Congenital nephrogenic diabetes insipidus presented with bilateral hydronephrosis: genetic analysis of V2R gene mutations. 24
16502494 2006
36
Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidus. 24
16319185 2006
37
Rescue of vasopressin V2 receptor mutants by chemical chaperones: specificity and mechanism. 24
16267275 2006
38
Efficacy of COX-2 inhibitors in a case of congenital nephrogenic diabetes insipidus. 24
16240160 2005
39
Molecular biology of hereditary diabetes insipidus. 24
16093448 2005
40
Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus. 24
16120822 2005
41
Characterization of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus in a polarized cell model. 24
16006591 2005
42
The perioperative challenge of nephrogenic diabetes insipidus: a multidisciplinary approach. 24
15861943 2005
43
Causes of reversible nephrogenic diabetes insipidus: a systematic review. 24
15806465 2005
44
Functional rescue of the constitutively internalized V2 vasopressin receptor mutant R137H by the pharmacological chaperone action of SR49059. 24
15166253 2004
45
Bladder function impairment in aquaporin-2 defective nephrogenic diabetes insipidus. 24
14767016 2004
46
Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus. 24
14662748 2003
47
Treatment of congenital nephrogenic diabetes insipidus by hydrochlorothiazide and cyclooxygenase-2 inhibitor. 24
12883974 2003
48
Appropriate polarization following pharmacological rescue of V2 vasopressin receptors encoded by X-linked nephrogenic diabetes insipidus alleles involves a conformation of the receptor that also attains mature glycosylation. 24
12824183 2003
49
Two novel aquaporin-2 mutations in a sporadic Japanese patient with autosomal recessive nephrogenic diabetes insipidus. 24
14599123 2003
50
Pathogenesis of nephrogenic diabetes insipidus by aquaporin-2 C-terminus mutations. 24
12787389 2003

Variations for Hereditary Nephrogenic Diabetes Insipidus

Expression for Hereditary Nephrogenic Diabetes Insipidus

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

Pathways for Hereditary Nephrogenic Diabetes Insipidus

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.37 AVPR2 AQP2
2 10.27 AVPR2 AQP2

GO Terms for Hereditary Nephrogenic Diabetes Insipidus

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

# Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 8.62 AVPR2 AQP2

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

# Name GO ID Score Top Affiliating Genes
1 renal water homeostasis GO:0003091 8.62 AVPR2 AQP2

Sources for Hereditary Nephrogenic Diabetes Insipidus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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