NSIAD
MCID: NPH013
MIFTS: 32

Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD)

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Nephrogenic Syndrome of Inappropriate Antidiuresis

MalaCards integrated aliases for Nephrogenic Syndrome of Inappropriate Antidiuresis:

Name: Nephrogenic Syndrome of Inappropriate Antidiuresis 58 60 76 38 30 13 6 41 74
Nsiad 58 60 76

Characteristics:

Orphanet epidemiological data:

60
nephrogenic syndrome of inappropriate antidiuresis
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
x-linked recessive

Miscellaneous:
onset within first 3 months of life
normal neonatal course
caused by constitutive activation of the avpr2 receptor


HPO:

33
nephrogenic syndrome of inappropriate antidiuresis:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 60  
Rare renal diseases


External Ids:

OMIM 58 300539
KEGG 38 H01294
ICD10 via Orphanet 35 E22.2
UMLS via Orphanet 75 C1845202
Orphanet 60 ORPHA93606
MedGen 43 C1845202
UMLS 74 C1845202

Summaries for Nephrogenic Syndrome of Inappropriate Antidiuresis

OMIM : 58 The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a common cause of hyponatremia. The syndrome manifests as an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolality, and natriuresis. SIADH occurs in a setting of normal blood volume, without evidence of renal disease or deficiency of thyroxine or cortisol. Although usually transient, SIADH may be chronic; it is often associated with drug use or a lesion in the central nervous system or lung. When the cardinal features of SIADH were defined by Bartter and Schwartz (1967), levels of AVP could not be measured. Subsequently, radioimmunoassays revealed that SIADH is usually associated with measurably elevated serum levels of AVP. Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is characterized by a clinical picture similar to SIADH, but is associated with undetectable levels of AVP (Feldman et al., 2005). (300539)

MalaCards based summary : Nephrogenic Syndrome of Inappropriate Antidiuresis, also known as nsiad, is related to diabetes insipidus and diabetes insipidus, nephrogenic, autosomal, and has symptoms including seizures An important gene associated with Nephrogenic Syndrome of Inappropriate Antidiuresis is AVPR2 (Arginine Vasopressin Receptor 2), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Vasopressin-regulated water reabsorption. Affiliated tissues include lung, and related phenotypes are seizures and irritability

UniProtKB/Swiss-Prot : 76 Nephrogenic syndrome of inappropriate antidiuresis: Characterized by an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolarity, and natriuresis.

Related Diseases for Nephrogenic Syndrome of Inappropriate Antidiuresis

Diseases related to Nephrogenic Syndrome of Inappropriate Antidiuresis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 diabetes insipidus 29.9 AVP AVPR2
2 diabetes insipidus, nephrogenic, autosomal 29.7 AVP AVPR2
3 inappropriate adh syndrome 9.8 AVP AVPR2
4 impaired renal function disease 9.8 AVP AVPR2
5 syndrome of inappropriate antidiuretic hormone 9.7 AVP AVPR2
6 diabetes insipidus, neurohypophyseal 9.7 AVP AVPR2
7 autosomal dominant polycystic kidney disease 9.5 AVP AVPR2

Graphical network of the top 20 diseases related to Nephrogenic Syndrome of Inappropriate Antidiuresis:



Diseases related to Nephrogenic Syndrome of Inappropriate Antidiuresis

Symptoms & Phenotypes for Nephrogenic Syndrome of Inappropriate Antidiuresis

Human phenotypes related to Nephrogenic Syndrome of Inappropriate Antidiuresis:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 irritability 33 HP:0000737
3 hyponatremia 33 HP:0002902
4 hypernatriuria 33 HP:0012605
5 decreased circulating renin level 33 HP:0003351
6 decreased serum creatinine 33 HP:0012101
7 elevated systolic blood pressure 33 HP:0004421

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures

Laboratory Abnormalities:
hyponatremia
decreased serum osmolality
inappropriately increased urine osmolality
increased urinary sodium
decreased serum bun
more
Neurologic Behavioral Psychiatric Manifestations:
irritability

Cardiovascular Vascular:
systolic hypertension, mild

Clinical features from OMIM:

300539

UMLS symptoms related to Nephrogenic Syndrome of Inappropriate Antidiuresis:


seizures

Drugs & Therapeutics for Nephrogenic Syndrome of Inappropriate Antidiuresis

Search Clinical Trials , NIH Clinical Center for Nephrogenic Syndrome of Inappropriate Antidiuresis

Genetic Tests for Nephrogenic Syndrome of Inappropriate Antidiuresis

Genetic tests related to Nephrogenic Syndrome of Inappropriate Antidiuresis:

# Genetic test Affiliating Genes
1 Nephrogenic Syndrome of Inappropriate Antidiuresis 30 AVPR2

Anatomical Context for Nephrogenic Syndrome of Inappropriate Antidiuresis

MalaCards organs/tissues related to Nephrogenic Syndrome of Inappropriate Antidiuresis:

42
Lung

Publications for Nephrogenic Syndrome of Inappropriate Antidiuresis

Articles related to Nephrogenic Syndrome of Inappropriate Antidiuresis:

(show all 29)
# Title Authors Year
1
Focus on neonatal and infantile onset of nephrogenic syndrome of inappropriate antidiuresis: 12A years later. ( 29546600 )
2018
2
Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD). ( 29472987 )
2018
3
[Nephrogenic syndrome of inappropriate antidiuresis: Early diagnosis avoids severe hyponatremia complications]. ( 28583780 )
2017
4
A case of nephrogenic syndrome of inappropriate antidiuresis caused by carbamazepine. ( 29282644 )
2017
5
Nephrogenic Syndrome of Inappropriate Antidiuresis in a Female Neonate: Review of the Clinical Presentation in Females. ( 25925274 )
2015
6
Nephrogenic syndrome of inappropriate antidiuresis secondary to an activating mutation in the arginine vasopressin receptor AVPR2. ( 26715131 )
2015
7
Transient nephrogenic syndrome of inappropriate antidiuresis. ( 27293575 )
2013
8
A family with hyponatremia and the nephrogenic syndrome of inappropriate antidiuresis. ( 22154540 )
2012
9
Persistent elevation of urine aquaporin-2 during water loading in a child with nephrogenic syndrome of inappropriate antidiuresis (NSIAD) caused by a R137L mutation in the V2 vasopressin receptor. ( 22325688 )
2012
10
Long-term treatment of hyponatremic patients with nephrogenic syndrome of inappropriate antidiuresis: personal experience and review of published case reports. ( 22722264 )
2012
11
Nephrogenic syndrome of inappropriate antidiuresis. ( 22518188 )
2012
12
Lack of responsiveness to 1-desamino-D arginin vasopressin (desmopressin) in male patients with nephrogenic syndrome of inappropriate antidiuresis: from bench to bedside. ( 21834801 )
2012
13
Identification and characterization of an activating F229V substitution in the V2 vasopressin receptor in an infant with NSIAD. ( 22956819 )
2012
14
Functional characterization of vasopressin type 2 receptor substitutions (R137H/C/L) leading to nephrogenic diabetes insipidus and nephrogenic syndrome of inappropriate antidiuresis: implications for treatments. ( 20159941 )
2010
15
Nephrogenic syndrome of inappropriate antidiuresis. ( 20543212 )
2010
16
Familial nephrogenic syndrome of inappropriate antidiuresis: dissociation between aquaporin-2 and vasopressin excretion. ( 20631022 )
2010
17
Long-term outcomes in a family with nephrogenic syndrome of inappropriate antidiuresis. ( 20148077 )
2009
18
Agonist-independent interactions between beta-arrestins and mutant vasopressin type II receptors associated with nephrogenic syndrome of inappropriate antidiuresis. ( 19179480 )
2009
19
Nephrogenic syndrome of inappropriate antidiuresis: a novel cause of euvolemic hypotonic hyponatremia in newborns. Diagnosis and practical management. ( 19925363 )
2009
20
Thirst perception and arginine vasopressin production in a kindred with an activating mutation of the type 2 vasopressin receptor: the pathophysiology of nephrogenic syndrome of inappropriate antidiuresis. ( 19542240 )
2009
21
The constitutively active V2 receptor mutants conferring NSIAD are weakly sensitive to agonist and antagonist regulation. ( 20027297 )
2009
22
Intermittent severe, symptomatic hyponatraemia due to the nephrogenic syndrome of inappropriate antidiuresis. ( 18753429 )
2008
23
Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis. ( 18622631 )
2008
24
Nephrogenic syndrome of inappropriate antidiuresis in adults: high phenotypic variability in men and women from a large pedigree. ( 17229917 )
2007
25
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD): a paradigm for activating mutations causing endocrine dysfunction. ( 17261972 )
2006
26
Nephrogenic syndrome of inappropriate antidiuresis: a novel disorder in water balance in pediatric patients. ( 16843086 )
2006
27
Nephrogenic syndrome of inappropriate antidiuresis. ( 16079383 )
2005
28
Nephrogenic syndrome of inappropriate antidiuresis. ( 15872203 )
2005
29
Nephrogenic syndrome of inappropriate antidiuresis. ( 16080252 )
2005

Variations for Nephrogenic Syndrome of Inappropriate Antidiuresis

UniProtKB/Swiss-Prot genetic disease variations for Nephrogenic Syndrome of Inappropriate Antidiuresis:

76
# Symbol AA change Variation ID SNP ID
1 AVPR2 p.Arg137Cys VAR_025901 rs104894761
2 AVPR2 p.Arg137Leu VAR_025902 rs104894756

ClinVar genetic disease variations for Nephrogenic Syndrome of Inappropriate Antidiuresis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AVPR2 NM_000054.4(AVPR2): c.409C> T (p.Arg137Cys) single nucleotide variant Pathogenic rs104894761 GRCh37 Chromosome X, 153171369: 153171369
2 AVPR2 NM_000054.4(AVPR2): c.409C> T (p.Arg137Cys) single nucleotide variant Pathogenic rs104894761 GRCh38 Chromosome X, 153905915: 153905915
3 AVPR2 NM_000054.4(AVPR2): c.410G> T (p.Arg137Leu) single nucleotide variant Pathogenic rs104894756 GRCh37 Chromosome X, 153171370: 153171370
4 AVPR2 NM_000054.4(AVPR2): c.410G> T (p.Arg137Leu) single nucleotide variant Pathogenic rs104894756 GRCh38 Chromosome X, 153905916: 153905916
5 AVPR2 NM_000054.5(AVPR2): c.26-6T> G single nucleotide variant Benign/Likely benign rs56689668 GRCh38 Chromosome X, 153905526: 153905526
6 AVPR2 NM_000054.5(AVPR2): c.26-6T> G single nucleotide variant Benign/Likely benign rs56689668 GRCh37 Chromosome X, 153170980: 153170980
7 AVPR2 NM_000054.4(AVPR2): c.797T> C (p.Val266Ala) single nucleotide variant not provided rs111643041 GRCh38 Chromosome X, 153906303: 153906303
8 AVPR2 NM_000054.4(AVPR2): c.797T> C (p.Val266Ala) single nucleotide variant not provided rs111643041 GRCh37 Chromosome X, 153171757: 153171757

Expression for Nephrogenic Syndrome of Inappropriate Antidiuresis

Search GEO for disease gene expression data for Nephrogenic Syndrome of Inappropriate Antidiuresis.

Pathways for Nephrogenic Syndrome of Inappropriate Antidiuresis

Pathways related to Nephrogenic Syndrome of Inappropriate Antidiuresis according to KEGG:

38
# Name Kegg Source Accession
1 Neuroactive ligand-receptor interaction hsa04080
2 Vasopressin-regulated water reabsorption hsa04962

GO Terms for Nephrogenic Syndrome of Inappropriate Antidiuresis

Cellular components related to Nephrogenic Syndrome of Inappropriate Antidiuresis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 clathrin-coated vesicle membrane GO:0030665 8.62 AVP AVPR2

Biological processes related to Nephrogenic Syndrome of Inappropriate Antidiuresis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.37 AVP AVPR2
2 positive regulation of gene expression GO:0010628 9.32 AVP AVPR2
3 membrane organization GO:0061024 9.26 AVP AVPR2
4 renal water homeostasis GO:0003091 9.16 AVP AVPR2
5 positive regulation of vasoconstriction GO:0045907 8.96 AVP AVPR2
6 positive regulation of systemic arterial blood pressure GO:0003084 8.62 AVP AVPR2

Sources for Nephrogenic Syndrome of Inappropriate Antidiuresis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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