MCID: PSD003
MIFTS: 45

Pseudohypoaldosteronism

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Pseudohypoaldosteronism

MalaCards integrated aliases for Pseudohypoaldosteronism:

Name: Pseudohypoaldosteronism 12 75 59 29 55 6 15 72

Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:4479
MeSH 44 D011546
NCIt 50 C85034
SNOMED-CT 68 77098009
UMLS via Orphanet 73 C0033805
Orphanet 59 ORPHA444916
UMLS 72 C0033805

Summaries for Pseudohypoaldosteronism

MalaCards based summary : Pseudohypoaldosteronism is related to pseudohypoaldosteronism, type iia and pseudohypoaldosteronism, type iie. An important gene associated with Pseudohypoaldosteronism is NR3C2 (Nuclear Receptor Subfamily 3 Group C Member 2), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Enalapril and Enalaprilat have been mentioned in the context of this disorder. Affiliated tissues include Kidney, kidney and testes, and related phenotypes are Increased cell death HMECs cells and cardiovascular system

Wikipedia : 75 Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism. However, the condition is... more...

Related Diseases for Pseudohypoaldosteronism

Diseases in the Pseudohypoaldosteronism family:

Pseudohypoaldosteronism, Type Iia Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Recessive Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism, Type Iic Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism, Type Iie Transient Pseudohypoaldosteronism

Diseases related to Pseudohypoaldosteronism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 105)
# Related Disease Score Top Affiliating Genes
1 pseudohypoaldosteronism, type iia 34.3 KLHL3 CUL3
2 pseudohypoaldosteronism, type iie 34.2 KLHL3 CUL3
3 pseudohypoaldosteronism, type i, autosomal recessive 32.8 SCNN1G SCNN1B SCNN1A REN NR3C2
4 pseudohypoaldosteronism, type i, autosomal dominant 32.7 SCNN1G SCNN1B SCNN1A REN NR3C2
5 metabolic acidosis 30.7 WNK4 WNK1 SCNN1G KLHL3
6 arthrogryposis, distal, type 3 30.5 WNK4 WNK1 SLC12A3 REN NR3C2
7 hypertension, essential 30.5 WNK4 WNK1 SLC12A3 REN NR3C2
8 apparent mineralocorticoid excess 30.1 REN NR3C2
9 renal tubular acidosis 30.0 SCNN1G REN NR3C2
10 renal hypertension 29.3 SLC12A3 REN
11 cystic fibrosis 29.2 SCNN1G SCNN1B SCNN1A
12 gitelman syndrome 28.9 SLC12A3 REN KCNJ1
13 bartter disease 28.7 SLC12A3 REN KCNJ1
14 pseudohyperkalemia, familial, 2, due to red cell leak 28.6 WNK4 WNK1 SCNN1G REN NR3C2 KCNJ1
15 familial hypertension 28.4 WNK4 WNK1 REN NR3C2 KLHL3 CUL3
16 hypokalemia 28.3 SLC12A3 REN NR3C2 KCNJ1
17 liddle syndrome 1 28.1 WNK4 SCNN1G SCNN1B SCNN1A REN NR3C2
18 pseudohypoaldosteronism, type iid 12.7
19 pseudohypoaldosteronism, type iib 12.7
20 pseudohypoaldosteronism, type iic 12.7
21 transient pseudohypoaldosteronism 12.3
22 acute cystitis 10.6
23 lipoid congenital adrenal hyperplasia 10.6
24 urinary tract obstruction 10.5
25 pyelonephritis 10.4
26 miliaria rubra 10.4
27 miliaria 10.4
28 hypoadrenalism 10.4
29 hypoaldosteronism 10.4
30 hydronephrosis 10.4
31 vesicoureteral reflux 1 10.3
32 acute pyelonephritis 10.2
33 hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 10.2
34 exanthem 10.2
35 autosomal recessive disease 10.2
36 posterior urethral valves 10.2
37 anuria 10.1 REN NR3C2
38 hyperaldosteronism, familial, type i 10.1 REN NR3C2
39 hyperkalemic periodic paralysis 10.1
40 dowling-degos disease 1 10.1
41 c syndrome 10.1
42 cardiac arrest 10.1
43 cholelithiasis 10.1
44 pyloric stenosis 10.1
45 nephrocalcinosis 10.1
46 thrombocytosis 10.1
47 polyhydramnios 10.1
48 distal renal tubular acidosis 10.1
49 hypotonia 10.1
50 rare renal tubular disease 10.1

Graphical network of the top 20 diseases related to Pseudohypoaldosteronism:



Diseases related to Pseudohypoaldosteronism

Symptoms & Phenotypes for Pseudohypoaldosteronism

GenomeRNAi Phenotypes related to Pseudohypoaldosteronism according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 9.02 CUL3 KLHL3 NR3C2 WNK1 WNK4

MGI Mouse Phenotypes related to Pseudohypoaldosteronism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.97 CUL3 KCNJ1 KLHL3 NR3C2 REN SCNN1B
2 homeostasis/metabolism MP:0005376 9.9 CUL3 KCNJ1 KLHL3 NR3C2 REN SCNN1A
3 growth/size/body region MP:0005378 9.86 CUL3 KCNJ1 NR3C2 REN SCNN1A SCNN1B
4 mortality/aging MP:0010768 9.56 CUL3 KCNJ1 NR3C2 REN SCNN1A SCNN1B
5 renal/urinary system MP:0005367 9.32 KCNJ1 KLHL3 NR3C2 REN SCNN1A SCNN1B

Drugs & Therapeutics for Pseudohypoaldosteronism

Drugs for Pseudohypoaldosteronism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Enalapril Approved, Vet_approved Phase 2 75847-73-3 5362032 40466924
2
Enalaprilat Approved Phase 2 76420-72-9 6917719
3 Antihypertensive Agents Phase 2
4 HIV Protease Inhibitors Phase 2
5
protease inhibitors Phase 2
6 Angiotensin-Converting Enzyme Inhibitors Phase 2
7 Chelating Agents Phase 2
8 Polystyrene sulfonic acid Phase 2
9 Hormones
10 Mineralocorticoids
11 Hormone Antagonists
12 Hormones, Hormone Substitutes, and Hormone Antagonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase II Study of the Pathophysiology and Treatment With Enalapril and Polystyrene Sulfonate for Pseudohypoaldosteronism, Type I Completed NCT00004328 Phase 2 enalapril;polystyrene sulfonate
2 Cardiovascular Evaluation of a Rare Condition With Hyperaldosteronism Without Hypertension: PHA 1 Completed NCT00646828
3 Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests Completed NCT00323167
4 Genetic Disorders of Mucociliary Clearance Completed NCT00368446
5 Cross-Sectional Characterization of Idiopathic Bronchiectasis Completed NCT01264055

Search NIH Clinical Center for Pseudohypoaldosteronism

Genetic Tests for Pseudohypoaldosteronism

Genetic tests related to Pseudohypoaldosteronism:

# Genetic test Affiliating Genes
1 Pseudohypoaldosteronism 29

Anatomical Context for Pseudohypoaldosteronism

MalaCards organs/tissues related to Pseudohypoaldosteronism:

41
Kidney, Testes, Skin, Colon, Lung, Bone, Bone Marrow
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Pseudohypoaldosteronism:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Distal Tubule Distal Tubule Cells Affected by disease

Publications for Pseudohypoaldosteronism

Articles related to Pseudohypoaldosteronism:

(show top 50) (show all 651)
# Title Authors PMID Year
1
Truncated beta epithelial sodium channel (ENaC) subunits responsible for multi-system pseudohypoaldosteronism support partial activity of ENaC. 9 38
20064610 2010
2
Pseudohypoaldosteronism type 1 due to a novel mutation in the mineralocorticoid receptor gene. 9 38
20453518 2010
3
WNK kinases and blood pressure control. 9 38
19895753 2009
4
Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene. 9 38
19912655 2009
5
Distal potassium handling based on flow modulation of maxi-K channel activity. 9 38
19448535 2009
6
Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel. 9 38
18547339 2009
7
A novel nonsense mutation of the mineralocorticoid receptor gene in the renal form of pseudohypoaldosteronism type 1. 9 38
19344080 2009
8
WNK3 and WNK4 amino-terminal domain defines their effect on the renal Na+-Cl- cotransporter. 9 38
18701621 2008
9
Silencing of the mineralocorticoid receptor by ribonucleic acid interference in transgenic rats disrupts endocrine homeostasis. 9 38
18337591 2008
10
A patient with pseudohypoaldosteronism type II caused by a novel mutation in WNK4 gene. 9 38
19016006 2008
11
Increased urinary Na-Cl cotransporter protein in familial hyperkalaemia and hypertension. 9 38
17951312 2008
12
A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism. 9 38
17401586 2007
13
[Mineralocorticoid resistance: pseudohypoaldosteronism type 1]. 9 38
17546235 2007
14
Intersectin links WNK kinases to endocytosis of ROMK1. 9 38
17380208 2007
15
An SGK1 site in WNK4 regulates Na+ channel and K+ channel activity and has implications for aldosterone signaling and K+ homeostasis. 9 38
17360471 2007
16
Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1. 9 38
17287415 2007
17
Exclusion of serum- and glucocorticoid-induced kinase 1 (SGK1) as a candidate gene for genetically heterogeneous renal pseudohypoaldosteronism type I in eight families. 9 38
17317952 2007
18
Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. 9 38
16972228 2007
19
Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. 9 38
16954160 2006
20
Overexpression of human WNK1 increases paracellular chloride permeability and phosphorylation of claudin-4 in MDCKII cells. 9 38
16949040 2006
21
Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene. 9 38
16757525 2006
22
WNK1 affects surface expression of the ROMK potassium channel independent of WNK4. 9 38
16775035 2006
23
Protein kinase WNK3 increases cell survival in a caspase-3-dependent pathway. 9 38
16501604 2006
24
WNK1 kinase isoform switch regulates renal potassium excretion. 9 38
16709664 2006
25
WNK1 regulates phosphorylation of cation-chloride-coupled cotransporters via the STE20-related kinases, SPAK and OSR1. 9 38
16263722 2005
26
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. 9 38
16207733 2005
27
Association of WNK1 gene polymorphisms and haplotypes with ambulatory blood pressure in the general population. 9 38
16301342 2005
28
WNK lies upstream of kinases involved in regulation of ion transporters. 9 38
16173916 2005
29
WNK1 activates SGK1 by a phosphatidylinositol 3-kinase-dependent and non-catalytic mechanism. 9 38
16081417 2005
30
A new kindred with pseudohypoaldosteronism type II and a novel mutation (564D>H) in the acidic motif of the WNK4 gene. 9 38
15998707 2005
31
WNK1 activates SGK1 to regulate the epithelial sodium channel. 9 38
16006511 2005
32
Properties of WNK1 and implications for other family members. 9 38
15883153 2005
33
Regulation of apical localization of the thiazide-sensitive NaCl cotransporter by WNK4 in polarized epithelial cells. 9 38
15796898 2005
34
WNK kinases and the control of blood pressure. 9 38
15866321 2005
35
Normal CFTR Activity and Reversed Skin Potentials in Pseudohypoaldosteronism. 9 38
15986094 2005
36
WNK1: analysis of protein kinase structure, downstream targets, and potential roles in hypertension. 9 38
15686619 2005
37
Pseudohypoaldosteronism type 1 and the genes encoding prostasin, alpha-spectrin, and Nedd4. 9 38
15547682 2004
38
WNK kinases: molecular regulators of integrated epithelial ion transport. 9 38
15300163 2004
39
Hypercalciuria in familial hyperkalemia and hypertension accompanies hyperkalemia and precedes hypertension: description of a large family with the Q565E WNK4 mutation. 9 38
15292344 2004
40
Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene. 9 38
15126534 2004
41
Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism. 9 38
15134810 2004
42
WNK1, the kinase mutated in an inherited high-blood-pressure syndrome, is a novel PKB (protein kinase B)/Akt substrate. 9 38
14611643 2004
43
Identification of 108 SNPs in TSC, WNK1, and WNK4 and their association with hypertension in a Japanese general population. 9 38
15309683 2004
44
A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1). 9 38
14715854 2004
45
Multiple promoters in the WNK1 gene: one controls expression of a kidney-specific kinase-defective isoform. 9 38
14645531 2003
46
Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. 9 38
14610273 2003
47
Mendelian hypertension with brachydactyly as a molecular genetic lesson in regulatory physiology. 9 38
12959913 2003
48
Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. 9 38
12788847 2003
49
Genetic variants of WNK4 in whites and African Americans with hypertension. 9 38
12719438 2003
50
[Monogenic hypertension]. 9 38
12715144 2003

Variations for Pseudohypoaldosteronism

ClinVar genetic disease variations for Pseudohypoaldosteronism:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NR3C2 NM_000901.5(NR3C2): c.1409C> A (p.Ser470Ter) single nucleotide variant Pathogenic rs879255348 4:149356604-149356604 4:148435452-148435452

Expression for Pseudohypoaldosteronism

Search GEO for disease gene expression data for Pseudohypoaldosteronism.

Pathways for Pseudohypoaldosteronism

Pathways related to Pseudohypoaldosteronism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 WNK4 WNK1 SLC12A3 SCNN1G SCNN1B SCNN1A
2
Show member pathways
12.3 SLC12A3 SCNN1G SCNN1B SCNN1A
3
Show member pathways
12.15 WNK4 WNK1 SCNN1G SCNN1B SCNN1A
4
Show member pathways
11.7 SCNN1G SCNN1B SCNN1A
5 11.04 SCNN1G SCNN1B SCNN1A
6 10.92 SCNN1G SCNN1B SCNN1A NR3C2 KCNJ1
7 10.63 WNK4 WNK1 SLC12A3 SCNN1G SCNN1B SCNN1A
8 10.45 SCNN1G SCNN1B SCNN1A

GO Terms for Pseudohypoaldosteronism

Cellular components related to Pseudohypoaldosteronism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.85 WNK4 WNK1 SLC12A3 SCNN1G SCNN1B SCNN1A
2 Cul3-RING ubiquitin ligase complex GO:0031463 9.26 KLHL3 CUL3
3 apical plasma membrane GO:0016324 9.26 SLC12A3 SCNN1G SCNN1B SCNN1A
4 sodium channel complex GO:0034706 8.8 SCNN1G SCNN1B SCNN1A

Biological processes related to Pseudohypoaldosteronism according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 sodium ion transport GO:0006814 9.67 SLC12A3 SCNN1G SCNN1B SCNN1A
2 sensory perception of taste GO:0050909 9.65 SCNN1G SCNN1B SCNN1A
3 excretion GO:0007588 9.63 SCNN1G SCNN1B KCNJ1
4 sodium ion transmembrane transport GO:0035725 9.62 SLC12A3 SCNN1G SCNN1B SCNN1A
5 potassium ion import across plasma membrane GO:1990573 9.57 SLC12A3 KCNJ1
6 positive regulation of sodium ion transmembrane transporter activity GO:2000651 9.56 WNK4 WNK1
7 positive regulation of ion transmembrane transporter activity GO:0032414 9.55 WNK4 WNK1
8 positive regulation of potassium ion import GO:1903288 9.54 WNK4 WNK1
9 negative regulation of sodium ion transport GO:0010766 9.52 WNK4 WNK1
10 negative regulation of pancreatic juice secretion GO:0090188 9.51 WNK4 WNK1
11 renal sodium ion absorption GO:0070294 9.49 WNK4 KLHL3
12 regulation of cellular process GO:0050794 9.43 WNK4 WNK1
13 sodium ion homeostasis GO:0055078 9.43 SCNN1G SCNN1B SCNN1A
14 distal tubule morphogenesis GO:0072156 9.4 WNK4 KLHL3
15 ion homeostasis GO:0050801 9.33 WNK4 WNK1 KLHL3
16 ion transport GO:0006811 9.17 WNK4 WNK1 SLC12A3 SCNN1G SCNN1B SCNN1A
17 multicellular organismal water homeostasis GO:0050891 9.13 SCNN1G SCNN1B SCNN1A

Molecular functions related to Pseudohypoaldosteronism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sodium channel activity GO:0005272 9.32 SCNN1G SCNN1A
2 chloride channel inhibitor activity GO:0019869 9.26 WNK4 WNK1
3 potassium channel inhibitor activity GO:0019870 9.16 WNK4 WNK1
4 WW domain binding GO:0050699 9.13 SCNN1G SCNN1B SCNN1A
5 ligand-gated sodium channel activity GO:0015280 8.8 SCNN1G SCNN1B SCNN1A

Sources for Pseudohypoaldosteronism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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