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MCID: PSD003
MIFTS: 45

Pseudohypoaldosteronism

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Pseudohypoaldosteronism

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MalaCards integrated aliases for Pseudohypoaldosteronism:

Name: Pseudohypoaldosteronism 12 74 58 29 54 6 15 71

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Nephrological diseases Cardiovascular diseases Endocrine diseases Blood diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:4479
MeSH 43 D011546
NCIt 49 C85034
SNOMED-CT 67 77098009
UMLS via Orphanet 72 C0033805
Orphanet 58 ORPHA444916
UMLS 71 C0033805
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Summaries for Pseudohypoaldosteronism

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MalaCards based summary : Pseudohypoaldosteronism is related to pseudohypoaldosteronism, type iia and pseudohypoaldosteronism, type i, autosomal recessive. 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 Enalaprilat and Enalapril have been mentioned in the context of this disorder. Affiliated tissues include Kidney, bone and lung, and related phenotypes are Increased cell death HMECs cells and growth/size/body region

Wikipedia : 74 Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism. However, the condition is... more...

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Related Diseases for Pseudohypoaldosteronism

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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 108)
# Related Disease Score Top Affiliating Genes
1 pseudohypoaldosteronism, type iia 34.2 PHA2A KLHL3 CUL3
2 pseudohypoaldosteronism, type i, autosomal recessive 33.5 SCNN1G SCNN1B SCNN1A REN NR3C2 KCNJ1
3 pseudohypoaldosteronism, type i, autosomal dominant 33.3 SGK1 SCNN1G SCNN1B SCNN1A REN NR3C2
4 arthrogryposis, distal, type 3 32.1 WNK4 WNK1 SLC12A3 REN NR3C2
5 metabolic acidosis 30.8 WNK4 WNK1 SCNN1G SCNN1B SCNN1A KLHL3
6 pseudohyperkalemia, familial, 2, due to red cell leak 30.2 WNK4 WNK1 SCNN1G REN NR3C2 KCNJ1
7 apparent mineralocorticoid excess 30.2 WNK4 REN NR3C2
8 miliaria rubra 30.2 SCNN1G SCNN1B SCNN1A NR3C2 CFTR
9 miliaria 30.2 SCNN1G SCNN1B SCNN1A NR3C2 CFTR
10 hypertension, essential 29.8 WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B
11 hypokalemia 29.7 SLC12A3 REN NR3C2 KCNJ1
12 bartter disease 29.7 WNK4 SLC12A3 REN KCNJ1
13 familial hypertension 29.7 WNK4 WNK1 REN NR3C2 KLHL3 CUL3
14 gitelman syndrome 29.6 WNK4 WNK1 SLC12A3 REN KLHL3 KCNJ1
15 nephrocalcinosis 29.2 TRPV5 SLC12A3 REN KCNJ1
16 cystic fibrosis 28.8 SGK1 SCNN1G SCNN1B SCNN1A PRSS8 KCNJ1
17 liddle syndrome 1 26.2 WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B
18 pseudohypoaldosteronism, type iie 12.8
19 pseudohypoaldosteronism, type iid 12.7
20 pseudohypoaldosteronism, type iib 12.7
21 pseudohypoaldosteronism, type iic 12.7
22 transient pseudohypoaldosteronism 12.4
23 acute cystitis 10.6
24 lipoid congenital adrenal hyperplasia 10.6
25 urinary tract obstruction 10.5
26 pyelonephritis 10.4
27 hypoadrenalism 10.4
28 hypoaldosteronism 10.4
29 hydronephrosis 10.4
30 renal tubular acidosis 10.3
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 hyperkalemic periodic paralysis 10.1
38 dowling-degos disease 1 10.1
39 c syndrome 10.1
40 cardiac arrest 10.1
41 cholelithiasis 10.1
42 pyloric stenosis 10.1
43 thrombocytosis 10.1
44 polyhydramnios 10.1
45 distal renal tubular acidosis 10.1
46 hypotonia 10.1
47 rare renal tubular disease 10.1
48 bartter syndrome, type 1, antenatal 10.1 SLC12A3 KCNJ1
49 hyperaldosteronism, familial, type i 10.1 WNK4 WNK1 REN NR3C2
50 bartter syndrome, type 3 10.0 SLC12A3 REN KCNJ1

Graphical network of the top 20 diseases related to Pseudohypoaldosteronism:



Diseases related to Pseudohypoaldosteronism
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Symptoms & Phenotypes for Pseudohypoaldosteronism

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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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.1 CFTR CLDN8 CUL3 KCNJ1 NR3C2 NR4A1
2 homeostasis/metabolism MP:0005376 10.09 ASIC5 CFTR CLDN8 CUL3 KCNJ1 KLHL3
3 cardiovascular system MP:0005385 10.06 CLDN8 CUL3 KCNJ1 KLHL3 NR3C2 NR4A1
4 normal MP:0002873 9.56 ASIC5 CFTR NR4A1 PRSS8 REN SCNN1A
5 renal/urinary system MP:0005367 9.44 CLDN8 KCNJ1 KLHL3 NR3C2 REN SCNN1A
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Drugs & Therapeutics for Pseudohypoaldosteronism

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Enalaprilat Approved Phase 2 76420-72-9 6917719
2
Enalapril Approved, Vet_approved Phase 2 75847-73-3 5362032 40466924
3 HIV Protease Inhibitors Phase 2
4
protease inhibitors Phase 2
5 Antihypertensive Agents Phase 2
6 Chelating Agents Phase 2
7 Polystyrene sulfonic acid Phase 2
8 Angiotensin-Converting Enzyme Inhibitors Phase 2
9
Parathyroid hormone Approved, Investigational 9002-64-6
10
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
11
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
12
Calcium Approved, Nutraceutical 7440-70-2 271
13 Mineralocorticoids
14 Hormone Antagonists
15 Hormones
16 Trace Elements
17 Vitamins
18 Micronutrients
19 Nutrients
20 Ergocalciferols
21 Vitamin D2
22 Calciferol
23 Calcium, Dietary

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
6 Studies of States With Resistance to Vitamin D and Parathyroid Hormone Recruiting NCT00001242

Search NIH Clinical Center for Pseudohypoaldosteronism

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Genetic Tests for Pseudohypoaldosteronism

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Genetic tests related to Pseudohypoaldosteronism:

# Genetic test Affiliating Genes
1 Pseudohypoaldosteronism 29
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Anatomical Context for Pseudohypoaldosteronism

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MalaCards organs/tissues related to Pseudohypoaldosteronism:

40
Kidney, Bone, Lung, Testes, Skin, Colon, 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
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Publications for Pseudohypoaldosteronism

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Articles related to Pseudohypoaldosteronism:

(show top 50) (show all 658)
# Title Authors PMID Year
1
Truncated beta epithelial sodium channel (ENaC) subunits responsible for multi-system pseudohypoaldosteronism support partial activity of ENaC. 54 61
20064610 2010
2
Pseudohypoaldosteronism type 1 due to a novel mutation in the mineralocorticoid receptor gene. 54 61
20453518 2010
3
WNK kinases and blood pressure control. 54 61
19895753 2009
4
Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene. 54 61
19912655 2009
5
Distal potassium handling based on flow modulation of maxi-K channel activity. 54 61
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. 54 61
18547339 2009
7
A novel nonsense mutation of the mineralocorticoid receptor gene in the renal form of pseudohypoaldosteronism type 1. 54 61
19344080 2009
8
WNK3 and WNK4 amino-terminal domain defines their effect on the renal Na+-Cl- cotransporter. 54 61
18701621 2008
9
Silencing of the mineralocorticoid receptor by ribonucleic acid interference in transgenic rats disrupts endocrine homeostasis. 54 61
18337591 2008
10
A patient with pseudohypoaldosteronism type II caused by a novel mutation in WNK4 gene. 54 61
19016006 2008
11
Increased urinary Na-Cl cotransporter protein in familial hyperkalaemia and hypertension. 54 61
17951312 2008
12
A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism. 54 61
17401586 2007
13
[Mineralocorticoid resistance: pseudohypoaldosteronism type 1]. 54 61
17546235 2007
14
Intersectin links WNK kinases to endocytosis of ROMK1. 54 61
17380208 2007
15
An SGK1 site in WNK4 regulates Na+ channel and K+ channel activity and has implications for aldosterone signaling and K+ homeostasis. 54 61
17360471 2007
16
Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1. 54 61
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. 54 61
17317952 2007
18
Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. 54 61
16972228 2007
19
Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. 54 61
16954160 2006
20
Overexpression of human WNK1 increases paracellular chloride permeability and phosphorylation of claudin-4 in MDCKII cells. 54 61
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. 54 61
16757525 2006
22
WNK1 affects surface expression of the ROMK potassium channel independent of WNK4. 54 61
16775035 2006
23
Protein kinase WNK3 increases cell survival in a caspase-3-dependent pathway. 54 61
16501604 2006
24
WNK1 kinase isoform switch regulates renal potassium excretion. 54 61
16709664 2006
25
WNK1 regulates phosphorylation of cation-chloride-coupled cotransporters via the STE20-related kinases, SPAK and OSR1. 54 61
16263722 2005
26
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. 54 61
16207733 2005
27
Association of WNK1 gene polymorphisms and haplotypes with ambulatory blood pressure in the general population. 54 61
16301342 2005
28
WNK lies upstream of kinases involved in regulation of ion transporters. 54 61
16173916 2005
29
WNK1 activates SGK1 by a phosphatidylinositol 3-kinase-dependent and non-catalytic mechanism. 54 61
16081417 2005
30
A new kindred with pseudohypoaldosteronism type II and a novel mutation (564D>H) in the acidic motif of the WNK4 gene. 54 61
15998707 2005
31
WNK1 activates SGK1 to regulate the epithelial sodium channel. 54 61
16006511 2005
32
Properties of WNK1 and implications for other family members. 54 61
15883153 2005
33
Regulation of apical localization of the thiazide-sensitive NaCl cotransporter by WNK4 in polarized epithelial cells. 54 61
15796898 2005
34
WNK kinases and the control of blood pressure. 54 61
15866321 2005
35
Normal CFTR Activity and Reversed Skin Potentials in Pseudohypoaldosteronism. 54 61
15986094 2005
36
WNK1: analysis of protein kinase structure, downstream targets, and potential roles in hypertension. 54 61
15686619 2005
37
Pseudohypoaldosteronism type 1 and the genes encoding prostasin, alpha-spectrin, and Nedd4. 54 61
15547682 2004
38
WNK kinases: molecular regulators of integrated epithelial ion transport. 54 61
15300163 2004
39
Hypercalciuria in familial hyperkalemia and hypertension accompanies hyperkalemia and precedes hypertension: description of a large family with the Q565E WNK4 mutation. 54 61
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. 54 61
15126534 2004
41
Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism. 54 61
15134810 2004
42
WNK1, the kinase mutated in an inherited high-blood-pressure syndrome, is a novel PKB (protein kinase B)/Akt substrate. 54 61
14611643 2004
43
A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1). 54 61
14715854 2004
44
Identification of 108 SNPs in TSC, WNK1, and WNK4 and their association with hypertension in a Japanese general population. 54 61
15309683 2004
45
Multiple promoters in the WNK1 gene: one controls expression of a kidney-specific kinase-defective isoform. 54 61
14645531 2003
46
Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. 54 61
14610273 2003
47
Mendelian hypertension with brachydactyly as a molecular genetic lesson in regulatory physiology. 54 61
12959913 2003
48
Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. 54 61
12788847 2003
49
Genetic variants of WNK4 in whites and African Americans with hypertension. 54 61
12719438 2003
50
[Monogenic hypertension]. 54 61
12715144 2003
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Variations for Pseudohypoaldosteronism

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ClinVar genetic disease variations for Pseudohypoaldosteronism:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NR3C2 NM_000901.5(NR3C2):c.1409C>A (p.Ser470Ter)SNV Pathogenic 252501 rs879255348 4:149356604-149356604 4:148435452-148435452
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Expression for Pseudohypoaldosteronism

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Search GEO for disease gene expression data for Pseudohypoaldosteronism.
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Pathways for Pseudohypoaldosteronism

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Pathways related to Pseudohypoaldosteronism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 65
Show member pathways
 13.2 WNK4 WNK1 TRPV5 SLC12A3 SGK1 SCNN1G
2
Neuropathic Pain-Signaling in Dorsal Horn Neurons 63
Show member pathways
 12.47 SLC12A3 SCNN1G SCNN1B SCNN1A NEDD4 CFTR
3
Ion channel transport 65
Show member pathways
 12.35 WNK4 WNK1 TRPV5 SGK1 SCNN1G SCNN1B
4
Taste transduction 36
Show member pathways
 11.72 SCNN1G SCNN1B SCNN1A
5
PI3K / Akt Signaling 4
11.7 WNK4 WNK1 SGK1 NR4A1
6
Aldosterone-regulated sodium reabsorption 36
11.2 SGK1 SCNN1G SCNN1B SCNN1A NR3C2 KCNJ1
7
CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) 22
10.98 SCNN1G SCNN1B SCNN1A PRSS8 NEDD4 CFTR
8
NO-dependent CFTR activation (normal and CF) 22
10.74 SCNN1G SCNN1B SCNN1A CFTR
9
Diuretics Pathway, Pharmacodynamics 60
10.69 WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B
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GO Terms for Pseudohypoaldosteronism

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.09 WNK4 WNK1 TRPV5 SLC12A3 SGK1 SCNN1G
2 plasma membrane GO:0005886 10.07 TRPV5 SLC12A3 SGK1 SCNN1G SCNN1B SCNN1A
3 apical plasma membrane GO:0016324 9.43 TRPV5 SLC12A3 SCNN1G SCNN1B SCNN1A CFTR
4 apicolateral plasma membrane GO:0016327 9.32 NEDD4 CLDN8
5 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 ion transmembrane transport GO:0034220 9.87 TRPV5 SGK1 SCNN1G SCNN1B SCNN1A KCNJ1
2 sodium ion transmembrane transport GO:0035725 9.77 SLC12A3 SCNN1G SCNN1B SCNN1A ASIC5
3 sodium ion transport GO:0006814 9.73 SLC12A3 SGK1 SCNN1G SCNN1B SCNN1A ASIC5
4 sensory perception of taste GO:0050909 9.7 SCNN1G SCNN1B SCNN1A
5 excretion GO:0007588 9.69 SCNN1G SCNN1B KCNJ1
6 ion homeostasis GO:0050801 9.63 WNK4 WNK1 KLHL3
7 negative regulation of sodium ion transport GO:0010766 9.61 WNK4 WNK1 NEDD4
8 renal sodium ion absorption GO:0070294 9.58 WNK4 SGK1 KLHL3
9 positive regulation of sodium ion transmembrane transporter activity GO:2000651 9.57 WNK4 WNK1
10 positive regulation of ion transmembrane transporter activity GO:0032414 9.56 WNK4 WNK1
11 positive regulation of potassium ion import GO:1903288 9.55 WNK4 WNK1
12 negative regulation of pancreatic juice secretion GO:0090188 9.54 WNK4 WNK1
13 distal tubule morphogenesis GO:0072156 9.49 WNK4 KLHL3
14 regulation of cellular process GO:0050794 9.48 WNK4 WNK1
15 sodium ion homeostasis GO:0055078 9.46 SLC12A3 SCNN1G SCNN1B SCNN1A
16 ion transport GO:0006811 9.32 WNK4 WNK1 TRPV5 SLC12A3 SCNN1G SCNN1B
17 multicellular organismal water homeostasis GO:0050891 9.26 SCNN1G SCNN1B SCNN1A CFTR

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.3 WNK4 WNK1 TRPV5 SLC12A3 SGK1 SCNN1G
2 WW domain binding GO:0050699 9.33 SCNN1G SCNN1B SCNN1A
3 chloride channel regulator activity GO:0017081 9.32 SGK1 CFTR
4 potassium channel inhibitor activity GO:0019870 9.26 WNK4 WNK1
5 chloride channel inhibitor activity GO:0019869 9.13 WNK4 WNK1 CFTR
6 ligand-gated sodium channel activity GO:0015280 8.92 SCNN1G SCNN1B SCNN1A ASIC5
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Sources for Pseudohypoaldosteronism

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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