MCID: PSD003
MIFTS: 45

Pseudohypoaldosteronism

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

Aliases & Classifications for Pseudohypoaldosteronism

MalaCards integrated aliases for Pseudohypoaldosteronism:

Name: Pseudohypoaldosteronism 12 73 58 29 54 6 15 70

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:4479
MeSH 44 D011546
NCIt 50 C85034
SNOMED-CT 67 77098009
UMLS via Orphanet 71 C0033805
Orphanet 58 ORPHA444916
UMLS 70 C0033805

Summaries for Pseudohypoaldosteronism

MalaCards based summary : Pseudohypoaldosteronism is related to pseudohypoaldosteronism, type iie and pseudohypoaldosteronism, type iia. 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, skin and colon, and related phenotypes are cardiovascular system and growth/size/body region

Wikipedia : 73 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 iie 32.8 WNK4 WNK1 KLHL3 CUL3
2 pseudohypoaldosteronism, type iia 32.6 PHA2A KLHL3 CUL3
3 pseudohypoaldosteronism, type i, autosomal recessive 32.5 SCNN1G SCNN1B SCNN1A REN NR3C2 KCNJ1
4 pseudohypoaldosteronism, type i, autosomal dominant 32.3 SGK1 SCNN1G SCNN1B SCNN1A REN NR3C2
5 arthrogryposis, distal, type 3 31.2 WNK4 WNK1 SLC12A3 REN NR3C2 KLHL3
6 metabolic acidosis 31.1 WNK4 WNK1 SCNN1G SCNN1B SCNN1A KLHL3
7 hypoaldosteronism 30.9 REN CYP11B2
8 miliaria rubra 30.8 SCNN1G SCNN1B SCNN1A
9 miliaria 30.8 SCNN1G SCNN1B SCNN1A
10 renal tubular acidosis 30.5 SCNN1G REN NR3C2
11 idiopathic bronchiectasis 30.3 SCNN1G SCNN1B SCNN1A
12 pseudohyperkalemia, familial, 2, due to red cell leak 30.2 WNK4 WNK1 SCNN1G REN NR3C2 KCNJ1
13 hypertension, essential 30.2 WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B
14 renal hypertension 30.0 SLC12A3 REN NR3C2
15 corticosterone methyloxidase type i deficiency 29.9 SCNN1G REN CYP11B2
16 gitelman syndrome 29.9 WNK4 WNK1 SLC12A3 REN KLHL3 KCNJ1
17 cystic fibrosis 29.9 SGK1 SCNN1G SCNN1B SCNN1A PRSS8 KCNJ1
18 hypokalemia 29.9 SLC12A3 REN NR3C2 KCNJ1
19 apparent mineralocorticoid excess 29.7 WNK4 REN NR3C2 KCNJ1 CYP11B2
20 distal arthrogryposis 29.7 WNK4 WNK1 SLC12A3 KLHL3 KCNJ1 CUL3
21 familial hypertension 29.6 WNK4 WNK1 REN NR3C2 KLHL3 CYP11B2
22 bartter disease 28.9 WNK4 WNK1 TRPV5 SLC12A3 SCNN1G SCNN1B
23 liddle syndrome 1 28.4 WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B
24 pseudohypoaldosteronism, type iid 11.5
25 pseudohypoaldosteronism, type iib 11.5
26 pseudohypoaldosteronism, type iic 11.5
27 transient pseudohypoaldosteronism 11.2
28 urinary tract infection 10.5
29 lipoid congenital adrenal hyperplasia 10.4
30 urinary tract obstruction 10.4
31 bronchiectasis 10.3 SCNN1G SCNN1B SCNN1A
32 hypertensive retinopathy 10.3 REN NR3C2
33 hydronephrosis 10.2
34 pyelonephritis 10.2
35 acute cystitis 10.2
36 steroid inherited metabolic disorder 10.2 REN NR3C2 CYP11B2
37 bartter syndrome, type 3 10.2 SLC12A3 REN KCNJ1
38 bartter syndrome, type 1, antenatal 10.2 SLC12A3 KCNJ1
39 bartter syndrome, type 2, antenatal 10.2 SCNN1G SCNN1B SCNN1A KCNJ1
40 antenatal bartter syndrome 10.2 REN KCNJ1
41 hypertensive heart disease 10.2 REN NR3C2 CYP11B2
42 adrenal gland disease 10.2 REN NR3C2 CYP11B2
43 adrenal adenoma 10.1 REN NR3C2 CYP11B2
44 mineral metabolism disease 10.1 SLC12A3 REN NR3C2 KCNJ1
45 diabetes insipidus, nephrogenic, autosomal 10.1 SLC12A3 REN KCNJ1
46 left bundle branch hemiblock 10.1 REN NR3C2
47 vesicoureteral reflux 1 10.1
48 endocrine organ benign neoplasm 10.1 REN NR3C2 CYP11B2
49 idiopathic hypercalciuria 10.1 TRPV5 REN
50 hyperaldosteronism, familial, type i 10.1 WNK4 WNK1 REN NR3C2 CYP11B2

Graphical network of the top 20 diseases related to Pseudohypoaldosteronism:



Diseases related to Pseudohypoaldosteronism

Symptoms & Phenotypes for Pseudohypoaldosteronism

MGI Mouse Phenotypes related to Pseudohypoaldosteronism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 CLDN8 CUL3 CYP11B2 KCNJ1 KLHL3 NR3C2
2 growth/size/body region MP:0005378 10.03 ASIC5 CLDN8 CUL3 CYP11B2 KCNJ1 NR3C2
3 homeostasis/metabolism MP:0005376 9.89 ASIC5 CLDN8 CUL3 CYP11B2 KCNJ1 KLHL3
4 renal/urinary system MP:0005367 9.47 CLDN8 CYP11B2 KCNJ1 KLHL3 NR3C2 REN

Drugs & Therapeutics for Pseudohypoaldosteronism

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

(show all 9)
# 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 Polystyrene sulfonic acid Phase 2
4 Chelating Agents Phase 2
5 Antihypertensive Agents Phase 2
6 Angiotensin-Converting Enzyme Inhibitors Phase 2
7
protease inhibitors Phase 2
8 HIV Protease Inhibitors Phase 2
9 Mineralocorticoids

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

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:

40
Skin, Colon, Bone Marrow, Smooth Muscle, Skeletal Muscle, Salivary Gland, Adrenal Gland
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 677)
# Title Authors PMID Year
1
Truncated beta epithelial sodium channel (ENaC) subunits responsible for multi-system pseudohypoaldosteronism support partial activity of ENaC. 61 54
20064610 2010
2
Pseudohypoaldosteronism type 1 due to a novel mutation in the mineralocorticoid receptor gene. 61 54
20453518 2010
3
WNK kinases and blood pressure control. 61 54
19895753 2009
4
Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene. 61 54
19912655 2009
5
Distal potassium handling based on flow modulation of maxi-K channel activity. 61 54
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. 61 54
18337591 2008
10
A patient with pseudohypoaldosteronism type II caused by a novel mutation in WNK4 gene. 61 54
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. 61 54
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. 61 54
17287415 2007
17
Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. 54 61
16972228 2007
18
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
19
Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. 61 54
16954160 2006
20
Overexpression of human WNK1 increases paracellular chloride permeability and phosphorylation of claudin-4 in MDCKII cells. 61 54
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. 61 54
16757525 2006
22
WNK1 affects surface expression of the ROMK potassium channel independent of WNK4. 61 54
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. 61 54
16263722 2005
26
Association of WNK1 gene polymorphisms and haplotypes with ambulatory blood pressure in the general population. 54 61
16301342 2005
27
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. 61 54
16207733 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. 61 54
16081417 2005
30
A new kindred with pseudohypoaldosteronism type II and a novel mutation (564D>H) in the acidic motif of the WNK4 gene. 61 54
15998707 2005
31
Properties of WNK1 and implications for other family members. 54 61
15883153 2005
32
WNK1 activates SGK1 to regulate the epithelial sodium channel. 61 54
16006511 2005
33
WNK kinases and the control of blood pressure. 61 54
15866321 2005
34
Regulation of apical localization of the thiazide-sensitive NaCl cotransporter by WNK4 in polarized epithelial cells. 54 61
15796898 2005
35
Normal CFTR Activity and Reversed Skin Potentials in Pseudohypoaldosteronism. 61 54
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. 61 54
15300163 2004
39
Hypercalciuria in familial hyperkalemia and hypertension accompanies hyperkalemia and precedes hypertension: description of a large family with the Q565E WNK4 mutation. 61 54
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. 61 54
15126534 2004
41
Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism. 61 54
15134810 2004
42
WNK1, the kinase mutated in an inherited high-blood-pressure syndrome, is a novel PKB (protein kinase B)/Akt substrate. 61 54
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. 61 54
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. 61 54
12959913 2003
48
Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. 61 54
12788847 2003
49
Genetic variants of WNK4 in whites and African Americans with hypertension. 61 54
12719438 2003
50
[Monogenic hypertension]. 61 54
12715144 2003

Variations for Pseudohypoaldosteronism

ClinVar genetic disease variations for Pseudohypoaldosteronism:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NR3C2 NM_000901.5(NR3C2):c.1409C>A (p.Ser470Ter) SNV Pathogenic 252501 rs879255348 GRCh37: 4:149356604-149356604
GRCh38: 4:148435452-148435452
2 SCNN1A NM_001038.6(SCNN1A):c.574del (p.Arg192fs) Deletion Pathogenic 988230 GRCh37: 12:6472719-6472719
GRCh38: 12:6363553-6363553
3 overlap with 2 genes GRCh37/hg19 4q31.23(chr4:148911418-149103259) copy number loss Likely pathogenic 997080 GRCh37: 4:148911418-149103259
GRCh38:

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
13.15 WNK4 WNK1 TRPV5 SLC12A3 SGK1 SCNN1G
2
Show member pathways
12.42 SLC12A3 SCNN1G SCNN1B SCNN1A NEDD4
3
Show member pathways
12.25 WNK4 WNK1 TRPV5 SGK1 SCNN1G SCNN1B
4
Show member pathways
11.75 SCNN1G SCNN1B SCNN1A
5 11.67 WNK4 WNK1 SGK1 NR4A1
6
Show member pathways
11.54 REN NR3C2 CYP11B2
7 11.2 SCNN1G SCNN1B SCNN1A PRSS8 NEDD4
8 11 SGK1 SCNN1G SCNN1B SCNN1A NR3C2 KCNJ1
9 10.69 WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B
10 10.61 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 plasma membrane GO:0005886 10.07 TRPV5 SLC12A3 SGK1 SCNN1G SCNN1B SCNN1A
2 membrane GO:0016020 9.89 WNK4 WNK1 TRPV5 SLC12A3 SGK1 SCNN1G
3 apical plasma membrane GO:0016324 9.55 TRPV5 SLC12A3 SCNN1G SCNN1B SCNN1A
4 apicolateral plasma membrane GO:0016327 9.37 NEDD4 CLDN8
5 plasma membrane protein complex GO:0098797 9.32 SCNN1G SCNN1B
6 sodium channel complex GO:0034706 8.8 SCNN1G SCNN1B SCNN1A

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.81 WNK4 WNK1 TRPV5 SLC12A3 SCNN1G SCNN1B
2 sodium ion transmembrane transport GO:0035725 9.8 SLC12A3 SCNN1G SCNN1B SCNN1A ASIC5
3 ion transmembrane transport GO:0034220 9.8 TRPV5 SGK1 SCNN1G SCNN1B SCNN1A KCNJ1
4 sensory perception of taste GO:0050909 9.72 SCNN1G SCNN1B SCNN1A
5 excretion GO:0007588 9.7 SCNN1G SCNN1B KCNJ1
6 ion homeostasis GO:0050801 9.65 WNK4 WNK1 KLHL3
7 multicellular organismal water homeostasis GO:0050891 9.63 SCNN1G SCNN1B SCNN1A
8 negative regulation of sodium ion transport GO:0010766 9.61 WNK4 WNK1 NEDD4
9 potassium ion homeostasis GO:0055075 9.58 SLC12A3 CYP11B2
10 positive regulation of sodium ion transmembrane transporter activity GO:2000651 9.57 WNK4 WNK1
11 positive regulation of potassium ion import GO:1903288 9.56 WNK4 WNK1
12 negative regulation of pancreatic juice secretion GO:0090188 9.54 WNK4 WNK1
13 renal sodium ion absorption GO:0070294 9.54 WNK4 SGK1 KLHL3
14 distal tubule morphogenesis GO:0072156 9.51 WNK4 KLHL3
15 cellular response to aldosterone GO:1904045 9.5 SGK1 SCNN1G SCNN1B
16 regulation of cellular process GO:0050794 9.49 WNK4 WNK1
17 sodium ion transport GO:0006814 9.43 SLC12A3 SGK1 SCNN1G SCNN1B SCNN1A ASIC5
18 sodium ion homeostasis GO:0055078 9.02 SLC12A3 SCNN1G SCNN1B SCNN1A CYP11B2

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

# Name GO ID Score Top Affiliating Genes
1 WW domain binding GO:0050699 9.33 SCNN1G SCNN1B SCNN1A
2 chloride channel inhibitor activity GO:0019869 9.32 WNK4 WNK1
3 potassium channel inhibitor activity GO:0019870 9.26 WNK4 WNK1
4 sodium channel activity GO:0005272 9.26 SCNN1G SCNN1B SCNN1A ASIC5
5 ligand-gated sodium channel activity GO:0015280 8.92 SCNN1G SCNN1B SCNN1A ASIC5

Sources for Pseudohypoaldosteronism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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