MCID: PSD003
MIFTS: 47

Pseudohypoaldosteronism malady

Summaries for Pseudohypoaldosteronism

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63Wikipedia, 32MalaCards
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Wikipedia:63 Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism. However, the condition is... more...

MalaCards: Pseudohypoaldosteronism is related to pseudohypoaldosteronism type ii and autosomal recessive pseudohypoaldosteronism type 1. An important gene associated with Pseudohypoaldosteronism is SCNN1A (sodium channel, non-voltage-gated 1 alpha subunit), and among its related pathways are Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics and Sodium channels and transporters: inward current. The compounds tetrahydroaldosterone and ru 26752 have been mentioned in the context of this disorder. Affiliated tissues include lung, colon and skin, and related mouse phenotypes are renal/urinary system and cardiovascular system.

Aliases & Classifications for Pseudohypoaldosteronism

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt
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Aliases & Descriptions:

pseudohypoaldosteronism 8 10 44 60


External Ids:

Disease Ontology8 DOID:4479
MeSH34 D011546
SNOMED-CT56 77098009
NCIt39 C85034

Related Diseases for Pseudohypoaldosteronism

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17GeneCards, 18GeneDecks
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Diseases in the Pseudohypoaldosteronism Type Iib family:

pseudohypoaldosteronism Pseudohypoaldosteronism Type Ii
Pseudohypoaldosteronism Type Iic Pseudohypoaldosteronism Type Iie
Pseudohypoaldosteronism Type Iid Pseudohypoaldosteronism Type 1
Pseudohypoaldosteronism, Type Iia Transient Pseudohypoaldosteronism

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

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoaldosteronism type ii31.0NR3C2, REN, WNK4, WNK1, SLC12A3
2autosomal recessive pseudohypoaldosteronism type 130.7SCNN1A, SCNN1B
3pseudohypoaldosteronism type 130.7SCNN1G, SCNN1A, SCNN1B
4hypertension30.4SCNN1B, SCNN1A, SCNN1G, NR3C2, REN, WNK4
5cystic fibrosis30.2KCNJ1, PRSS8, SGK1, ASIC5
6liddle syndrome29.8KLHL3, SCNN1B, SCNN1A, SCNN1G, WNK4
7hyperaldosteronism29.8KCNJ1, NR3C2, CYP21A2, REN, SLC12A3
8autosomal dominant pseudohypoaldosteronism type 110.6
9pseudohypoaldosteronism type iib10.4
10pseudohypoaldosteronism type iid10.4
11pyelonephritis10.3
12pseudohypoaldosteronism type iic10.3
13congenital adrenal hyperplasia10.2
14pseudohypoaldosteronism type iie10.2
15pseudohypoaldosteronism, type iia10.2
16miliaria rubra10.1
17miliaria10.1
18thrombocytosis10.1
19acute pyelonephritis10.1
20polyhydramnios10.1
21transient pseudohypoaldosteronism10.1
22bartter disease10.0KCNJ1
23apparent mineralocorticoid excess syndrome10.0NR3C2
24glucocorticoid-remediable aldosteronism10.0REN, NR3C2
25hypoaldosteronism10.0REN
26bartter syndrome, type 210.0REN, KCNJ1
27bartter syndrome type 310.0KCNJ1, REN, SLC12A3
28metabolic acidosis10.0SCNN1G, NR3C2, REN, WNK4
29conn's syndrome10.0NR3C2, REN
30gitelman syndrome10.0KCNJ1, REN, WNK1, SLC12A3
31hypokalemia10.0SLC12A3, REN, NR3C2, KCNJ1
32atherosclerosis10.0NR3C2, NR4A1
33adrenal gland hyperfunction10.0CYP21A2, NR3C2
34congestive heart failure10.0SGK1, REN, NR3C2
35diabetic nephropathy10.0SGK1, SLC12A3, REN, NR3C2
36cushing's syndrome10.0CYP21A2, REN
37essential hypertension10.0NR3C2, REN, WNK4, WNK1, SLC12A3, SGK1
38primary hyperoxaluria10.0SLC12A3, REN, NR3C2, SCNN1B
39urethritis9.9
40hydronephrosis9.9
41ureterocele9.9
42nephrocalcinosis9.9
43down syndrome9.9
44renal tubular acidosis9.9
45bronchopneumonia9.9
46cholelithiasis9.9
47gastroenteritis9.9
48pneumothorax9.9
49pyloric stenosis9.9
50renal hypertension9.9

Graphical network of the top 20 diseases related to Pseudohypoaldosteronism:



Diseases related to pseudohypoaldosteronism

Clinical Features for Pseudohypoaldosteronism

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Drugs & Therapeutics for Pseudohypoaldosteronism

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Pseudohypoaldosteronism

Drug clinical trials:

Search ClinicalTrials for Pseudohypoaldosteronism

Search NIH Clinical Center for Pseudohypoaldosteronism

Search CenterWatch for Pseudohypoaldosteronism

Genetic Tests for Pseudohypoaldosteronism

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Anatomical Context for Pseudohypoaldosteronism

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Pseudohypoaldosteronism:

32
Lung, Colon, Skin, Kidney, Testes, Bone, Eye, Salivary gland

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Pseudohypoaldosteronism:
id TissueAnatomical CompartmentCell Relevance
1 KidneyDistal TubuleDistal Tubule Cells Potential therapeutic candidate, affected by disease

Animal Models for Pseudohypoaldosteronism or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Pseudohypoaldosteronism:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.9SGK1, KCNJ1, SCNN1B, SCNN1A, SCNN1G, NR3C2
2MP:00053858.8KCNJ1, SCNN1B, NEDD4, NR3C2, REN, WNK4
3MP:00107688.8SCNN1B, SCNN1A, SCNN1G, NEDD4, PRSS8, NR4A1
4MP:00053768.7PRSS8, SCNN1G, SCNN1A, SCNN1B, KCNJ1, NR3C2
5MP:00053788.6KCNJ1, SCNN1B, SCNN1G, NEDD4, PRSS8, NR4A1

Publications for Pseudohypoaldosteronism

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50PubMed
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Articles related to Pseudohypoaldosteronism:

(show top 50)    (show all 236)
idTitleAuthorsYear
1
Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant. (23327809)
2013
2
Novel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1. (23762408)
2013
3
A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene. (23031435)
2013
4
An inducible transgenic mouse model for familial hypertension with hyperkalaemia (Gordon's syndrome or pseudohypoaldosteronism type II). (23336180)
2013
5
Novel mutation in the epithelial sodium channel causing type I pseudohypoaldosteronism in a patient misdiagnosed with cystic fibrosis. (22371258)
2012
6
Pseudohypoaldosteronism masquerading as congenital adrenal hyperplasia. (21638072)
2012
7
Pseudohypoaldosteronism type 1: the index case revisited. (19788590)
2011
8
Structural chromosome disruption of the NR3C2 gene causing pseudohypoaldosteronism type 1 presenting in infancy. (21932599)
2011
9
Pseudohypoaldosteronism type 1 due to a novel mutation in the mineralocorticoid receptor gene. (20453518)
2010
10
Case report: severe neonatal hyperkalemia due to pseudohypoaldosteronism type 1. (19657313)
2009
11
Clinical and molecular features of type 1 pseudohypoaldosteronism. (19571553)
2009
12
A patient with pseudohypoaldosteronism type II caused by a novel mutation in WNK4 gene. (19016006)
2008
13
Two cases of transient pseudohypoaldosteronism due to group B streptococcus pyelonephritis. (18481108)
2008
14
Suspected transient pseudohypoaldosteronism in a 10-day-old quarter horse foal. (18512462)
2008
15
Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1. (17287415)
2007
16
Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism. (15853823)
2005
17
A new kindred with pseudohypoaldosteronism type II and a novel mutation (564D>H) in the acidic motif of the WNK4 gene. (15998707)
2005
18
Transient Pseudohypoaldosteronism in an infant with urinary tract anomaly. (15491397)
2004
19
Gene symbol: SCNN1B. Disease: Pseudohypoaldosteronism, type 1. (15046051)
2004
20
Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity. (12679457)
2003
21
Pseudohypoaldosteronism type 1 and respiratory distress syndrome. (12503866)
2002
22
Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes. (12107247)
2002
23
Transient pseudohypoaldosteronism secondary to posterior urethral valves--a case report and review of the literature. (11558022)
2001
24
Pseudohypoaldosteronism type 1 and respiratory distress syndrome. (10955951)
2000
25
Polyhydramnios as a sign of fetal pseudohypoaldosteronism. (10760533)
2000
26
Disruption of the beta subunit of the epithelial Na+ channel in mice: hyperkalemia and neonatal death associated with a pseudohypoaldosteronism phenotype. (9990092)
1999
27
Familial pseudohypoaldosteronism. (9174729)
1997
28
Pseudohypoaldosteronism: mutation found, problem solved? (9406852)
1997
29
Impaired rapid mineralocorticoid action on free intracellular calcium in pseudohypoaldosteronism. (9062491)
1997
30
A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel. (9118951)
1997
31
Disordered meibomian gland function in pseudohypoaldosteronism. (8694712)
1996
32
Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping. (8824886)
1996
33
Urinary steroid profile of a newborn suffering from pseudohypoaldosteronism. (7664464)
1995
34
No apparent mineralocorticoid receptor defect in a series of sporadic cases of pseudohypoaldosteronism. (7883835)
1995
35
Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis. (7593448)
1995
36
The enigma of pseudohypoaldosteronism. (8027237)
1994
37
Immunofluorescence of mineralocorticoid receptors in peripheral lymphocytes: presence of receptor-like activity in patients with the autosomal dominant form of pseudohypoaldosteronism, and its absence in the recessive form. (7826888)
1994
38
Nephrocalcinosis in pseudohypoaldosteronism and the effect of indomethacin therapy. (8040773)
1994
39
A hereditary form of pseudohypoaldosteronism may be manifested in the course of pyelonephritis. (8518534)
1993
40
Pseudohypoaldosteronism in a preterm infant: intrauterine presentation as hydramnios. (1731010)
1992
41
Erythrocyte transmembrane Na and K fluxes in pseudohypoaldosteronism. (1335741)
1992
42
Increased chloride reabsorption as an inherited renal tubular defect in familial type II pseudohypoaldosteronism. (1988833)
1991
43
Apparent mineralocorticoid excess, pseudohypoaldosteronism, and urinary electrolyte excretion: toward a redefinition of mineralocorticoid action. (2172062)
1990
44
Pseudohypoaldosteronism: a review and report of two new cases. (3012977)
1986
45
Treatment of mineralocorticoid-resistant renal hyperkalemia with hypertension (type II pseudohypoaldosteronism). (3463275)
1986
46
Pseudohypoaldosteronism type II: proximal renal tubular acidosis and dDAVP-sensitive renal hyperkalemia. (3777034)
1986
47
Pseudohypoaldosteronism in a child with Down syndrome. Long-term management of salt loss by ion exchange resin administration. (6237912)
1984
48
Multiple target involvement in pseudohypoaldosteronism. (448895)
1979
49
Pseudohypoaldosteronism. (477044)
1979
50
Pseudohypoaldosteronism. (4783665)
1973

Genetic Variations for Pseudohypoaldosteronism

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Expression for genes affiliated with Pseudohypoaldosteronism

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pseudohypoaldosteronism

Search GEO for disease gene expression data for Pseudohypoaldosteronism.

Pathways for genes affiliated with Pseudohypoaldosteronism

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49PharmGKB, 37NCBI BioSystems Database, 12EMD Millipore, 53Reactome, 29KEGG, 4Cell Signaling Technology, 51QIAGEN
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Compounds for genes affiliated with Pseudohypoaldosteronism

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44Novoseek, 59Tocris Bioscience, 28IUPHAR, 24HMDB, 11DrugBank, 49PharmGKB, 2BitterDB
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Compounds related to Pseudohypoaldosteronism according to GeneCards/GeneDecks:

(show all 42)
idCompoundScoreTop Affiliating Genes
1tetrahydroaldosterone4410.5REN, NR3C2
2ru 2675244 5911.5NR4A1, NR3C2
3deoxycorticosterone28 2411.5NR3C2, CYP21A2
4bendroflumethiazide44 1111.5REN, SLC12A3
5drospirenone44 49 28 1113.5NR3C2, REN
6cortisol28 2411.5NR3C2, CYP21A2
7metanephrine44 2411.4CYP21A2, REN
8eplerenone44 59 28 1113.4REN, NR3C2
9glycyrrhetinic acid44 2411.4NR3C2, REN
10fludrocortisone44 28 1112.4NR3C2, CYP21A2, REN
11doca4410.4NR3C2, CYP21A2, REN
12hydrochlorothiazide44 49 28 11 2414.4SLC12A3, REN, NR3C2
1311 deoxycortisol4410.4NR3C2, CYP21A2, REN
14triamterene44 11 2412.4SCNN1B, SCNN1A, SCNN1G, NR3C2
15aminoglutethimide44 1111.3CYP21A2, NR3C2
163beta-hydroxysteroid4410.3CYP21A2, NR3C2, NR4A1
17chlorine44 2411.2WNK4, WNK1, SLC12A3, SGK1
1811beta-hydroxysteroid4410.2NR3C2, CYP21A2, REN, SGK1
19catecholamine4410.2NR3C2, CYP21A2, REN
20corticosterone44 59 2412.2REN, CYP21A2, NR3C2, NR4A1
21haloperidol44 28 2 49 1114.2REN, NR3C2, NR4A1
22acth4410.1NR4A1, NR3C2, CYP21A2, REN
23glycyrrhizin44 2811.1REN, NR3C2
24thiazide4410.1SCNN1A, NR3C2, REN, WNK4, WNK1, SLC12A3
25amiloride44 28 1112.0SCNN1B, SCNN1A, SCNN1G, NR3C2, REN, ASIC5
26spironolactone49 44 59 28 1114.0NR4A1, NR3C2, CYP21A2, REN, SGK1
27hydrocortisone44 2 59 1113.0NR3C2, CYP21A2, REN
28magnesium44 11 2411.9KCNJ1, WNK2, WNK4, WNK3, WNK1
29aldosterone28 11 2411.9SGK1, NR3C2
30lysine449.9KCNJ1, NR3C2, WNK4, WNK1, CUL3, SLC12A3
31dexamethasone44 49 28 1112.8SCNN1A, NR4A1, NR3C2, CYP21A2, REN, SGK1
32chloride449.8KCNJ1, NR3C2, REN, WNK4, WNK1, SLC12A3
33threonine449.8NR4A1, CYP21A2, WNK4, WNK1, SLC12A3, SGK1
34alanine449.7KCNJ1, NEDD4, NR4A1, NR3C2, SLC12A3, SGK1
35Adenosine triphosphate11 2410.7NEDD4, WNK2, WNK4, WNK3, WNK1, SGK1
36steroid449.7NR4A1, NR3C2, CYP21A2, REN, SGK1
37potassium44 11 2411.7KCNJ1, PRSS8, NR3C2, REN, WNK4, WNK1
38nacl449.5KCNJ1, SCNN1A, NR3C2, CYP21A2, REN, WNK4
39tyrosine449.3SCNN1G, NR4A1, NR3C2, CYP21A2, WNK1, SGK1
40serine449.2KCNJ1, PRSS8, NR4A1, NR3C2, CYP21A2, WNK4
41calcium44 49 11 2412.2NEDD4, NR4A1, NR3C2, CYP21A2, REN, WNK1
42sodium44 249.5ASIC5, KCNJ1, SCNN1B, SCNN1A, SCNN1G, NEDD4

GO Terms for genes affiliated with Pseudohypoaldosteronism

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16Gene Ontology
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Cellular components related to Pseudohypoaldosteronism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium channel complexGO:03470610.0SCNN1G, SCNN1A, SCNN1B
2apical plasma membraneGO:0163249.9SLC12A3, SCNN1G, SCNN1A, SCNN1B
3plasma membraneGO:0058868.3KCNJ1, SCNN1B, SCNN1A, SCNN1G, NEDD4, PRSS8

Biological processes related to Pseudohypoaldosteronism according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1distal tubule morphogenesisGO:07215610.4KLHL3, WNK4
2regulation of cellular processGO:05079410.4WNK4, WNK1
3negative regulation of pancreatic juice secretionGO:09018810.4WNK1, WNK4
4sensory perception of tasteGO:05090910.4SCNN1B, SCNN1A, SCNN1G
5ion homeostasisGO:05080110.3WNK4, KLHL3
6regulation of ion homeostasisGO:200002110.2WNK3, WNK2
7excretionGO:00758810.2KCNJ1, SCNN1B, SCNN1A, SCNN1G
8renal sodium ion absorptionGO:07029410.2SGK1, WNK4, KCNJ1, KLHL3
9protein monoubiquitinationGO:00651310.1CUL3, NEDD4
10intracellular protein kinase cascadeGO:00724310.1WNK1, WNK3, WNK4, WNK2
11positive regulation of sodium ion transmembrane transporter activityGO:200065110.1WNK3, WNK2
12sodium ion transportGO:00681410.1SCNN1B, SCNN1A, SCNN1G, SLC12A3, SGK1
13response to stimulusGO:05089610.0SCNN1B, SCNN1A, SCNN1G
14ion transmembrane transportGO:03422010.0ASIC5, SGK1, SCNN1G, SCNN1A, SCNN1B
15positive regulation of sodium ion transportGO:0107659.9WNK3, PRSS8
16transmembrane transportGO:0550859.8SCNN1B, SCNN1A, SCNN1G, SLC12A3, SGK1, ASIC5
17protein phosphorylationGO:0064689.7WNK2, WNK4, WNK3, WNK1, SGK1

Molecular functions related to Pseudohypoaldosteronism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1WW domain bindingGO:05069910.0SCNN1G, SCNN1A, SCNN1B
2ligand-gated sodium channel activityGO:0152809.9ASIC5, SCNN1G, SCNN1A, SCNN1B
3protein serine/threonine kinase activityGO:0046749.3WNK2, WNK4, WNK3, WNK1, SGK1
4protein bindingGO:0055158.5SCNN1B, SCNN1A, SCNN1G, NEDD4, PRSS8, NR4A1

Products for genes affiliated with Pseudohypoaldosteronism

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Sources for Pseudohypoaldosteronism

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet