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 type 1: management issues. (23680607)
2013
2
Pseudohypoaldosteronism. (23392097)
2013
3
Clinical and molecular analysis of six Japanese patients with a renal form of pseudohypoaldosteronism type 1. (23197115)
2013
4
A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3. (23902721)
2013
5
Pseudohypoaldosteronism type 1: a rare cause of severe dyselectrolytemia and cardiovascular collapse in neonates. (24027733)
2012
6
Pathogenesis of pseudohypoaldosteronism type 2 by WNK1 mutations. (22080857)
2012
7
Neonatal renal venous thrombosis followed by secondary pseudohypoaldosteronism. (23279027)
2012
8
Pseudohypoaldosteronism type 2 presenting with hypertension and hyperkalaemia due to a novel mutation in the WNK4 gene. (21764813)
2012
9
Pseudohypoaldosteronism type 1 in an infant. (21789870)
2011
10
Does pseudohypoaldosteronism mask the diagnosis of congenital adrenal hyperplasia? (22155467)
2011
11
Clinical improvement in patients with autosomal recessive pseudohypoaldosteronism and the necessity for salt supplementation. (20661616)
2010
12
Aerococcus viridans urinary tract infection in a pediatric patient with secondary pseudohypoaldosteronism. (21229195)
2010
13
Mechanisms of type I and type II pseudohypoaldosteronism. (20829405)
2010
14
Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes. (18634878)
2008
15
Mineralocorticoid resistance: pseudohypoaldosteronism type 1]. (17546235)
2007
16
Exclusion of serum- and glucocorticoid-induced kinase 1 (SGK1) as a candidate gene for genetically heterogeneous renal pseudohypoaldosteronism type I in eight families. (17317952)
2007
17
No evidence of hearing loss in pseudohypoaldosteronism type 1 patients. (16618647)
2006
18
Pseudohypoaldosteronism type 1 and the genes encoding prostasin, alpha-spectrin, and Nedd4. (15547682)
2004
19
Pustular miliaria rubra: a specific cutaneous finding of type I pseudohypoaldosteronism. (12220275)
2002
20
Reversible secondary pseudohypoaldosteronism due to pyelonephritis. (12478361)
2002
21
Pseudohypoaldosteronism: kidney, lungs and colon. (12030904)
2002
22
Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds. (11344206)
2001
23
Compound heterozygous mutations in the gamma subunit gene of ENaC (1627delG and 1570-1G-->A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1. (11231969)
2001
24
Growth hormone activates renin-aldosterone system in children with idiopathic short stature and in a pseudohypoaldosteronism patient with a mutation in epithelial sodium channel alpha subunit. (11358674)
2001
25
Pseudohypoaldosteronism: mineralocorticoid unresponsiveness syndrome. (10998851)
2000
26
Transient pseudohypoaldosteronism with complex malformation of internal genitalia. A case report. (11357009)
2000
27
Functional expression of a pseudohypoaldosteronism type I mutated epithelial Na+ channel lacking the pore-forming region of its alpha subunit. (10510337)
1999
28
Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel. (10586178)
1999
29
Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. (9662404)
1998
30
Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21. (9171836)
1997
31
Pseudohypoaldosteronism due to renal and multisystem resistance to mineralocorticoids respond differently to carbenoxolone. (9182864)
1997
32
Pseudohypoaldosteronism: family studies to identify asymptomatic carriers by stimulation of the renin-aldosterone system. (8894667)
1996
33
Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. (8589714)
1996
34
Severe pseudohypoaldosteronism in a pair of twins not associated with hydramnios. (8865238)
1996
35
Pseudohypoaldosteronism]. (8904242)
1996
36
Pseudohypoaldosteronism following operative correction of unilateral obstructive nephropathy. (7656513)
1995
37
Pseudohypoaldosteronism: evaluation of type I receptors by radioreceptor assay and by antireceptor antibodies. (7792805)
1995
38
Type II pseudohypoaldosteronism. Report of a case and review of the literature. (7930391)
1994
39
Pseudohypoaldosteronism with increased sweat and saliva electrolyte values and frequent lower respiratory tract infections mimicking cystic fibrosis. (7965429)
1994
40
Pseudohypoaldosteronism: molecular characterization of the mineralocorticoid receptor. (8027241)
1994
41
Transient pseudohypoaldosteronism in obstructive renal disease with transient reduction of lymphocytic aldosterone receptors. Results in two affected infants. (8262477)
1993
42
Inheritance of mineralocorticoid effector abnormalities of human mononuclear leucocytes in families with pseudohypoaldosteronism. (2627754)
1989
43
Familial pseudohypoaldosteronism. (2967023)
1988
44
Early childhood hyperkalemia: variety of pseudohypoaldosteronism. (3551490)
1986
45
Prospective diagnosis of pseudohypoaldosteronism. (3529026)
1986
46
Pseudohypoaldosteronism in a female infant and her family: diversity of clinical expression and mode of inheritance. (4024936)
1985
47
Pseudohypoaldosteronism. Response to long-term treatment with indomethacin. (7125695)
1982
48
Analysis of steroids in urine for differentiation of pseudohypoaldosteronism and aldosterone biosynthetic defect. (7033278)
1982
49
Pseudohypoaldosteronism. (7002056)
1980
50
Multiple target involvement in pseudohypoaldosteronism. (448896)
1979

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

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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