MCID: PSD003
MIFTS: 49

Pseudohypoaldosteronism malady

Genetic diseases, Nephrological diseases, Rare diseases, Fetal diseases, Cardiovascular diseases categories
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Summaries for Pseudohypoaldosteronism

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65Wikipedia, 33MalaCards
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Wikipedia:65 Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism. However, the condition is... more...

MalaCards: Pseudohypoaldosteronism is related to pseudohypoaldosteronism type 1 and pseudohypoaldosteronism type ii. An important gene associated with Pseudohypoaldosteronism is SCNN1A (sodium channel, non-voltage-gated 1 alpha subunit), and among its related pathways are Sodium channels and transporters inward current and Taste transduction. The compounds chlorine and triamterene have been mentioned in the context of this disorder. Affiliated tissues include colon, lung and kidney, and related mouse phenotypes are cardiovascular system and renal/urinary system.

Aliases & Classifications for Pseudohypoaldosteronism

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8Disease Ontology, 10DISEASES, 45Novoseek, 62UMLS, 40NCIt, 58SNOMED-CT, 35MeSH
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Classifications:



Aliases & Descriptions:

pseudohypoaldosteronism 8 10 45 62


External Ids:

Disease Ontology8 DOID:4479
NCIt40 C85034
SNOMED-CT58 77098009
MeSH35 D011546

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 all 42)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoaldosteronism type 131.2SCNN1B, SCNN1A
2pseudohypoaldosteronism type ii30.9WNK1, WNK4, NR3C2
3autosomal recessive pseudohypoaldosteronism type 130.9SCNN1B, SCNN1A
4hypertension30.3SCNN1B, SCNN1A, WNK1, WNK4, NR3C2
5liddle syndrome29.9WNK4, SCNN1A, SCNN1B
6autosomal dominant pseudohypoaldosteronism type 110.7
7transient pseudohypoaldosteronism10.5
8pseudohypoaldosteronism type iib10.5
9pseudohypoaldosteronism type iid10.4
10pyelonephritis10.3
11pseudohypoaldosteronism type iic10.3
12congenital adrenal hyperplasia10.3
13pseudohypoaldosteronism type iie10.3
14pseudohypoaldosteronism, type iia10.3
15cystic fibrosis10.2
16miliaria rubra10.2
17miliaria10.2
18thrombocytosis10.1
19polyhydramnios10.1
20hypoaldosteronism10.1
21primary hyperoxaluria10.0NR3C2, SCNN1B
22metabolic acidosis10.0WNK4, NR3C2
23urethritis9.9
24acute pyelonephritis9.9
25ureterocele9.9
26nephrocalcinosis9.9
27cholelithiasis9.9
28hydronephrosis9.9
29bronchopneumonia9.9
30renal tubular acidosis9.9
31down syndrome9.9
32gastroenteritis9.9
33hyperaldosteronism9.9
34pneumothorax9.9
35pyloric stenosis9.9
36urinary tract obstruction9.9
37familial hypertension9.9
38posterior urethral valves9.9
39short stature9.9
40venous thrombosis9.9
41posterior urethral valve9.9
42essential hypertension9.9NR3C2, WNK4, WNK1

Graphical network of the top 20 diseases related to Pseudohypoaldosteronism:



Diseases related to pseudohypoaldosteronism

Symptoms for Pseudohypoaldosteronism

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Drugs & Therapeutics for Pseudohypoaldosteronism

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Pseudohypoaldosteronism

Search NIH Clinical Center for Pseudohypoaldosteronism

Genetic Tests for Pseudohypoaldosteronism

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Anatomical Context for Pseudohypoaldosteronism

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31LifeMap Discovery™, 33MalaCards
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MalaCards organs/tissues related to Pseudohypoaldosteronism:

33
Colon, Lung, Kidney, Skin, Eye, Bone, Salivary gland, Testes

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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37MGI
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MGI Mouse Phenotypes related to Pseudohypoaldosteronism:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.1NR3C2, WNK4, WNK1, SCNN1B
2MP:00053677.7NR3C2, WNK4, WNK1, SCNN1A, SCNN1B
3MP:00053787.6SCNN1B, SCNN1A, CUL3, WNK1, NR3C2
4MP:00053767.5SCNN1B, SCNN1A, WNK1, WNK4, NR3C2
5MP:00107687.3SCNN1B, SCNN1A, CUL3, WNK1, NR3C2

Publications for Pseudohypoaldosteronism

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52PubMed
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Articles related to Pseudohypoaldosteronism:

(show top 50)    (show all 233)
idTitleAuthorsYear
1
SPAK deficiency corrects pseudohypoaldosteronism II caused by WNK4 mutation. (24039833)
2013
2
Pseudohypoaldosteronism type 1: management issues. (23680607)
2013
3
Pseudohypoaldosteronism type 1: a rare cause of severe dyselectrolytemia and cardiovascular collapse in neonates. (24027733)
2012
4
Pathogenesis of pseudohypoaldosteronism type 2 by WNK1 mutations. (22080857)
2012
5
Unique eyelid manifestations in type 1 pseudohypoaldosteronism. (23080478)
2012
6
Novel mutation in the epithelial sodium channel causing type I pseudohypoaldosteronism in a patient misdiagnosed with cystic fibrosis. (22371258)
2012
7
Pseudohypoaldosteronism type 1 in an infant. (21789870)
2011
8
Critical points in the management of pseudohypoaldosteronism type 1. (21750640)
2011
9
Hook effect: a pitfall leading to misdiagnosis of hypoaldosteronism in an infant with pseudohypoaldosteronism. (20431271)
2010
10
A novel nonsense mutation of the mineralocorticoid receptor gene in the renal form of pseudohypoaldosteronism type 1. (19344080)
2009
11
A patient with pseudohypoaldosteronism type II caused by a novel mutation in WNK4 gene. (19016006)
2008
12
Two cases of transient pseudohypoaldosteronism due to group B streptococcus pyelonephritis. (18481108)
2008
13
Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes. (18634878)
2008
14
Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. (16972228)
2007
15
Type 2 pseudohypoaldosteronism: new insights into renal potassium, sodium, and chloride handling. (16997066)
2006
16
Pseudohypoaldosteronism type 1 and the genes encoding prostasin, alpha-spectrin, and Nedd4. (15547682)
2004
17
Pustular miliaria rubra: a specific cutaneous finding of type I pseudohypoaldosteronism. (12220275)
2002
18
Reversible secondary pseudohypoaldosteronism due to pyelonephritis. (12478361)
2002
19
Pseudohypoaldosteronism associated with ureterocele and upper pole moiety obstruction. (11377340)
2001
20
Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. (9662404)
1998
21
Familial pseudohypoaldosteronism. (9174729)
1997
22
Pseudohypoaldosteronism with normal blood pressure. (8869787)
1996
23
Disordered meibomian gland function in pseudohypoaldosteronism. (8694712)
1996
24
Pseudohypoaldosteronism: family studies to identify asymptomatic carriers by stimulation of the renin-aldosterone system. (8894667)
1996
25
Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. (8589714)
1996
26
A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. (8640238)
1996
27
Pseudohypoaldosteronism in a family with variable presentation. (8617562)
1995
28
Urinary steroid profile of a newborn suffering from pseudohypoaldosteronism. (7664464)
1995
29
Familial pseudohypoaldosteronism: a review on the heterogeneity of the syndrome. (7792804)
1995
30
Fetal pseudohypoaldosteronism: another cause of hydramnios. (7633160)
1995
31
The enigma of pseudohypoaldosteronism. (8027237)
1994
32
A partial form of pseudohypoaldosteronism type I without renal sodium wasting. (8186826)
1994
33
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
34
Physiological and molecular aspects of mineralocorticoid receptor action in pseudohypoaldosteronism: a responsiveness test and therapy. (7962269)
1994
35
Transient pseudohypoaldosteronism in obstructive renal disease with transient reduction of lymphocytic aldosterone receptors. Results in two affected infants. (8262477)
1993
36
Indomethacin and cation-exchange resin in the management of pseudohypoaldosteronism. (8419101)
1993
37
Pseudohypoaldosteronism in a preterm infant: intrauterine presentation as hydramnios. (1731010)
1992
38
Pseudohypoaldosteronism and mineralocorticoid receptor abnormalities. (1659876)
1991
39
Pseudohypoaldosteronism following resection of ileum and colon. (2739840)
1989
40
Inheritance of mineralocorticoid effector abnormalities of human mononuclear leucocytes in families with pseudohypoaldosteronism. (2627754)
1989
41
Pseudohypoaldosteronism: a review and report of two new cases. (3012977)
1986
42
Pseudohypoaldosteronism: decreased aldosterone levels with age without significant change in urinary sodium excretion. (3519007)
1986
43
Early childhood hyperkalemia: variety of pseudohypoaldosteronism. (3551490)
1986
44
Treatment of mineralocorticoid-resistant renal hyperkalemia with hypertension (type II pseudohypoaldosteronism). (3463275)
1986
45
Prostaglandin excretion in pseudohypoaldosteronism type I. (3535337)
1986
46
Explanation of the pseudohypoaldosteronism (PHA)-stress syndrome with an artificial aldosterone receptor model. (6231421)
1984
47
Pseudohypoaldosteronism. (6346858)
1983
48
Pseudohypoaldosteronism: severe salt wasting in infancy caused by generalized mineralocorticoid unresponsiveness. (7097421)
1982
49
Pseudohypoaldosteronism: multiple target organ unresponsiveness to mineralocorticoid hormones. (218983)
1979
50
Pseudohypoaldosteronism. (4783665)
1973

Variations for Pseudohypoaldosteronism

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Expression for genes affiliated with Pseudohypoaldosteronism

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2BioGPS, 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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50PathCards, 12EMD Millipore, 55Reactome, 30KEGG, 53QIAGEN, 60Thomson Reuters, 5Cell Signaling Technology, 51PharmGKB
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Pathways related to Pseudohypoaldosteronism according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5SCNN1B, SCNN1A
2
Show member pathways
9.5SCNN1A, SCNN1B
3
Show member pathways
9.5SCNN1A, SCNN1B
49.5SCNN1A, SCNN1B
59.5SCNN1A, SCNN1B
69.2WNK4, WNK1
78.9NR3C2, SCNN1A, SCNN1B
8
Show member pathways
8.3SCNN1B, SCNN1A, WNK1, WNK4
9
Show member pathways
8.3SCNN1B, SCNN1A, WNK1, WNK4
108.3WNK4, WNK1, SCNN1A, SCNN1B

Compounds for genes affiliated with Pseudohypoaldosteronism

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45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 51PharmGKB
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Compounds related to Pseudohypoaldosteronism according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chlorine45 2410.2WNK4, WNK1
2triamterene45 24 1111.1NR3C2, SCNN1A, SCNN1B
3amiloride45 29 1111.0SCNN1B, SCNN1A, NR3C2
4hydrochlorothiazide45 29 51 24 1112.9NR3C2, WNK1
5chloride458.6WNK1, WNK4, NR3C2
6thiazide458.4NR3C2, WNK4, WNK1, SCNN1A
7nacl458.3NR3C2, WNK4, WNK1, SCNN1A
8potassium45 24 1110.3NR3C2, WNK4, WNK1
9lysine458.1NR3C2, WNK4, WNK1, CUL3
10sodium45 248.8SCNN1B, SCNN1A, WNK1, WNK4, NR3C2

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
1external side of plasma membraneGO:0098979.5SCNN1A, SCNN1B
2sodium channel complexGO:0347069.2SCNN1A, SCNN1B

Biological processes related to Pseudohypoaldosteronism according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1multicellular organismal water homeostasisGO:0508919.7SCNN1B, SCNN1A
2sodium ion homeostasisGO:0550789.7SCNN1A, SCNN1B
3sensory perception of tasteGO:0509099.7SCNN1A, SCNN1B
4excretionGO:0075889.7SCNN1B, SCNN1A
5response to stimulusGO:0508969.6SCNN1A, SCNN1B
6sodium ion transportGO:0068149.5SCNN1A, SCNN1B
7ion transmembrane transportGO:0342209.5SCNN1A, SCNN1B
8sodium ion transmembrane transportGO:0357259.4SCNN1B, SCNN1A
9regulation of cellular processGO:0507949.4WNK4, WNK1
10negative regulation of pancreatic juice secretionGO:0901889.4WNK4, WNK1
11ion transportGO:0068118.9WNK4, WNK1

Molecular functions related to Pseudohypoaldosteronism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ligand-gated sodium channel activityGO:0152809.4SCNN1A, SCNN1B
2WW domain bindingGO:0506999.2SCNN1A, SCNN1B
3chloride channel inhibitor activityGO:0198699.2WNK4, WNK1
4protein bindingGO:0055157.1SCNN1A, CUL3, WNK1, WNK4, NR3C2, SCNN1B

Products for genes affiliated with Pseudohypoaldosteronism

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Sources for Pseudohypoaldosteronism

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet