MCID: PSD003
MIFTS: 46

Pseudohypoaldosteronism malady

Summaries for Pseudohypoaldosteronism

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64Wikipedia, 33MalaCards
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Wikipedia:64 Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism. However, the condition is... more...

MalaCards: Pseudohypoaldosteronism is related to pseudohypoaldosteronism type 1 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 colon, kidney and lung, and related mouse phenotypes are renal/urinary system and cardiovascular system.

Aliases & Classifications for Pseudohypoaldosteronism

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt
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Aliases & Descriptions:

pseudohypoaldosteronism 8 10 45 61


External Ids:

Disease Ontology8 DOID:4479
MeSH35 D011546
SNOMED-CT57 77098009
NCIt40 C85034

Related Diseases for Pseudohypoaldosteronism

Sources:
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 50)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoaldosteronism type 130.8SCNN1G, SCNN1A, SCNN1B
2autosomal recessive pseudohypoaldosteronism type 130.8SCNN1A, SCNN1B
3pseudohypoaldosteronism type ii30.7NR3C2, REN, WNK4, WNK1, SLC12A3
4cystic fibrosis30.2KCNJ1, PRSS8, SGK1, ASIC5
5hypoaldosteronism30.1REN
6liddle syndrome30.1KLHL3, SCNN1B, SCNN1A, SCNN1G, WNK4
7autosomal dominant pseudohypoaldosteronism type 110.6
8transient pseudohypoaldosteronism10.5
9pseudohypoaldosteronism type iib10.4
10pseudohypoaldosteronism type iid10.4
11pseudohypoaldosteronism type iic10.3
12congenital adrenal hyperplasia10.3
13pseudohypoaldosteronism type iie10.3
14pseudohypoaldosteronism, type iia10.3
15miliaria rubra10.2
16n syndrome10.2
17familial hypertension10.2
18thrombocytosis10.1
19acute pyelonephritis10.1
20polyhydramnios10.1
21bartter disease10.0KCNJ1
22apparent mineralocorticoid excess syndrome10.0NR3C2
23glucocorticoid-remediable aldosteronism10.0REN, NR3C2
24bartter syndrome, type 210.0REN, KCNJ1
25bartter syndrome type 310.0KCNJ1, REN, SLC12A3
26metabolic acidosis10.0SCNN1G, NR3C2, REN, WNK4
27conn's syndrome10.0NR3C2, REN
28gitelman syndrome10.0KCNJ1, REN, WNK1, SLC12A3
29hypokalemia10.0SLC12A3, REN, NR3C2, KCNJ1
30atherosclerosis10.0NR3C2, NR4A1
31adrenal gland hyperfunction10.0CYP21A2, NR3C2
32congestive heart failure10.0SGK1, REN, NR3C2
33diabetic nephropathy10.0SGK1, SLC12A3, REN, NR3C2
34cushing's syndrome10.0CYP21A2, REN
35hyperaldosteronism10.0KCNJ1, NR3C2, CYP21A2, REN, SLC12A3
36essential hypertension10.0NR3C2, REN, WNK4, WNK1, SLC12A3, SGK1
37primary hyperoxaluria10.0SLC12A3, REN, NR3C2, SCNN1B
38hypertension10.0SCNN1B, SCNN1A, SCNN1G, NR3C2, REN, WNK4
39hydronephrosis9.9
40ureterocele9.9
41nephrocalcinosis9.9
42renal tubular acidosis9.9
43bronchopneumonia9.9
44cholelithiasis9.9
45urinary tract obstruction9.9
46posterior urethral valves9.9
47posterior valve urethra9.9
48short stature9.9
49venous thrombosis9.9
50posterior urethral valve9.9

Graphical network of the top 20 diseases related to Pseudohypoaldosteronism:



Diseases related to pseudohypoaldosteronism

Clinical Features for Pseudohypoaldosteronism

Drugs & Therapeutics for Pseudohypoaldosteronism

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Anatomical Context for Pseudohypoaldosteronism

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

33
Colon, Kidney, Lung, Salivary gland, Adrenal gland, Skin, Fetal lung

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

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Pseudohypoaldosteronism

Sources:
51PubMed
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Articles related to Pseudohypoaldosteronism:

(show top 50)    (show all 237)
idTitleAuthorsYear
1
Pseudohypoaldosteronism Type II: History, Arguments, Answers, and Still Some Questions. (24396028)
2014
2
SPAK deficiency corrects pseudohypoaldosteronism II caused by WNK4 mutation. (24039833)
2013
3
Pseudohypoaldosteronism. (23392097)
2013
4
A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3. (23902721)
2013
5
Pathogenesis of pseudohypoaldosteronism type 2 by WNK1 mutations. (22080857)
2012
6
Critical points in the management of pseudohypoaldosteronism type 1. (21750640)
2011
7
Phenotypes of pseudohypoaldosteronism type II caused by the WNK4 D561A missense mutation are dependent on the WNK-OSR1/SPAK kinase cascade. (21486947)
2011
8
Mesenteric cyst in a neonate causing obstructive uropathy and secondary type 1 pseudohypoaldosteronism - a case report. (21771151)
2011
9
Mineralocorticoid receptor mutations and a severe recessive pseudohypoaldosteronism type 1. (21903996)
2011
10
A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene. (21503203)
2011
11
Hook effect: a pitfall leading to misdiagnosis of hypoaldosteronism in an infant with pseudohypoaldosteronism. (20431271)
2010
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
Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes. (18634878)
2008
15
Final diagnosis: transient pseudohypoaldosteronism (TPH) caused by UTI without concordant obstructive uropathy. (18476290)
2008
16
Molecular pathogenesis of pseudohypoaldosteronism type II: generation and analysis of a Wnk4(D561A/+) knockin mouse model. (17488636)
2007
17
Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. (16611713)
2006
18
Clinico-pathological analysis of the cutaneous lesions of a patient with type I pseudohypoaldosteronism. (15857472)
2005
19
Pseudohypoaldosteronism type 1 and the genes encoding prostasin, alpha-spectrin, and Nedd4. (15547682)
2004
20
A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1). (14715854)
2004
21
Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene. (15126534)
2004
22
Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. (12788847)
2003
23
Pseudohypoaldosteronism: kidney, lungs and colon. (12030904)
2002
24
Pseudohypoaldosteronism associated with ureterocele and upper pole moiety obstruction. (11377340)
2001
25
Pseudohypoaldosteronism: mineralocorticoid unresponsiveness syndrome. (10998851)
2000
26
A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. (10869238)
2000
27
Salt restriction induces pseudohypoaldosteronism type 1 in mice expressing low levels of the beta-subunit of the amiloride-sensitive epithelial sodium channel. (9990093)
1999
28
Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism. (10403853)
1999
29
Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel. (10586178)
1999
30
Congenital pseudohypoaldosteronism presenting in utero with acute polyhydramnios. (9584819)
1998
31
Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21. (9171836)
1997
32
Pseudohypoaldosteronism due to renal and multisystem resistance to mineralocorticoids respond differently to carbenoxolone. (9182864)
1997
33
Furosemide and dDAVP for the treatment of pseudohypoaldosteronism type II. (9492109)
1997
34
Pseudohypoaldosteronism in a family with variable presentation. (8617562)
1995
35
Pseudohypoaldosteronism following operative correction of unilateral obstructive nephropathy. (7656513)
1995
36
The enigma of pseudohypoaldosteronism. (8027237)
1994
37
An infant with pseudohypoaldosteronism accompanied by cholelithiasis. (8173013)
1994
38
Pseudohypoaldosteronism: molecular characterization of the mineralocorticoid receptor. (8027241)
1994
39
Hydramnios in pseudohypoaldosteronism versus hypoaldosteronism in neonates. (8345438)
1993
40
Pseudohypoaldosteronism Type II (22073419)
1993
41
Pseudohypoaldosteronism: case report and discussion of the syndrome. (1788991)
1991
42
Inheritance of mineralocorticoid effector abnormalities of human mononuclear leucocytes in families with pseudohypoaldosteronism. (2627754)
1989
43
Familial pseudohypoaldosteronism. (2967023)
1988
44
Prospective diagnosis of pseudohypoaldosteronism. (3529026)
1986
45
Explanation of the pseudohypoaldosteronism (PHA)-stress syndrome with an artificial aldosterone receptor model. (6231421)
1984
46
Pseudohypoaldosteronism. Response to long-term treatment with indomethacin. (7125695)
1982
47
Analysis of steroids in urine for differentiation of pseudohypoaldosteronism and aldosterone biosynthetic defect. (7033278)
1982
48
Multiple target involvement in pseudohypoaldosteronism. (448896)
1979
49
Pseudohypoaldosteronism, a proximal tubular sodium wasting disease. (633038)
1978
50
Salt wasting, raised plasma-renin activity, and normal or high plasma-aldosterone: a form of pseudohypoaldosteronism. (4121586)
1973

Genetic Variations for Pseudohypoaldosteronism

Expression for genes affiliated with Pseudohypoaldosteronism

Sources:
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

Sources:
50PharmGKB, 38NCBI BioSystems Database, 12EMD Millipore, 54Reactome, 30KEGG, 4Cell Signaling Technology, 52QIAGEN
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Compounds for genes affiliated with Pseudohypoaldosteronism

Sources:
45Novoseek, 60Tocris Bioscience, 29IUPHAR, 24HMDB, 11DrugBank, 50PharmGKB, 2BitterDB
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Compounds related to Pseudohypoaldosteronism according to GeneCards/GeneDecks:

(show all 42)
idCompoundScoreTop Affiliating Genes
1tetrahydroaldosterone4510.5REN, NR3C2
2ru 2675245 6011.5NR4A1, NR3C2
3deoxycorticosterone29 2411.5NR3C2, CYP21A2
4bendroflumethiazide45 1111.5REN, SLC12A3
5drospirenone45 50 29 1113.5NR3C2, REN
6cortisol29 2411.5NR3C2, CYP21A2
7metanephrine45 2411.4CYP21A2, REN
8eplerenone45 60 29 1113.4REN, NR3C2
9glycyrrhetinic acid45 2411.4NR3C2, REN
10fludrocortisone45 29 1112.4NR3C2, CYP21A2, REN
11doca4510.4NR3C2, CYP21A2, REN
12hydrochlorothiazide45 50 29 11 2414.4SLC12A3, REN, NR3C2
1311 deoxycortisol4510.4NR3C2, CYP21A2, REN
14triamterene45 11 2412.4SCNN1B, SCNN1A, SCNN1G, NR3C2
15aminoglutethimide45 1111.3CYP21A2, NR3C2
163beta-hydroxysteroid4510.3CYP21A2, NR3C2, NR4A1
17chlorine45 2411.2WNK4, WNK1, SLC12A3, SGK1
1811beta-hydroxysteroid4510.2NR3C2, CYP21A2, REN, SGK1
19catecholamine4510.2NR3C2, CYP21A2, REN
20corticosterone45 60 2412.2REN, CYP21A2, NR3C2, NR4A1
21haloperidol45 29 2 50 1114.2REN, NR3C2, NR4A1
22acth4510.1NR4A1, NR3C2, CYP21A2, REN
23glycyrrhizin45 2911.1REN, NR3C2
24thiazide4510.1SCNN1A, NR3C2, REN, WNK4, WNK1, SLC12A3
25amiloride45 29 1112.0SCNN1B, SCNN1A, SCNN1G, NR3C2, REN, ASIC5
26spironolactone50 45 60 29 1114.0NR4A1, NR3C2, CYP21A2, REN, SGK1
27hydrocortisone45 2 60 1113.0NR3C2, CYP21A2, REN
28magnesium45 11 2411.9KCNJ1, WNK2, WNK4, WNK3, WNK1
29aldosterone29 11 2411.9SGK1, NR3C2
30lysine459.9KCNJ1, NR3C2, WNK4, WNK1, CUL3, SLC12A3
31dexamethasone45 50 29 1112.8SCNN1A, NR4A1, NR3C2, CYP21A2, REN, SGK1
32chloride459.8KCNJ1, NR3C2, REN, WNK4, WNK1, SLC12A3
33threonine459.8NR4A1, CYP21A2, WNK4, WNK1, SLC12A3, SGK1
34alanine459.7KCNJ1, NEDD4, NR4A1, NR3C2, SLC12A3, SGK1
35Adenosine triphosphate11 2410.7NEDD4, WNK2, WNK4, WNK3, WNK1, SGK1
36steroid459.7NR4A1, NR3C2, CYP21A2, REN, SGK1
37potassium45 11 2411.7KCNJ1, PRSS8, NR3C2, REN, WNK4, WNK1
38nacl459.5KCNJ1, SCNN1A, NR3C2, CYP21A2, REN, WNK4
39tyrosine459.3SCNN1G, NR4A1, NR3C2, CYP21A2, WNK1, SGK1
40serine459.2KCNJ1, PRSS8, NR4A1, NR3C2, CYP21A2, WNK4
41calcium45 50 11 2412.2NEDD4, NR4A1, NR3C2, CYP21A2, REN, WNK1
42sodium45 249.5ASIC5, KCNJ1, SCNN1B, SCNN1A, SCNN1G, NEDD4

GO Terms for genes affiliated with Pseudohypoaldosteronism

Sources:
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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet