MCID: PSD003
MIFTS: 49

Pseudohypoaldosteronism malady

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

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

MalaCards based summary: 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 skin, and related mouse phenotypes are cardiovascular system and renal/urinary system.

Aliases & Classifications for Pseudohypoaldosteronism

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Pseudohypoaldosteronism, Aliases & Descriptions:

Name: Pseudohypoaldosteronism 30 8 10 44 62


Classifications:



External Ids:

Disease Ontology8 DOID:4479
MeSH34 D011546
SNOMED-CT57 77098009
NCIt39 C85034

Related Diseases for Pseudohypoaldosteronism

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Diseases in the Pseudohypoaldosteronism Type Ii family:

pseudohypoaldosteronism Pseudohypoaldosteronism Type Iib
Pseudohypoaldosteronism Type Iic 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 41)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoaldosteronism type 131.4SCNN1B, SCNN1A
2pseudohypoaldosteronism type ii30.7WNK4, WNK1, NR3C2
3liddle syndrome29.7NR3C2, SCNN1B, SCNN1A
4hypertension29.5WNK4, WNK1, SCNN1A, SCNN1B, NR3C2
5autosomal dominant pseudohypoaldosteronism type 110.7
6autosomal recessive pseudohypoaldosteronism type 110.6
7transient pseudohypoaldosteronism10.6
8pseudohypoaldosteronism type iib10.5
9pseudohypoaldosteronism type iid10.4
10pyelonephritis10.3
11pseudohypoaldosteronism type iic10.3
12congenital adrenal hyperplasia10.3
13pseudohypoaldosteronism, type iia10.3
14cystic fibrosis10.2
15miliaria rubra10.2
16miliaria10.2
17thrombocytosis10.1
18cholelithiasis10.1
19polyhydramnios10.1
20hypoaldosteronism10.1
21primary hyperoxaluria10.0NR3C2, SCNN1B
22renal tubular acidosis10.0
23down syndrome10.0
24urethritis10.0
25acute pyelonephritis10.0
26vesicoureteral reflux10.0
27nephrocalcinosis10.0
28bronchopneumonia10.0
29ureterocele10.0
30hydronephrosis10.0
31gastroenteritis10.0
32hyperaldosteronism10.0
33pneumothorax10.0
34pyloric stenosis10.0
35urinary tract obstruction10.0
36familial hypertension10.0
37posterior urethral valves10.0
38short stature10.0
39venous thrombosis10.0
40metabolic acidosis9.9NR3C2, WNK4
41essential hypertension9.6WNK4, WNK1, NR3C2

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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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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MalaCards organs/tissues related to Pseudohypoaldosteronism:

32
Colon, Lung, Skin, Kidney, 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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MGI Mouse Phenotypes related to Pseudohypoaldosteronism:

36
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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Articles related to Pseudohypoaldosteronism:

(show top 50)    (show all 242)
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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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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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
9.5SCNN1B, SCNN1A
3
Show member pathways
9.5SCNN1B, SCNN1A
49.5SCNN1A, SCNN1B
59.5SCNN1A, SCNN1B
69.2WNK1, WNK4
78.9NR3C2, SCNN1B, SCNN1A
8
Show member pathways
8.3WNK4, WNK1, SCNN1A, SCNN1B
9
Show member pathways
8.3SCNN1A, SCNN1B, WNK4, WNK1
108.3WNK4, WNK1, SCNN1A, SCNN1B

Compounds for genes affiliated with Pseudohypoaldosteronism

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 50PharmGKB
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Compounds related to Pseudohypoaldosteronism according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chlorine44 2410.2WNK4, WNK1
2triamterene44 24 1111.1NR3C2, SCNN1A, SCNN1B
3amiloride44 28 1111.0SCNN1B, SCNN1A, NR3C2
4hydrochlorothiazide44 28 50 24 1112.9NR3C2, WNK1
5chloride448.6WNK1, WNK4, NR3C2
6thiazide448.4NR3C2, WNK4, WNK1, SCNN1A
7nacl448.3NR3C2, WNK4, WNK1, SCNN1A
8potassium44 24 1110.3NR3C2, WNK4, WNK1
9lysine448.1NR3C2, WNK4, WNK1, CUL3
10sodium44 248.8SCNN1B, SCNN1A, WNK1, WNK4, NR3C2

GO Terms for genes affiliated with Pseudohypoaldosteronism

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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:0198699.2WNK1, WNK4
4protein bindingGO:0055157.1SCNN1B, SCNN1A, CUL3, WNK1, WNK4, NR3C2

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet