MCID: PSD003
MIFTS: 42

Pseudohypoaldosteronism malady

Genetic diseases, Cardiovascular diseases, Nephrological diseases, Rare diseases, Fetal diseases categories

Summaries for Pseudohypoaldosteronism

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

MalaCards based summary: Pseudohypoaldosteronism is related to pseudohypoaldosteronism, type i and pseudohypoaldosteronism, type iie. 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 9 11 43 60


Classifications:



External Ids:

Disease Ontology9 DOID:4479
NCIt38 C85034
SNOMED-CT55 77098009
MeSH33 D011546

Related Diseases for Pseudohypoaldosteronism

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Diseases in the Pseudohypoaldosteronism family:

Pseudohypoaldosteronism, Type Iia Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism, Type Iid Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism, Type Iib Pseudohypoaldosteronism, Type I
Pseudohypoaldosteronism Type I, Autosomal Dominant Transient Pseudohypoaldosteronism

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

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoaldosteronism, type i31.2SCNN1B, SCNN1A
2pseudohypoaldosteronism, type iie30.5WNK4, WNK1, NR3C2
3liddle syndrome29.7NR3C2, SCNN1B, SCNN1A
4pseudohypoaldosteronism type i, autosomal dominant10.6
5transient pseudohypoaldosteronism10.6
6pseudohypoaldosteronism, type iid10.5
7pseudohypoaldosteronism, type iia10.4
8pseudohypoaldosteronism, type iic10.4
9pseudohypoaldosteronism, type iib10.4
10pyelonephritis10.3
11congenital adrenal hyperplasia10.3
12cystic fibrosis10.2
13miliaria rubra10.2
14miliaria10.2
15thrombocytosis10.1
16polyhydramnios10.1
17cholelithiasis10.1
18hypoaldosteronism10.1
19kidney disease10.0NR3C2, SCNN1B
20c syndrome10.0
21apparent mineralocorticoid excess10.0
22renal tubular acidosis10.0
23urethritis10.0
24acute pyelonephritis10.0
25ureterocele10.0
26vesicoureteral reflux10.0
27nephrocalcinosis10.0
28hydronephrosis10.0
29bronchopneumonia10.0
30down syndrome10.0
31gastroenteritis10.0
32hyperaldosteronism10.0
33pneumothorax10.0
34pyloric stenosis10.0
35urinary tract obstruction10.0
36familial hypertension10.0
37posterior urethral valves10.0
38proximal renal tubular acidosis10.0
39metabolic acidosis9.9NR3C2, WNK4
40hypertension, essential9.6WNK4, 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:

31
Colon, Lung, Skin, Kidney, Eye, Bone, Salivary gland, Testes

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.1NR3C2, WNK4, WNK1, SCNN1B
2MP:00053677.7SCNN1B, SCNN1A, WNK1, WNK4, NR3C2
3MP:00053787.6SCNN1B, SCNN1A, CUL3, WNK1, NR3C2
4MP:00053767.5SCNN1A, NR3C2, WNK4, WNK1, SCNN1B
5MP:00107687.3WNK1, CUL3, SCNN1A, SCNN1B, 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
Pustular miliaria rubra: a specific cutaneous finding of type I pseudohypoaldosteronism. (12220275)
2002
17
Reversible secondary pseudohypoaldosteronism due to pyelonephritis. (12478361)
2002
18
Pseudohypoaldosteronism associated with ureterocele and upper pole moiety obstruction. (11377340)
2001
19
Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. (9662404)
1998
20
Familial pseudohypoaldosteronism. (9174729)
1997
21
Pseudohypoaldosteronism with normal blood pressure. (8869787)
1996
22
Disordered meibomian gland function in pseudohypoaldosteronism. (8694712)
1996
23
Pseudohypoaldosteronism: family studies to identify asymptomatic carriers by stimulation of the renin-aldosterone system. (8894667)
1996
24
Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. (8589714)
1996
25
A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. (8640238)
1996
26
Pseudohypoaldosteronism in a family with variable presentation. (8617562)
1995
27
Urinary steroid profile of a newborn suffering from pseudohypoaldosteronism. (7664464)
1995
28
Familial pseudohypoaldosteronism: a review on the heterogeneity of the syndrome. (7792804)
1995
29
Fetal pseudohypoaldosteronism: another cause of hydramnios. (7633160)
1995
30
Pseudohypoaldosteronism following operative correction of unilateral obstructive nephropathy. (7656513)
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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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5SCNN1A, SCNN1B
2
Show member pathways
9.5SCNN1A, SCNN1B
39.5SCNN1A, SCNN1B
49.5SCNN1A, SCNN1B
59.2WNK4, WNK1
68.9NR3C2, SCNN1A, SCNN1B
7
Show member pathways
8.3SCNN1B, SCNN1A, WNK1, WNK4
8
Show member pathways
8.3SCNN1B, SCNN1A, WNK1, WNK4
98.3WNK4, WNK1, SCNN1A, SCNN1B

Compounds for genes affiliated with Pseudohypoaldosteronism

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Sources:
43Novoseek, 24HMDB, 12DrugBank, 28IUPHAR, 49PharmGKB
See all sources

Compounds related to Pseudohypoaldosteronism according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1chlorine43 2410.2WNK4, WNK1
2triamterene43 24 1211.1SCNN1B, NR3C2, SCNN1A
3amiloride43 28 1211.0SCNN1B, SCNN1A, NR3C2
4hydrochlorothiazide43 28 49 24 1212.9WNK1, NR3C2
5chloride438.6WNK4, WNK1, NR3C2
6thiazide438.4NR3C2, WNK4, SCNN1A, WNK1
7nacl438.3WNK4, WNK1, NR3C2, SCNN1A
8potassium43 24 1210.3NR3C2, WNK1, WNK4
9lysine438.1CUL3, NR3C2, WNK1, WNK4
10sodium43 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00098979.5SCNN1A, SCNN1B
2sodium channel complexGO:00347069.2SCNN1A, SCNN1B

Biological processes related to Pseudohypoaldosteronism according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1multicellular organismal water homeostasisGO:00508919.7SCNN1B, SCNN1A
2sodium ion homeostasisGO:00550789.7SCNN1B, SCNN1A
3sensory perception of tasteGO:00509099.7SCNN1B, SCNN1A
4excretionGO:00075889.7SCNN1A, SCNN1B
5response to stimulusGO:00508969.6SCNN1A, SCNN1B
6sodium ion transportGO:00068149.5SCNN1A, SCNN1B
7ion transmembrane transportGO:00342209.5SCNN1B, SCNN1A
8sodium ion transmembrane transportGO:00357259.4SCNN1A, SCNN1B
9regulation of cellular processGO:00507949.4WNK1, WNK4
10negative regulation of pancreatic juice secretionGO:00901889.4WNK4, WNK1
11ion transportGO:00068118.9WNK1, WNK4

Molecular functions related to Pseudohypoaldosteronism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ligand-gated sodium channel activityGO:00152809.4SCNN1A, SCNN1B
2WW domain bindingGO:00506999.2SCNN1A, SCNN1B
3chloride channel inhibitor activityGO:00198699.2WNK1, WNK4
4protein bindingGO:00055157.1SCNN1B, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet