MCID: PSD003
MIFTS: 42

Pseudohypoaldosteronism malady

Categories: Genetic diseases, Nephrological diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Pseudohypoaldosteronism

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Aliases & Descriptions for Pseudohypoaldosteronism:

Name: Pseudohypoaldosteronism 33 11 13 48 37 66

Classifications:



External Ids:

Disease Ontology11 DOID:4479
MeSH37 D011546
SNOMED-CT60 77098009
NCIt43 C85034

Summaries for Pseudohypoaldosteronism

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Wikipedia:69 Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism. However, the condition is... more...

MalaCards based summary: Pseudohypoaldosteronism is related to pseudohypoaldosteronism, type iie and pseudohypoaldosteronism, type iia. An important gene associated with Pseudohypoaldosteronism is NR3C2 (Nuclear Receptor Subfamily 3 Group C Member 2), and among its related pathways are CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) and Taste transduction. Affiliated tissues include lung, skin and kidney, and related mouse phenotypes are growth/size/body region and cardiovascular system.

Related Diseases for Pseudohypoaldosteronism

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Diseases in the Pseudohypoaldosteronism family:

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

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

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoaldosteronism, type iie33.6CUL3, WNK4
2pseudohypoaldosteronism, type iia33.5CUL3, KLHL3
3pseudohypoaldosteronism, type i12.4
4pseudohypoaldosteronism type i, autosomal dominant12.3
5pseudohypoaldosteronism, type iid12.2
6pseudohypoaldosteronism, type iic12.2
7pseudohypoaldosteronism, type iib12.2
8transient pseudohypoaldosteronism12.0
9pyelonephritis10.1
10congenital adrenal hyperplasia10.1
11collecting duct carcinoma10.0KCNJ1, NR3C2
12cystic fibrosis10.0
13miliaria rubra10.0
14miliaria10.0
15cholelithiasis9.9
16thrombocytosis9.9
17polyhydramnios9.9
18hypoaldosteronism9.9
19adenylosuccinase lyase deficiency9.8KLHL3, WNK1, WNK4
20c syndrome9.8
21liddle syndrome9.8
22apparent mineralocorticoid excess9.8
23renal tubular acidosis9.8
24hydronephrosis9.8
25bronchopneumonia9.8
26pyloric stenosis9.8
27nephrocalcinosis9.8
28urethritis9.8
29down syndrome9.8
30pneumothorax9.8
31gastroenteritis9.8
32ureterocele9.8
33hyperaldosteronism9.8
34urinary tract obstruction9.8
35acute pyelonephritis9.8
36vesicoureteral reflux9.8
37familial hypertension9.8
38posterior urethral valves9.8
39proximal renal tubular acidosis9.8
40aseptic osteitis9.8SCNN1A, SCNN1B, SCNN1G
41choanal atresia9.6SCNN1A, SCNN1B, SCNN1G
42bestrophinopathy9.6KCNJ1, SLC12A3
43congenital bilateral absence of vas deferens9.5SCNN1A, SCNN1B, SCNN1G
44bronchiectasis with or without elevated sweat chloride 29.5NR3C2, SCNN1A, SCNN1B, SCNN1G
45bronchiectasis with or without elevated sweat chloride 39.5NR3C2, SCNN1A, SCNN1B, SCNN1G
46familial hypopituitarism9.4CUL3, KLHL3, WNK1, WNK4
47central nervous system angiosarcoma9.4KCNJ1, SLC12A3
48episodic kinesigenic dyskinesia 29.2KCNJ1, SLC12A3
49dystonia 259.1NR3C2, SLC12A3, WNK1, WNK4
50hypertension, essential9.0NR3C2, SLC12A3, WNK1, WNK4

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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Drugs for Pseudohypoaldosteronism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
protease inhibitorsPhase 25157
Synonyms:
 
protease inhibitors
2
EnalaprilatPhase 211776420-72-96917719
Synonyms:
(2S)-1-[(2S)-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid
(2S)-1-[(2S)-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid dihydrate
1-((2S)-2-{[(1S)-1-CARBOXY-3-PHENYLPROPYL]AMINO}PROPANOYL)-L-PROLINE
1-(N-((S)-1-Carboxy-3-phenylpropyl)-L-alanyl)-L-proline dihydrate
76420-72-9
AC1NUWEA
AC1OCEK7
BIDD:GT0752
C11720
C18H24N2O5.2H2O
CHEBI:116759
CHEBI:42302
CHEBI:4786
CHEBI:59877
CHEMBL1200697
CHEMBL577
CID5462501
CID6917719
CPD000466359
D03769
EAL
ENALAPRILAT INHIBITOR
Enalapril acid
Enalapril diacid
Enalaprilat
Enalaprilat (USP)
 
Enalaprilat anhydrous
Enalaprilate
Enalaprilatum
Enalaprilic acid
Enalprilate hydrate
HMS2051H16
HMS2089P04
LS-118903
LS-187219
MK-422
MLS000759476
MLS001424138
MolPort-005-943-792
N-[(1S)-1-Carboxy-3-phenylpropyl]-L-alanyl-L-proline
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline--water (1/2)
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline—water (1/2)
NCGC00164593-01
S1657_Selleck
SAM001246684
SBB065733
SMR000466359
Vasotec I.V.
enalaprilat dihydrate
enalaprilat hydrate
enalprilat hydrate
enalprilate hydrate
3
EnalaprilPhase 211775847-73-35362032, 40466924
Synonyms:
(2S)-1-[(2S)-2-[[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid
(S)-1-(N-(1-(Ethoxycarbonyl)-3-phenylpropyl)-L-alanyl)-L-proline
(S)-1-{(S)-2-[1-((S)-ethoxycarbonyl)-3-phenyl-propylamino]-propionyl}-pyrrolidine-2-carboxylic acid
1-(N-((S)-1-Carboxy-3-phenylpropyl)-L-alanyl)-L-proline 1'-ethyl ester
75847-73-3
AC1NTUS5
Analapril
BIDD:GT0751
BPBio1_000340
BSPBio_000308
BSPBio_003035
Bonuten
C06977
CAS-76095-16-4
CHEBI:116847
CHEBI:4784
CHEMBL578
CID5388962
D07892
DivK1c_000408
Enalapril
Enalapril (INN)
Enalapril (TN)
Enalapril Bp
Enalapril Maleate
Enalapril Richet
Enalaprila
Enalaprila [INN-Spanish]
Enalaprilat
Enalaprilum
 
Enalaprilum [INN-Latin]
Gadopril
HMS2090E08
IDI1_000408
KBio1_000408
KBio2_001787
KBio2_004355
KBio2_006923
KBio3_002535
KBioGR_000355
KBioSS_001787
Kinfil
LS-190651
MolPort-002-885-877
N-[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]-L-alanyl-L-proline
N-{(1S)-1-[(ethyloxy)carbonyl]-3-phenylpropyl}-L-alanyl-L-proline
NCGC00016932-01
NCGC00021569-04
NCGC00021569-05
NCGC00021569-06
NINDS_000408
Prestwick3_000314
SPBio_001349
Spectrum2_001455
Spectrum3_001478
Spectrum4_000008
Spectrum5_001107
Spectrum_001307
Vaseretic
Vasotec
Vasotec IV
enalapril

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase II Study of the Pathophysiology and Treatment With Enalapril and Polystyrene Sulfonate for Pseudohypoaldosteronism, Type ICompletedNCT00004328Phase 2
2Cardiovascular Evaluation of Adult PHA 1 PatientsCompletedNCT00646828
3Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung DiseaseCompletedNCT00368446
4Rare Genetic Disorders of the Breathing AirwaysActive, not recruitingNCT00323167

Search NIH Clinical Center for Pseudohypoaldosteronism


Cochrane evidence based reviews: pseudohypoaldosteronism

Genetic Tests for Pseudohypoaldosteronism

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Anatomical Context for Pseudohypoaldosteronism

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MalaCards organs/tissues related to Pseudohypoaldosteronism:

34
Lung, Skin, Kidney, Colon, Testes, Bone, Salivary gland

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 Affected by disease

Animal Models for Pseudohypoaldosteronism or affiliated genes

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MGI Mouse Phenotypes related to Pseudohypoaldosteronism:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.0CUL3, KCNJ1, NR3C2, SCNN1A, SCNN1B, SCNN1G
2MP:00053856.8CUL3, KCNJ1, KLHL3, NR3C2, SCNN1B, SLC12A3
3MP:00053676.5KCNJ1, NR3C2, SCNN1A, SCNN1B, SCNN1G, SLC12A3
4MP:00053765.8CUL3, KCNJ1, KLHL3, NR3C2, SCNN1A, SCNN1B

Publications for Pseudohypoaldosteronism

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Articles related to Pseudohypoaldosteronism:

(show top 50)    (show all 256)
idTitleAuthorsYear
1
Secondary or Transient Pseudohypoaldosteronism Associated With Urinary Tract Anomaly and Urinary Infection: A Case Report. (27516976)
2016
2
Pseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia. (26904317)
2016
3
Reducing I+ENaC expression in the kidney connecting tubule induces pseudohypoaldosteronism type 1 symptoms during K+ loading. (26582762)
2016
4
Secondary pseudohypoaldosteronism causing cardiopulmonary arrest and cholelithiasis. (24730631)
2014
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
Unique eyelid manifestations in type 1 pseudohypoaldosteronism. (23080478)
2012
8
Novel mutation in the epithelial sodium channel causing type I pseudohypoaldosteronism in a patient misdiagnosed with cystic fibrosis. (22371258)
2012
9
Pseudohypoaldosteronism type 1 in an infant. (21789870)
2011
10
Phenotypes of pseudohypoaldosteronism type II caused by the WNK4 D561A missense mutation are dependent on the WNK-OSR1/SPAK kinase cascade. (21486947)
2011
11
Pseudohypoaldosteronism type 1 due to a novel mutation in the mineralocorticoid receptor gene. (20453518)
2010
12
A novel nonsense mutation of the mineralocorticoid receptor gene in the renal form of pseudohypoaldosteronism type 1. (19344080)
2009
13
A patient with pseudohypoaldosteronism type II caused by a novel mutation in WNK4 gene. (19016006)
2008
14
Suspected transient pseudohypoaldosteronism in a 10-day-old quarter horse foal. (18512462)
2008
15
Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. (16972228)
2007
16
Newborn with pseudohypoaldosteronism and miliaria rubra. (17184247)
2006
17
Secondary pseudohypoaldosteronism in an infant with pyelonephritis. (15777077)
2004
18
Pneumothorax and transient pseudohypoaldosteronism in an infant with hydronephrosis. (12488993)
2003
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 type 1 and respiratory distress syndrome. (12503866)
2002
22
Pseudohypoaldosteronism associated with ureterocele and upper pole moiety obstruction. (11377340)
2001
23
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
24
Pseudohypoaldosteronism type 1 and respiratory distress syndrome. (10955951)
2000
25
Salt restriction induces pseudohypoaldosteronism type 1 in mice expressing low levels of the beta-subunit of the amiloride-sensitive epithelial sodium channel. (9990093)
1999
26
Chronic Pseudomonas colonization of the skin, ear and eyes in a child with type I pseudohypoaldosteronism. (10342553)
1999
27
Congenital pseudohypoaldosteronism presenting in utero with acute polyhydramnios. (9584819)
1998
28
Familial pseudohypoaldosteronism. (9174729)
1997
29
Pseudohypoaldosteronism: family studies to identify asymptomatic carriers by stimulation of the renin-aldosterone system. (8894667)
1996
30
Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping. (8824886)
1996
31
Urinary steroid profile of a newborn suffering from pseudohypoaldosteronism. (7664464)
1995
32
Pseudohypoaldosteronism: options for consideration. (7792807)
1995
33
The enigma of pseudohypoaldosteronism. (8027237)
1994
34
A partial form of pseudohypoaldosteronism type I without renal sodium wasting. (8186826)
1994
35
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
36
Physiological and molecular aspects of mineralocorticoid receptor action in pseudohypoaldosteronism: a responsiveness test and therapy. (7962269)
1994
37
Indomethacin and cation-exchange resin in the management of pseudohypoaldosteronism. (8419101)
1993
38
Pseudohypoaldosteronism and mineralocorticoid receptor abnormalities. (1659876)
1991
39
Pseudohypoaldosteronism following resection of ileum and colon. (2739840)
1989
40
Pseudohypoaldosteronism--distinct disease or compensatory mechanism? (2619793)
1989
41
Familial salivary gland insensitivity to aldosterone: a variant of pseudohypoaldosteronism. (2625324)
1989
42
Pseudohypoaldosteronism: a review and report of two new cases. (3012977)
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
Explanation of the pseudohypoaldosteronism (PHA)-stress syndrome with an artificial aldosterone receptor model. (6231421)
1984
46
Coincidence of pseudohypoaldosteronism with gluten-enteropathy. (6389661)
1984
47
Pseudohypoaldosteronism. (6346858)
1983
48
Pseudohypoaldosteronism: severe salt wasting in infancy caused by generalized mineralocorticoid unresponsiveness. (7097421)
1982
49
Mineralocorticoid-resistant renal hyperkalemia without salt wasting (type II pseudohypoaldosteronism): role of increased renal chloride reabsorption. (7026872)
1981
50
Salt wasting, raised plasma-renin activity, and normal or high plasma-aldosterone: a form of pseudohypoaldosteronism. (4121586)
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 pathwaysScoreTop Affiliating Genes
19.1SCNN1A, SCNN1B, SCNN1G
2
Show member pathways
9.1SCNN1A, SCNN1B, SCNN1G
39.1SCNN1A, SCNN1B, SCNN1G
4
Show member pathways
8.2SCNN1A, SCNN1B, SCNN1G, SLC12A3
58.2KCNJ1, NR3C2, SCNN1A, SCNN1B, SCNN1G
6
Show member pathways
8.2SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4
7
Show member pathways
7.4SCNN1A, SCNN1B, SCNN1G, SLC12A3, WNK1, WNK4
86.9KCNJ1, SCNN1A, SCNN1B, SCNN1G, SLC12A3, WNK1

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
1Cul3-RING ubiquitin ligase complexGO:00314639.9CUL3, KLHL3
2sodium channel complexGO:00347069.6SCNN1A, SCNN1B, SCNN1G
3apical plasma membraneGO:00163248.2SCNN1A, SCNN1B, SCNN1G, SLC12A3

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1renal sodium ion absorptionGO:007029410.4KLHL3, WNK4
2distal tubule morphogenesisGO:007215610.4KLHL3, WNK4
3positive regulation of ion transmembrane transporter activityGO:003241410.2WNK1, WNK4
4negative regulation of pancreatic juice secretionGO:009018810.2WNK1, WNK4
5regulation of cellular processGO:005079410.2WNK1, WNK4
6regulation of ion homeostasisGO:200002110.2WNK1, WNK4
7ion homeostasisGO:005080110.0KLHL3, WNK4
8response to stimulusGO:00508969.7SCNN1A, SCNN1G
9multicellular organismal water homeostasisGO:00508919.6SCNN1A, SCNN1B, SCNN1G
10sensory perception of tasteGO:00509099.5SCNN1A, SCNN1B, SCNN1G
11excretionGO:00075889.3KCNJ1, SCNN1B, SCNN1G
12sodium ion homeostasisGO:00550789.1SCNN1A, SCNN1B, SCNN1G
13ion transmembrane transportGO:00342209.1SCNN1A, SCNN1B, SCNN1G
14sodium ion transportGO:00068148.9SCNN1B, SCNN1G, SLC12A3
15ion transportGO:00068118.8SLC12A3, WNK1, WNK4
16sodium ion transmembrane transportGO:00357258.6SCNN1A, SCNN1B, SCNN1G, SLC12A3

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

idNameGO IDScoreTop Affiliating Genes
1chloride channel inhibitor activityGO:00198699.5WNK1, WNK4
2ligand-gated sodium channel activityGO:00152809.1SCNN1A, SCNN1B, SCNN1G
3WW domain bindingGO:00506999.1SCNN1A, SCNN1B, SCNN1G

Sources for Pseudohypoaldosteronism

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet