MCID: PSD003
MIFTS: 40

Pseudohypoaldosteronism malady

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

Aliases & Classifications for Pseudohypoaldosteronism

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Aliases & Descriptions for Pseudohypoaldosteronism:

Name: Pseudohypoaldosteronism 32 10 47 12 65 36


Classifications:



External Ids:

Disease Ontology10 DOID:4479
MeSH36 D011546
SNOMED-CT59 77098009
NCIt42 C85034

Summaries for Pseudohypoaldosteronism

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Wikipedia:68 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 iia. An important gene associated with Pseudohypoaldosteronism is WNK4 (WNK Lysine Deficient Protein Kinase 4), and among its related pathways are NO-dependent CFTR activation (normal and CF) and CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF). Affiliated tissues include colon, skin and lung, and related mouse phenotypes are cardiovascular system and mortality/aging.

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 56)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoaldosteronism, type i30.9NR3C2, SCNN1A, SCNN1B, SCNN1G
2pseudohypoaldosteronism, type iia30.9CUL3, KLHL3
3pseudohypoaldosteronism, type iie30.7CUL3, KLHL3, WNK1, WNK4
4cystic fibrosis30.0SCNN1A, SCNN1B, SCNN1G
5urinary tract obstruction29.2KCNJ1, SCNN1B, SCNN1G, SLC12A3
6pseudohypoaldosteronism type i, autosomal dominant10.7
7transient pseudohypoaldosteronism10.6
8pseudohypoaldosteronism, type iid10.6
9pseudohypoaldosteronism, type iic10.5
10pseudohypoaldosteronism, type iib10.5
11pyelonephritis10.4
12congenital adrenal hyperplasia10.3
13miliaria rubra10.2
14miliaria10.2
15thrombocytosis10.1
16cholelithiasis10.1
17polyhydramnios10.1
18hypoaldosteronism10.1
19paraganglioma10.1KLHL3, WNK4
20anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.0
21c syndrome10.0
22liddle syndrome10.0
23apparent mineralocorticoid excess10.0
24renal tubular acidosis10.0
25bronchopneumonia10.0
26urethritis10.0
27hydronephrosis10.0
28primary hyperoxaluria10.0
29nephrocalcinosis10.0
30vesicoureteral reflux10.0
31down syndrome10.0
32ureterocele10.0
33acute pyelonephritis10.0
34brucellosis10.0
35gastroenteritis10.0
36hyperaldosteronism10.0
37kidney disease10.0
38pneumothorax10.0
39pyloric stenosis10.0
40renal tubular transport disease10.0
41urinary system disease10.0
42familial hypertension10.0
43posterior urethral valves10.0
44proximal renal tubular acidosis10.0
45retinal ischemia10.0NR3C2, SCNN1G
46pulmonary nodular lymphoid hyperplasia9.9SCNN1A, SCNN1B, SCNN1G
47bartter syndrome, type 39.9KCNJ1, SLC12A3
48spontaneous ocular nystagmus9.9SCNN1A, SCNN1B, SCNN1G
49cervical endometrioid adenocarcinoma9.9KCNJ1, SLC12A3
50anisomastia9.8KCNJ1, SLC12A3

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
EnalaprilapprovedPhase 210475847-73-35362032, 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
2
EnalaprilatPhase 210476420-72-96917719
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)
NCGC00164593-01
S1657_Selleck
SAM001246684
SBB065733
SMR000466359
Vasotec I.V.
enalprilat hydrate
3Mineralocorticoids294

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:

33
Colon, Skin, Lung, Kidney, 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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.9KCNJ1, NR3C2, SCNN1B, SLC12A3, WNK1, WNK4
2MP:00107687.2CUL3, KCNJ1, NR3C2, SCNN1A, SCNN1B, SCNN1G
3MP:00053787.2CUL3, KCNJ1, NR3C2, SCNN1A, SCNN1B, SCNN1G
4MP:00053677.0KCNJ1, NR3C2, SCNN1A, SCNN1B, SCNN1G, SLC12A3
5MP:00053766.5KCNJ1, NR3C2, SCNN1A, SCNN1B, SCNN1G, SLC12A3

Publications for Pseudohypoaldosteronism

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Articles related to Pseudohypoaldosteronism:

(show top 50)    (show all 246)
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
Two cases of transient pseudohypoaldosteronism due to group B streptococcus pyelonephritis. (18481108)
2008
12
Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes. (18634878)
2008
13
Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. (16972228)
2007
14
Type 2 pseudohypoaldosteronism: new insights into renal potassium, sodium, and chloride handling. (16997066)
2006
15
Pseudohypoaldosteronism type 1 and the genes encoding prostasin, alpha-spectrin, and Nedd4. (15547682)
2004
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
19.1SCNN1A, SCNN1B, SCNN1G
29.1SCNN1A, SCNN1B, SCNN1G
3
Show member pathways
9.1SCNN1A, SCNN1B, SCNN1G
4
Show member pathways
8.6SCNN1A, SCNN1B, SCNN1G, SLC12A3
5
Show member pathways
8.4SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4
68.0KCNJ1, NR3C2, SCNN1A, SCNN1B, SCNN1G
7
Show member pathways
7.9SCNN1A, SCNN1B, SCNN1G, SLC12A3, WNK1, WNK4
87.1KCNJ1, 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:00314639.8CUL3, KLHL3
2sodium channel complexGO:00347069.8SCNN1A, SCNN1B, SCNN1G
3external side of plasma membraneGO:00098979.4SCNN1A, SCNN1B, SCNN1G
4apical plasma membraneGO:00163248.3SCNN1A, SCNN1B, SCNN1G, SLC12A3
5integral component of plasma membraneGO:00058877.8KCNJ1, SCNN1A, SCNN1B, SCNN1G, SLC12A3

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1regulation of cellular processGO:005079410.4WNK1, WNK4
2negative regulation of pancreatic juice secretionGO:009018810.4WNK1, WNK4
3distal tubule morphogenesisGO:007215610.3KLHL3, WNK4
4chloride transportGO:00068219.9SLC12A3, WNK4
5ion homeostasisGO:00508019.8KLHL3, WNK4
6potassium ion importGO:00101079.6KCNJ1, SLC12A3
7multicellular organismal water homeostasisGO:00508919.6SCNN1A, SCNN1B, SCNN1G
8sensory perception of tasteGO:00509099.6SCNN1A, SCNN1B, SCNN1G
9renal sodium ion absorptionGO:00702949.5KCNJ1, KLHL3, WNK4
10ion transmembrane transportGO:00342209.4SCNN1A, SCNN1B, SCNN1G
11ion transportGO:00068119.4SLC12A3, WNK1, WNK4
12sodium ion homeostasisGO:00550789.2SCNN1A, SCNN1B, SCNN1G, SLC12A3
13response to stimulusGO:00508969.2SCNN1A, SCNN1G
14sodium ion transmembrane transportGO:00357259.1SCNN1A, SCNN1B, SCNN1G, SLC12A3
15sodium ion transportGO:00068148.8SCNN1A, SCNN1B, SCNN1G, SLC12A3
16transmembrane transportGO:00550858.6SCNN1A, SCNN1B, SCNN1G, SLC12A3
17excretionGO:00075888.6KCNJ1, NR3C2, SCNN1B, SCNN1G

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

idNameGO IDScoreTop Affiliating Genes
1chloride channel inhibitor activityGO:00198699.7WNK1, WNK4
2ligand-gated sodium channel activityGO:00152809.3SCNN1A, SCNN1B, SCNN1G
3sodium channel activityGO:00052729.2SCNN1A, SCNN1B, SCNN1G
4WW domain bindingGO:00506999.1SCNN1A, SCNN1B, SCNN1G

Sources for Pseudohypoaldosteronism

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet