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 32 10 47 12 36 65

Classifications:



External Ids:

Disease Ontology10 DOID:4479
MeSH36 D011546
SNOMED-CT59 77098009
NCIt42 C85034
UMLS65 C0033805

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 iie 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 lung, bone and endothelial, and related mouse phenotypes are growth/size/body region and renal/urinary 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 224)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoaldosteronism, type iie34.2CUL3, WNK4
2pseudohypoaldosteronism, type iia34.0CUL3, KLHL3
3pseudohypoaldosteronism, type i12.7
4pseudohypoaldosteronism type i, autosomal dominant12.7
5pseudohypoaldosteronism, type iid12.6
6pseudohypoaldosteronism, type iic12.6
7pseudohypoaldosteronism, type iib12.6
8transient pseudohypoaldosteronism12.2
9breast cancer10.3
10neuronitis10.3
11prostate cancer10.2
12prostatitis10.2
13endotheliitis10.2
14retinitis10.1
15schizophrenia10.1
16colorectal cancer10.1
17hiv-110.1
18hepatocellular carcinoma10.1
19aspergillosis10.1
20retinoblastoma10.1
21pancreatic cancer10.1
22leukemia10.1
23sinusitis10.1
24allergic bronchopulmonary aspergillosis10.1
25cholestasis10.1
26ovarian cancer10.1
27cervicitis10.1
28long qt syndrome10.1
29cerebritis10.1
30tuberculosis10.1
31pancreatitis10.1
32pneumonia10.1
33thyroiditis10.1
34candida glabrata10.1
35rheumatoid arthritis9.9
36lung cancer9.9
37asthma9.9
38long qt syndrome 99.9
39alzheimer disease9.9
40celiac disease9.9
41psoriatic arthritis9.9
42polycystic liver disease9.9
43weaver syndrome9.9
44wolff-parkinson-white syndrome9.9
45usher syndrome, type 1d9.9
46otitis media9.9
47machado-joseph disease9.9
48cerebral amyloid angiopathy9.9
49melnick-needles syndrome9.9
50pulmonary hypertension9.9

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):

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EnalaprilapprovedPhase 211275847-73-35362032, 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
2Angiotensin-Converting Enzyme InhibitorsPhase 2634
3Protease InhibitorsPhase 24558
4
EnalaprilatPhase 211276420-72-96917719
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
5HIV Protease InhibitorsPhase 24558
6Chelating AgentsPhase 2667
7Antihypertensive AgentsPhase 23618
8Mineralocorticoids301
9Hormones, Hormone Substitutes, and Hormone Antagonists9988
10Hormone Antagonists10002
11Hormones11748

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
Lung, Bone, Endothelial, Skin, Breast, T cells, Bone marrow

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:00053787.1CUL3, KCNJ1, NR3C2, SCNN1A, SCNN1B, SCNN1G
2MP:00053677.0KCNJ1, NR3C2, SCNN1A, SCNN1B, SCNN1G, SLC12A3
3MP:00053856.7CUL3, KCNJ1, KLHL3, NR3C2, SCNN1B, SLC12A3
4MP:00053765.9CUL3, KCNJ1, KLHL3, NR3C2, SCNN1A, SCNN1B

Publications for Pseudohypoaldosteronism

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Articles related to Pseudohypoaldosteronism:

(show top 50)    (show all 247)
idTitleAuthorsYear
1
Isolated ileitis associated with primary sclerosing cholangitis in three patients with Crohn's disease. (26806276)
2016
2
Flavonoids of Korean Citrus aurantium L. Induce Apoptosis via Intrinsic Pathway in Human Hepatoblastoma HepG2 Cells. (26439681)
2015
3
Identification of telomere dysfunction in Friedreich ataxia. (26059974)
2015
4
Vaginal Sampling of Amniotic Fluid in pPROM: A New Technique for Early Detection of Subclinical Chorioamnionitis? (25026907)
2014
5
A high-throughput functional complementation assay for classification of BRCA1 missense variants. (23867111)
2013
6
Isoflurane increases neuronal cell death vulnerability by downregulating miR-214. (23408966)
2013
7
Association between UGT1A1*28 polymorphisms and clinical outcomes of irinotecan-based chemotherapies in colorectal cancer: a meta-analysis in Caucasians. (23516488)
2013
8
Solomonsterol a, a marine pregnane-x-receptor agonist, attenuates inflammation and immune dysfunction in a mouse model of arthritis. (24368568)
2013
9
Factors exacerbating peripheral neuropathy induced by paclitaxel plus carboplatin in non-small cell lung cancer. (23461065)
2012
10
Eag1 channels as potential cancer biomarkers. (22778627)
2012
11
Risk of end-stage renal disease associated with gout: a nationwide population study. (22513212)
2012
12
Role of procalcitonin and C-reactive protein in differentiation of mixed bacterial infection from 2009 H1N1 viral pneumonia. (21668682)
2011
13
Hydrophobic fractions from Strongyloides venezuelensis for use in the human immunodiagnosis of strongyloidiasis. (20356696)
2010
14
Amyloid beta: a putative intra-spinal microtubule-depolymerizer to induce synapse-loss or dentritic spine shortening in Alzheimer's disease. (20198823)
2009
15
Genetic heterogeneity in ADHD: DAT1 gene only affects probands without CD. (18553640)
2008
16
Regulatory T cells prevent control of experimental African trypanosomiasis. (18250461)
2008
17
Virulence potential of Staphylococcus aureus strains isolated from diabetic foot ulcers: a new paradigm. (18809632)
2008
18
Clinical significance of chemosensitivity in chronic heart failure: influence on neurohormonal derangement, Cheyne-Stokes respiration and arrhythmias. (17961123)
2008
19
The influence of 5-HTTLPR and STin2 polymorphisms in the serotonin transporter gene on treatment effect of selective serotonin reuptake inhibitors in depressive patients. (18628680)
2008
20
An infant case of macroprolactinemia with transient idiopathic central precocious puberty. (17785914)
2007
21
Association of CYP2D6 and ADRB1 genes with hypotensive and antichronotropic action of betaxolol in patients with arterial hypertension. (17635183)
2007
22
Adult autoimmune enteropathy: Mayo Clinic Rochester experience. (17683994)
2007
23
Nna1-like proteins are active metallocarboxypeptidases of a new and diverse M14 subfamily. (17244817)
2007
24
Tissue factor and tumor: clinical and laboratory aspects. (16139825)
2006
25
Evaluation of peroxisome proliferator-activated receptor-gamma expression in benign and malignant thyroid pathologies. (16187907)
2005
26
Innate mechanisms for Bifidobacterium lactis to activate transient pro-inflammatory host responses in intestinal epithelial cells after the colonization of germ-free rats. (16011513)
2005
27
Aphthous stomatitis induced by piroxicam. (15034523)
2004
28
The role of collagen and elastin in aged skin: an image processing approach. (15036271)
2004
29
Risk assessment of listeriosis linked to the consumption of two soft cheeses made from raw milk: Camembert of Normandy and Brie of Meaux. (15078309)
2004
30
Calcitonin gene-related peptide indirectly inhibits IL-7 responses in pre-B cells by induction of IL-6 and TNF-alpha in bone marrow. (14962494)
2003
31
Analysis of p53/BAX in primary colorectal carcinoma: low BAX protein expression is a negative prognostic factor in UICC stage III tumors. (11992551)
2002
32
Binding, degradation and apoptotic activity of stearoylethanolamide in rat C6 glioma cells. (12010121)
2002
33
Solution structure of betacellulin, a new member of EGF-family ligands. (12074582)
2002
34
Control of trophectoderm differentiation by inner cell mass-derived fibroblast growth factor-4 in mouse blastocysts and corrective effect of FGF-4 on high glucose-induced trophoblast disruption. (11550266)
2001
35
Mental development after modified pi procedure: dynamic cranioplasty for sagittal synostosis. (11324885)
2001
36
Genetic susceptibility and environmental estrogen-like compounds. (11535251)
2001
37
Cloning and characterization of human oncostatin M promoter. (10556323)
1999
38
Non-Hodgkin's lymphomas and myeloid disorders: deletions associated with t(2;5) and t(3;5) detected by FISH. (9665204)
1998
39
Critical illness polyneuropathy due to parenteral nutrition. (9310819)
1997
40
Intravascular ultrasonography of an adolescent boy with a coronary artery aneurysm due to Kawasaki disease. (9326692)
1997
41
Association of CD24 with the kinase c-fgr in a small cell lung cancer cell line and with the kinase lyn in an erythroleukemia cell line. (8753773)
1996
42
Interaction of hyperventilation and arousal in the pathogenesis of idiopathic central sleep apnea. (8049835)
1994
43
Desensitization of D1 dopamine receptors down-regulates the Gs alpha subunit of G protein in SK-N-MC neuroblastoma cells. (8105856)
1993
44
A one-step sandwich enzyme immunoassay for human matrix metalloproteinase 1 (interstitial collagenase) using monoclonal antibodies. (8306449)
1993
45
Localization of the human GM-CSF receptor beta chain gene (CSF2RB) to chromosome 22q12.2-->q13.1. (1424804)
1992
46
The effect of the aldose reductase inhibitor, ponalrestat, on the progression of diabetic retinopathy. (1611137)
1992
47
Linkage relationships of the protein kinase C gamma gene which exclude it as a candidate for myotonic dystrophy. (2460293)
1988
48
Malignant somatostatinoma presenting with diabetic ketoacidosis. (2822297)
1987
49
Necrotizing sialometaplasia. (7242209)
1981
50
Chronic thromboembolic pulmonary hypertension following ventriculo-atrial shunting. (282858)
1978

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
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
1sodium channel complexGO:00347069.8SCNN1A, SCNN1B, SCNN1G
2external side of plasma membraneGO:00098979.6SCNN1B, SCNN1G
3plasma membraneGO:00058868.3KCNJ1, SCNN1A, SCNN1B, SCNN1G

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of pancreatic juice secretionGO:009018810.3WNK1, WNK4
2response to stimulusGO:00508969.8SCNN1A, SCNN1G
3excretionGO:00075889.8SCNN1B, SCNN1G
4ion homeostasisGO:00508019.7KLHL3, WNK4
5sodium ion homeostasisGO:00550789.7SCNN1A, SCNN1B, SCNN1G
6transmembrane transportGO:00550858.3SCNN1A, SCNN1B, SCNN1G, SLC12A3

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