MCID: PSD003
MIFTS: 43

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 35 11 50 39 13 68

Classifications:



External Ids:

Disease Ontology11 DOID:4479
MeSH39 D011546
SNOMED-CT62 77098009
NCIt45 C85034

Summaries for Pseudohypoaldosteronism

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Wikipedia:71 Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism. However, the condition is... more...

MalaCards based summary: Pseudohypoaldosteronism is related to pseudohypoaldosteronism, type iia and pseudohypoaldosteronism, type iie. 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 Taste transduction. Affiliated tissues include lung, skin and kidney, and related mouse phenotypes are Increased cell death HMECs cells and growth/size/body region.

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 53)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoaldosteronism, type iia33.5CUL3, KLHL3
2pseudohypoaldosteronism, type iie33.5CUL3, WNK4
3pseudohypoaldosteronism, type i12.4
4pseudohypoaldosteronism type i, autosomal dominant12.2
5pseudohypoaldosteronism, type iid12.2
6pseudohypoaldosteronism, type iic12.1
7pseudohypoaldosteronism, type iib12.1
8transient pseudohypoaldosteronism11.9
9arthrogryposis, distal, type 310.8
10pyelonephritis10.0
11collecting duct carcinoma10.0KCNJ1, NR3C2
12cystic fibrosis9.9
13miliaria rubra9.9
14miliaria9.9
15c syndrome9.8
16cholelithiasis9.8
17thrombocytosis9.8
18polyhydramnios9.8
19hypoaldosteronism9.8
20adenylosuccinase lyase deficiency9.8KLHL3, WNK1, WNK4
21aseptic osteitis9.7SCNN1A, SCNN1B, SCNN1G
22liddle syndrome9.6
23apparent mineralocorticoid excess9.6
24renal tubular acidosis9.6
25hydronephrosis9.6
26bronchopneumonia9.6
27pyloric stenosis9.6
28nephrocalcinosis9.6
29urethritis9.6
30down syndrome9.6
31pneumothorax9.6
32gastroenteritis9.6
33ureterocele9.6
34hyperaldosteronism9.6
35urinary tract obstruction9.6
36acute pyelonephritis9.6
37hypopituitarism9.6
38vesicoureteral reflux9.6
39chromosome 4q deletion9.6
40familial hypertension9.6
41posterior urethral valves9.6
42proximal renal tubular acidosis9.6
43bestrophinopathy9.6KCNJ1, SLC12A3
44congenital bilateral absence of vas deferens9.6SCNN1A, SCNN1B, SCNN1G
45bronchiectasis with or without elevated sweat chloride 29.5NR3C2, SCNN1A, SCNN1B, SCNN1G
46bronchiectasis with or without elevated sweat chloride 39.5NR3C2, SCNN1A, SCNN1B, SCNN1G
47familial hypopituitarism9.5CUL3, KLHL3, WNK1, WNK4
48central nervous system angiosarcoma9.5KCNJ1, SLC12A3
49episodic kinesigenic dyskinesia 29.3KCNJ1, SLC12A3
50dystonia 259.2NR3C2, SLC12A3, WNK1, WNK4

Graphical network of the top 20 diseases related to Pseudohypoaldosteronism:



Diseases related to pseudohypoaldosteronism

Symptoms & Phenotypes for Pseudohypoaldosteronism

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GenomeRNAi Phenotypes related to Pseudohypoaldosteronism according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00103-A-09.2CUL3, KLHL3, NR3C2, WNK1, WNK4

MGI Mouse Phenotypes related to Pseudohypoaldosteronism according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.9CUL3, KCNJ1, NR3C2, SCNN1A, SCNN1B, SCNN1G
2MP:00053857.6CUL3, KCNJ1, KLHL3, NR3C2, SCNN1B, SLC12A3
3MP:00053676.8KCNJ1, NR3C2, SCNN1A, SCNN1B, SCNN1G, SLC12A3
4MP:00053766.5CUL3, KCNJ1, KLHL3, NR3C2, SCNN1A, SCNN1B

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
EnalaprilatapprovedPhase 212076420-72-96917719
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
2
Enalaprilapproved, vet_approvedPhase 212075847-73-35362032, 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
3
protease inhibitorsPhase 25320
Synonyms:
 
protease inhibitors
4Angiotensin-Converting Enzyme InhibitorsPhase 2711
5HIV Protease InhibitorsPhase 25319
6Chelating AgentsPhase 21365
7Antihypertensive AgentsPhase 24095
8Mineralocorticoids352
9Hormones, Hormone Substitutes, and Hormone Antagonists12767
10Hormone Antagonists12778
11Hormones13979

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:

36
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

Publications for Pseudohypoaldosteronism

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Articles related to Pseudohypoaldosteronism:

(show top 50)    (show all 259)
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
A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation. (27780982)
2016
5
A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1. (27780983)
2016
6
Pseudohypoaldosteronism type 1 due to novel variants of SCNN1B gene. (26807262)
2016
7
A novel NR3C2 mutation in a Japanese patient with the renal form of pseudohypoaldosteronism type 1. (27507913)
2016
8
A novel frameshift mutation in NR3C2 leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1. (27725360)
2016
9
Severe systemic Type 1 pseudohypoaldosteronism: 5 years of evolution. (27651040)
2016
10
Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2. (26594094)
2015
11
Pseudohypoaldosteronism in a newborn male with functional polymorphisms in the mineralocorticoid receptor genes. (26817011)
2015
12
Pseudohypoaldosteronism type 1 and Liddle's syndrome mutations that affect the single-channel properties of the epithelial Na+ channel. (26537344)
2015
13
Dermal and Ophthalmic Findings in Pseudohypoaldosteronism. (26316441)
2015
14
Generation and analysis of knock-in mice carrying pseudohypoaldosteronism type II-causing mutations in the cullin 3 gene. (26490675)
2015
15
Pseudohypoaldosteronism Type 1 (arPHA1) Treated With Sodium Polystyrene Sulfonate Pretreated Milk. (27335941)
2015
16
Secondary pseudohypoaldosteronism causing cardiopulmonary arrest and cholelithiasis. (24730631)
2014
17
Pseudohypoaldosteronism type-I: a rare cause of hyperkalemia in neonates. (24864655)
2014
18
Pseudohypoaldosteronism type 1 secondary to vesicoureteral reflux: An endocrinologic emergency. (25043099)
2014
19
Pseudohypoaldosteronism Type II: History, Arguments, Answers, and Still Some Questions. (24396028)
2014
20
Ocular and skin manifestations in systemic pseudohypoaldosteronism. (24654255)
2014
21
Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point. (25548639)
2014
22
Pseudohypoaldosteronism in a neonate presenting as life-threatening arrhythmia. (24688761)
2014
23
A case of SCNN1A splicing mutation presenting as mild systemic pseudohypoaldosteronism type 1. (23813355)
2013
24
Autosomal dominant pseudohypoaldosteronism type 1 in an infant with salt wasting crisis associated with urinary tract infection and obstructive uropathy. (24455331)
2013
25
CUL3 gene analysis enables early intervention for pediatric pseudohypoaldosteronism type II in infancy. (23689903)
2013
26
Pseudohypoaldosteronism without nephropathy masking salt-wasting congenital adrenal hyperplasia genetically confirmed. (23370958)
2013
27
Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1. (23416952)
2013
28
Clinical and molecular analysis of six Japanese patients with a renal form of pseudohypoaldosteronism type 1. (23197115)
2013
29
A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3. (23902721)
2013
30
SPAK deficiency corrects pseudohypoaldosteronism II caused by WNK4 mutation. (24039833)
2013
31
Pseudohypoaldosteronism type 1: management issues. (23680607)
2013
32
Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant. (23327809)
2013
33
Pseudohypoaldosteronism type 1: clinical features and management in infancy. (24616761)
2013
34
Pseudohypoaldosteronism. (23392097)
2013
35
Novel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1. (23762408)
2013
36
A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene. (23031435)
2013
37
An inducible transgenic mouse model for familial hypertension with hyperkalaemia (Gordon's syndrome or pseudohypoaldosteronism type II). (23336180)
2013
38
A molecular update on pseudohypoaldosteronism type II. (24107425)
2013
39
Pseudohypoaldosteronism type 1: a rare cause of severe dyselectrolytemia and cardiovascular collapse in neonates. (24027733)
2012
40
Pathogenesis of pseudohypoaldosteronism type 2 by WNK1 mutations. (22080857)
2012
41
Unique eyelid manifestations in type 1 pseudohypoaldosteronism. (23080478)
2012
42
Novel mutation in the epithelial sodium channel causing type I pseudohypoaldosteronism in a patient misdiagnosed with cystic fibrosis. (22371258)
2012
43
A novel splice site mutation of the beta subunit gene of epithelial sodium channel (ENaC) in one Turkish patient with a systemic form of pseudohypoaldosteronism Type 1. (23426840)
2012
44
Neonatal renal venous thrombosis followed by secondary pseudohypoaldosteronism. (23279027)
2012
45
Pseudohypoaldosteronism masquerading as congenital adrenal hyperplasia. (21638072)
2012
46
Syndromes of impaired ion handling in the distal nephron: pseudohypoaldosteronism and familial hyperkalemic hypertension. (22450343)
2012
47
Secondary pseudohypoaldosteronism caused by urinary tract infection associated with urinary tract abnormalities: case reports. (23692802)
2012
48
Miliaria rubra and thrombocytosis in pseudohypoaldosteronism: case report. (22150373)
2012
49
Pseudohypoaldosteronism type 2 presenting with hypertension and hyperkalaemia due to a novel mutation in the WNK4 gene. (21764813)
2012
50
Secondary pseudohypoaldosteronism caused by urinary tract infection associated with urinary tract anomalies: case reports. (22397047)
2012

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
8.6SCNN1A, 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:00314639.6CUL3, KLHL3
2sodium channel complexGO:00347069.1SCNN1A, SCNN1B, SCNN1G
3apical plasma membraneGO:00163249.1SCNN1A, SCNN1B, SCNN1G, SLC12A3

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1distal tubule morphogenesisGO:007215610.5KLHL3, WNK4
2ion homeostasisGO:005080110.5KLHL3, WNK4
3negative regulation of pancreatic juice secretionGO:009018810.5WNK1, WNK4
4positive regulation of ion transmembrane transporter activityGO:003241410.5WNK1, WNK4
5regulation of cellular processGO:005079410.5WNK1, WNK4
6regulation of ion homeostasisGO:200002110.5WNK1, WNK4
7renal sodium ion absorptionGO:007029410.4KLHL3, WNK4
8response to stimulusGO:005089610.1SCNN1A, SCNN1G
9ion transportGO:00068119.9SLC12A3, WNK1, WNK4
10ion transmembrane transportGO:00342209.9SCNN1A, SCNN1B, SCNN1G
11multicellular organismal water homeostasisGO:00508919.8SCNN1A, SCNN1B, SCNN1G
12sensory perception of tasteGO:00509099.7SCNN1A, SCNN1B, SCNN1G
13sodium ion homeostasisGO:00550789.7SCNN1A, SCNN1B, SCNN1G
14excretionGO:00075889.4KCNJ1, SCNN1B, SCNN1G
15sodium ion transmembrane transportGO:00357259.2SCNN1A, SCNN1B, SCNN1G, SLC12A3
16sodium ion transportGO:00068149.0SCNN1B, SCNN1G, SLC12A3

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

idNameGO IDScoreTop Affiliating Genes
1chloride channel inhibitor activityGO:001986910.2WNK1, WNK4
2ligand-gated sodium channel activityGO:00152809.5SCNN1A, SCNN1B, SCNN1G
3WW domain bindingGO:00506999.1SCNN1A, SCNN1B, SCNN1G

Sources for Pseudohypoaldosteronism

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet