MCID: PSD003
MIFTS: 43

Pseudohypoaldosteronism

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

Aliases & Classifications for Pseudohypoaldosteronism

MalaCards integrated aliases for Pseudohypoaldosteronism:

Name: Pseudohypoaldosteronism 38 12 29 52 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:4479
MeSH 42 D011546
NCIt 47 C85034
SNOMED-CT 64 77098009
UMLS 69 C0033805

Summaries for Pseudohypoaldosteronism

MalaCards based summary : Pseudohypoaldosteronism is related to pseudohypoaldosteronism, type iia and pseudohypoaldosteronism, type i. An important gene associated with Pseudohypoaldosteronism is NR3C2 (Nuclear Receptor Subfamily 3 Group C Member 2), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Enalapril and Enalaprilat have been mentioned in the context of this disorder. Affiliated tissues include Kidney, lung and colon, and related phenotypes are Increased cell death HMECs cells and cardiovascular system

Wikipedia : 72 Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism. However, the condition is... more...

Related Diseases for Pseudohypoaldosteronism

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 61)
id Related Disease Score Top Affiliating Genes
1 pseudohypoaldosteronism, type iia 33.5 CUL3 KLHL3
2 pseudohypoaldosteronism, type i 12.4
3 pseudohypoaldosteronism type i, autosomal dominant 12.3
4 pseudohypoaldosteronism, type iie 12.2
5 pseudohypoaldosteronism, type iid 12.1
6 pseudohypoaldosteronism, type iic 12.1
7 pseudohypoaldosteronism, type iib 12.1
8 transient pseudohypoaldosteronism 11.9
9 pyelonephritis 10.0
10 congenital adrenal hyperplasia 10.0
11 encephalopathy due to defective mitochondrial and peroxisomal fission 2 9.9 CUL3 KLHL3 WNK4
12 retinal vein occlusion 9.9 NR3C2 SCNN1G
13 miliaria 9.9
14 miliaria rubra 9.9
15 cystic fibrosis 9.9
16 thrombocytosis 9.8
17 cholelithiasis 9.8
18 polyhydramnios 9.8
19 c syndrome 9.8
20 hypoaldosteronism 9.8
21 mazabraud syndrome 9.8 SCNN1A SCNN1B SCNN1G
22 venezuelan equine encephalitis 9.7 SCNN1A SCNN1B SCNN1G
23 bestrophinopathy 9.7 KCNJ1 SLC12A3
24 bartter syndrome, type 3 9.6 KCNJ1 SLC12A3
25 nephrocalcinosis 9.6
26 posterior urethral valves 9.6
27 urethritis 9.6
28 proximal renal tubular acidosis 9.6
29 liddle syndrome 9.6
30 apparent mineralocorticoid excess 9.6
31 pneumothorax 9.6
32 down syndrome 9.6
33 gastroenteritis 9.6
34 hypoprothrombinemia 9.6
35 ureterocele 9.6
36 renal tubular acidosis 9.6
37 hyperaldosteronism 9.6
38 urinary tract obstruction 9.6
39 thrombosis 9.6
40 acute pyelonephritis 9.6
41 hydronephrosis 9.6
42 hypopituitarism 9.6
43 vesicoureteral reflux 9.6
44 chromosome 4q deletion 9.6
45 bronchopneumonia 9.6
46 familial hypertension 9.6
47 pyloric stenosis 9.6
48 astrakhan spotted fever 9.6 KCNJ1 SLC12A3
49 hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy 9.5 NR3C2 SCNN1A SCNN1B SCNN1G
50 spondyloepimetaphyseal dysplasia, faden-alkuraya type 9.5 KCNJ1 SLC12A3

Graphical network of the top 20 diseases related to Pseudohypoaldosteronism:



Diseases related to Pseudohypoaldosteronism

Symptoms & Phenotypes for Pseudohypoaldosteronism

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 9.02 WNK4 CUL3 KLHL3 NR3C2 WNK1

MGI Mouse Phenotypes related to Pseudohypoaldosteronism:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.86 CUL3 KCNJ1 KLHL3 NR3C2 SCNN1B SLC12A3
2 growth/size/body region MP:0005378 9.7 CUL3 KCNJ1 NR3C2 SCNN1A SCNN1B SCNN1G
3 homeostasis/metabolism MP:0005376 9.65 CUL3 KCNJ1 KLHL3 NR3C2 SCNN1A SCNN1B
4 renal/urinary system MP:0005367 9.23 SCNN1G SLC12A3 WNK1 WNK4 KCNJ1 NR3C2

Drugs & Therapeutics for Pseudohypoaldosteronism

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

(show all 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Enalapril Approved, Vet_approved Phase 2 75847-73-3 5362032 40466924
2
Enalaprilat Approved Phase 2 76420-72-9 6917719
3 Angiotensin-Converting Enzyme Inhibitors Phase 2
4 Antihypertensive Agents Phase 2
5 Chelating Agents Phase 2
6 HIV Protease Inhibitors Phase 2
7 Polystyrene sulfonic acid Phase 2
8
protease inhibitors Phase 2
9 Hormone Antagonists
10 Hormones
11 Hormones, Hormone Substitutes, and Hormone Antagonists
12 Mineralocorticoids

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Phase II Study of the Pathophysiology and Treatment With Enalapril and Polystyrene Sulfonate for Pseudohypoaldosteronism, Type I Completed NCT00004328 Phase 2 enalapril;polystyrene sulfonate
2 Cardiovascular Evaluation of Adult PHA 1 Patients Completed NCT00646828
3 Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease Completed NCT00368446
4 Rare Genetic Disorders of the Breathing Airways Active, not recruiting NCT00323167

Search NIH Clinical Center for Pseudohypoaldosteronism

Genetic Tests for Pseudohypoaldosteronism

Genetic tests related to Pseudohypoaldosteronism:

id Genetic test Affiliating Genes
1 Pseudohypoaldosteronism 29

Anatomical Context for Pseudohypoaldosteronism

MalaCards organs/tissues related to Pseudohypoaldosteronism:

39
Lung, Colon, Kidney, Skin, 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 Tissue Anatomical CompartmentCell Relevance
1 Kidney Distal Tubule Distal Tubule Cells Affected by disease

Publications for Pseudohypoaldosteronism

Articles related to Pseudohypoaldosteronism:

(show top 50) (show all 270)
id Title Authors Year
1
WNK4 is indispensable for the pathogenesis of pseudohypoaldosteronism type II caused by mutant KLHL3. ( 28743496 )
2017
2
Transient pseudohypoaldosteronism in infancy secondary to urinary tract infection. ( 28233358 )
2017
3
An infant presenting with failure to thrive and hyperkalaemia owing to transient pseudohypoaldosteronism: case report. ( 28557682 )
2017
4
Clinical Manifestation and Molecular Analysis of Three Korean Patients with the Renal Form of Pseudohypoaldosteronism Type 1. ( 28249922 )
2017
5
Pseudohypoaldosteronism types I and II: little more than a name in common. ( 28593901 )
2017
6
TNF Lectin-Like Domain Restores Epithelial Sodium Channel Function in Frameshift Mutants Associated with Pseudohypoaldosteronism Type 1B. ( 28611771 )
2017
7
Clinical features and molecular basis of pseudohypoaldosteronism type 1. ( 28804203 )
2017
8
Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature. ( 28484659 )
2017
9
Restoration of Epithelial Sodium Channel Function by Synthetic Peptides in Pseudohypoaldosteronism Type 1B Mutants. ( 28286482 )
2017
10
Congenital Jejunal Membrane Causing Transient Pseudohypoaldosteronism and Hypoprothrombinemia in a 7-Week-Old Infant. ( 28806843 )
2017
11
KLHL3 Knockout Mice Reveal the Physiological Role of KLHL3 and the Pathophysiology of Pseudohypoaldosteronism Type II Caused by Mutant KLHL3. ( 28052936 )
2017
12
Severe systemic Type 1 pseudohypoaldosteronism: 5 years of evolution. ( 27651040 )
2016
13
A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1. ( 27780983 )
2016
14
A novel NR3C2 mutation in a Japanese patient with the renal form of pseudohypoaldosteronism type 1. ( 27507913 )
2016
15
Pseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia. ( 26904317 )
2016
16
Secondary or Transient Pseudohypoaldosteronism Associated With Urinary Tract Anomaly and Urinary Infection: A Case Report. ( 27516976 )
2016
17
Pseudohypoaldosteronism type 1 due to novel variants of SCNN1B gene. ( 26807262 )
2016
18
A novel frameshift mutation in NR3C2 leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1. ( 27725360 )
2016
19
A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation. ( 27780982 )
2016
20
Reducing I+ENaC expression in the kidney connecting tubule induces pseudohypoaldosteronism type 1 symptoms during K+ loading. ( 26582762 )
2016
21
Generation and analysis of knock-in mice carrying pseudohypoaldosteronism type II-causing mutations in the cullin 3 gene. ( 26490675 )
2015
22
Dermal and Ophthalmic Findings in Pseudohypoaldosteronism. ( 26316441 )
2015
23
Pseudohypoaldosteronism in a newborn male with functional polymorphisms in the mineralocorticoid receptor genes. ( 26817011 )
2015
24
Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2. ( 26594094 )
2015
25
Pseudohypoaldosteronism type 1 and Liddle's syndrome mutations that affect the single-channel properties of the epithelial Na+ channel. ( 26537344 )
2015
26
Pseudohypoaldosteronism Type 1 (arPHA1) Treated With Sodium Polystyrene Sulfonate Pretreated Milk. ( 27335941 )
2015
27
Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point. ( 25548639 )
2014
28
Pseudohypoaldosteronism type-I: a rare cause of hyperkalemia in neonates. ( 24864655 )
2014
29
Ocular and skin manifestations in systemic pseudohypoaldosteronism. ( 24654255 )
2014
30
Pseudohypoaldosteronism type 1 secondary to vesicoureteral reflux: An endocrinologic emergency. ( 25043099 )
2014
31
Secondary pseudohypoaldosteronism causing cardiopulmonary arrest and cholelithiasis. ( 24730631 )
2014
32
Pseudohypoaldosteronism Type II: History, Arguments, Answers, and Still Some Questions. ( 24396028 )
2014
33
Pseudohypoaldosteronism in a neonate presenting as life-threatening arrhythmia. ( 24688761 )
2014
34
Pseudohypoaldosteronism without nephropathy masking salt-wasting congenital adrenal hyperplasia genetically confirmed. ( 23370958 )
2013
35
Pseudohypoaldosteronism. ( 23392097 )
2013
36
A case of SCNN1A splicing mutation presenting as mild systemic pseudohypoaldosteronism type 1. ( 23813355 )
2013
37
Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1. ( 23416952 )
2013
38
An inducible transgenic mouse model for familial hypertension with hyperkalaemia (Gordon's syndrome or pseudohypoaldosteronism type II). ( 23336180 )
2013
39
A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene. ( 23031435 )
2013
40
Autosomal dominant pseudohypoaldosteronism type 1 in an infant with salt wasting crisis associated with urinary tract infection and obstructive uropathy. ( 24455331 )
2013
41
Pseudohypoaldosteronism type 1: clinical features and management in infancy. ( 24616761 )
2013
42
CUL3 gene analysis enables early intervention for pediatric pseudohypoaldosteronism type II in infancy. ( 23689903 )
2013
43
A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3. ( 23902721 )
2013
44
A molecular update on pseudohypoaldosteronism type II. ( 24107425 )
2013
45
SPAK deficiency corrects pseudohypoaldosteronism II caused by WNK4 mutation. ( 24039833 )
2013
46
Pseudohypoaldosteronism type 1: management issues. ( 23680607 )
2013
47
Clinical and molecular analysis of six Japanese patients with a renal form of pseudohypoaldosteronism type 1. ( 23197115 )
2013
48
Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant. ( 23327809 )
2013
49
Novel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1. ( 23762408 )
2013
50
Miliaria rubra and thrombocytosis in pseudohypoaldosteronism: case report. ( 22150373 )
2012

Variations for Pseudohypoaldosteronism

ClinVar genetic disease variations for Pseudohypoaldosteronism:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NR3C2 NM_000901.4(NR3C2): c.1409C> A (p.Ser470Ter) single nucleotide variant Pathogenic rs879255348 GRCh37 Chromosome 4, 149356604: 149356604

Expression for Pseudohypoaldosteronism

Search GEO for disease gene expression data for Pseudohypoaldosteronism.

Pathways for Pseudohypoaldosteronism

Pathways related to Pseudohypoaldosteronism according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 SCNN1A SCNN1B SCNN1G SLC12A3 WNK1 WNK4
2
Show member pathways
12.3 SCNN1A SCNN1B SCNN1G SLC12A3
3
Show member pathways
12.15 SCNN1A SCNN1B SCNN1G WNK1 WNK4
4
Show member pathways
11.7 SCNN1A SCNN1B SCNN1G
5 11.04 SCNN1A SCNN1B SCNN1G
6 10.92 KCNJ1 NR3C2 SCNN1A SCNN1B SCNN1G
7 10.63 KCNJ1 SCNN1A SCNN1B SCNN1G SLC12A3 WNK1
8 10.45 SCNN1A SCNN1B SCNN1G

GO Terms for Pseudohypoaldosteronism

Cellular components related to Pseudohypoaldosteronism according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.81 CUL3 KCNJ1 NR3C2 SCNN1A SCNN1B SCNN1G
2 apical plasma membrane GO:0016324 9.26 SCNN1A SCNN1B SCNN1G SLC12A3
3 sodium channel complex GO:0034706 8.8 SCNN1A SCNN1B SCNN1G

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.71 SCNN1A SCNN1B SCNN1G
2 sensory perception of taste GO:0050909 9.63 SCNN1A SCNN1B SCNN1G
3 sodium ion transport GO:0006814 9.62 SCNN1A SCNN1B SCNN1G SLC12A3
4 excretion GO:0007588 9.61 KCNJ1 SCNN1B SCNN1G
5 sodium ion transmembrane transport GO:0035725 9.56 SCNN1A SCNN1B SCNN1G SLC12A3
6 ion homeostasis GO:0050801 9.51 KLHL3 WNK4
7 negative regulation of pancreatic juice secretion GO:0090188 9.49 WNK1 WNK4
8 renal sodium ion absorption GO:0070294 9.48 KLHL3 WNK4
9 distal tubule morphogenesis GO:0072156 9.4 KLHL3 WNK4
10 regulation of cellular process GO:0050794 9.37 WNK1 WNK4
11 sodium ion homeostasis GO:0055078 9.33 SCNN1A SCNN1B SCNN1G
12 ion transport GO:0006811 9.17 KCNJ1 SCNN1A SCNN1B SCNN1G SLC12A3 WNK1
13 multicellular organismal water homeostasis GO:0050891 9.13 SCNN1A SCNN1B SCNN1G
14 transport GO:0006810 10 CUL3 KCNJ1 SCNN1A SCNN1B SCNN1G SLC12A3

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

id Name GO ID Score Top Affiliating Genes
1 chloride channel inhibitor activity GO:0019869 9.16 WNK1 WNK4
2 WW domain binding GO:0050699 9.13 SCNN1A SCNN1B SCNN1G
3 ligand-gated sodium channel activity GO:0015280 8.8 SCNN1A SCNN1B SCNN1G

Sources for Pseudohypoaldosteronism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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