MCID: PSD003
MIFTS: 47

Pseudohypoaldosteronism

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

Aliases & Classifications for Pseudohypoaldosteronism

MalaCards integrated aliases for Pseudohypoaldosteronism:

Name: Pseudohypoaldosteronism 37 12 72 28 51 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:4479
MeSH 41 D011546
NCIt 46 C85034
SNOMED-CT 64 77098009
UMLS 69 C0033805

Summaries for Pseudohypoaldosteronism

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/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 skin, 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 I, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Recessive Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism, Type Iic Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism, Type Iie Transient Pseudohypoaldosteronism

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

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 pseudohypoaldosteronism, type iie 33.9 CUL3 KLHL3
2 pseudohypoaldosteronism, type iia 33.8 CUL3 KLHL3
3 pseudohypoaldosteronism, type i, autosomal recessive 33.2 NR3C2 SCNN1A SCNN1B SCNN1G
4 pseudohypoaldosteronism, type i, autosomal dominant 33.2 NR3C2 SCNN1A SCNN1B SCNN1G
5 arthrogryposis, distal, type 3 30.3 NR3C2 SLC12A3 WNK1 WNK4
6 cystic fibrosis 29.3 SCNN1A SCNN1B SCNN1G
7 renal tubular acidosis 29.3 NR3C2 SCNN1G
8 bartter disease 29.1 KCNJ1 SLC12A3
9 liddle syndrome 28.9 NR3C2 SCNN1A SCNN1B SCNN1G
10 familial hypertension 28.6 CUL3 KLHL3 NR3C2 WNK1 WNK4
11 pseudohypoaldosteronism, type iid 12.4
12 pseudohypoaldosteronism, type iib 12.2
13 pseudohypoaldosteronism, type iic 12.2
14 transient pseudohypoaldosteronism 12.0
15 blood group, i system 10.2
16 pyelonephritis 10.1
17 lipoid congenital adrenal hyperplasia 10.1
18 fibrosis of extraocular muscles, congenital, 1 9.9
19 hypercalciuria, absorptive, 2 9.9
20 miliaria rubra 9.9
21 miliaria 9.9
22 cat eye syndrome 9.9
23 cholelithiasis 9.9
24 thrombocytosis 9.9
25 polyhydramnios 9.9
26 hypoaldosteronism 9.9
27 metabolic acidosis 9.8 KLHL3 WNK4
28 idiopathic bronchiectasis 9.8 SCNN1A SCNN1B SCNN1G
29 bronchiectasis 9.8 SCNN1A SCNN1B SCNN1G
30 renal tubular acidosis, proximal 9.7
31 thrombophilia due to thrombin defect 9.7
32 down syndrome 9.7
33 ureterocele 9.7
34 vesicoureteral reflux 1 9.7
35 apparent mineralocorticoid excess 9.7
36 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 9.7
37 aging 9.7
38 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
39 thrombosis 9.7
40 hydronephrosis 9.7
41 bronchopneumonia 9.7
42 pyloric stenosis 9.7
43 nephrocalcinosis 9.7
44 urethritis 9.7
45 pneumothorax 9.7
46 gastroenteritis 9.7
47 urinary tract obstruction 9.7
48 acute pyelonephritis 9.7
49 hypopituitarism 9.7
50 chromosome 4q deletion 9.7

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 9.02 CUL3 KLHL3 NR3C2 WNK1 WNK4

MGI Mouse Phenotypes related to Pseudohypoaldosteronism:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.86 SLC12A3 WNK1 CUL3 WNK4 KCNJ1 KLHL3
2 growth/size/body region MP:0005378 9.7 WNK1 CUL3 KCNJ1 NR3C2 SCNN1A SCNN1B
3 homeostasis/metabolism MP:0005376 9.65 SLC12A3 WNK1 CUL3 WNK4 KCNJ1 KLHL3
4 renal/urinary system MP:0005367 9.23 SLC12A3 WNK1 WNK4 KCNJ1 NR3C2 SCNN1A

Drugs & Therapeutics for Pseudohypoaldosteronism

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Enalapril Approved, Vet_approved Phase 2 75847-73-3 40466924 5362032
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:


# 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:

# Genetic test Affiliating Genes
1 Pseudohypoaldosteronism 28

Anatomical Context for Pseudohypoaldosteronism

MalaCards organs/tissues related to Pseudohypoaldosteronism:

38
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:
# 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 272)
# Title Authors Year
1
Loss of I^ Epithelial Sodium Channel Function in Meibomian Glands Produces Pseudohypoaldosteronism 1-Like Ocular Disease in Mice. ( 29107074 )
2018
2
Clinical Manifestation and Molecular Analysis of Three Korean Patients with the Renal Form of Pseudohypoaldosteronism Type 1. ( 28249922 )
2017
3
Restoration of Epithelial Sodium Channel Function by Synthetic Peptides in Pseudohypoaldosteronism Type 1B Mutants. ( 28286482 )
2017
4
Transient pseudohypoaldosteronism in infancy secondary to urinary tract infection. ( 28233358 )
2017
5
Pseudohypoaldosteronism types I and II: little more than a name in common. ( 28593901 )
2017
6
Transient Pseudohypoaldosteronism Caused by Intestinal Abnormalities. ( 29237184 )
2017
7
WNK4 is indispensable for the pathogenesis of pseudohypoaldosteronism type II caused by mutant KLHL3. ( 28743496 )
2017
8
TNF Lectin-Like Domain Restores Epithelial Sodium Channel Function in Frameshift Mutants Associated with Pseudohypoaldosteronism Type 1B. ( 28611771 )
2017
9
Clinical features and molecular basis of pseudohypoaldosteronism type 1. ( 28804203 )
2017
10
KLHL3 Knockout Mice Reveal the Physiological Role of KLHL3 and the Pathophysiology of Pseudohypoaldosteronism Type II Caused by Mutant KLHL3. ( 28052936 )
2017
11
An infant presenting with failure to thrive and hyperkalaemia owing to transient pseudohypoaldosteronism: case report. ( 28557682 )
2017
12
Congenital Jejunal Membrane Causing Transient Pseudohypoaldosteronism and Hypoprothrombinemia in a 7-Week-Old Infant. ( 28806843 )
2017
13
Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature. ( 28484659 )
2017
14
Reducing I+ENaC expression in the kidney connecting tubule induces pseudohypoaldosteronism type 1 symptoms during K+ loading. ( 26582762 )
2016
15
Severe systemic Type 1 pseudohypoaldosteronism: 5 years of evolution. ( 27651040 )
2016
16
Pseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia. ( 26904317 )
2016
17
A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation. ( 27780982 )
2016
18
Pseudohypoaldosteronism type 1 due to novel variants of SCNN1B gene. ( 26807262 )
2016
19
A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1. ( 27780983 )
2016
20
Secondary or Transient Pseudohypoaldosteronism Associated With Urinary Tract Anomaly and Urinary Infection: A Case Report. ( 27516976 )
2016
21
A novel frameshift mutation in NR3C2 leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1. ( 27725360 )
2016
22
A novel NR3C2 mutation in a Japanese patient with the renal form of pseudohypoaldosteronism type 1. ( 27507913 )
2016
23
Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2. ( 26594094 )
2015
24
Pseudohypoaldosteronism in a newborn male with functional polymorphisms in the mineralocorticoid receptor genes. ( 26817011 )
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
Generation and analysis of knock-in mice carrying pseudohypoaldosteronism type II-causing mutations in the cullin 3 gene. ( 26490675 )
2015
28
Dermal and Ophthalmic Findings in Pseudohypoaldosteronism. ( 26316441 )
2015
29
Pseudohypoaldosteronism Type II: History, Arguments, Answers, and Still Some Questions. ( 24396028 )
2014
30
Pseudohypoaldosteronism in a neonate presenting as life-threatening arrhythmia. ( 24688761 )
2014
31
Pseudohypoaldosteronism type 1 secondary to vesicoureteral reflux: An endocrinologic emergency. ( 25043099 )
2014
32
Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point. ( 25548639 )
2014
33
Secondary pseudohypoaldosteronism causing cardiopulmonary arrest and cholelithiasis. ( 24730631 )
2014
34
Pseudohypoaldosteronism type-I: a rare cause of hyperkalemia in neonates. ( 24864655 )
2014
35
Ocular and skin manifestations in systemic pseudohypoaldosteronism. ( 24654255 )
2014
36
Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant. ( 23327809 )
2013
37
An inducible transgenic mouse model for familial hypertension with hyperkalaemia (Gordon's syndrome or pseudohypoaldosteronism type II). ( 23336180 )
2013
38
SPAK deficiency corrects pseudohypoaldosteronism II caused by WNK4 mutation. ( 24039833 )
2013
39
Pseudohypoaldosteronism without nephropathy masking salt-wasting congenital adrenal hyperplasia genetically confirmed. ( 23370958 )
2013
40
A molecular update on pseudohypoaldosteronism type II. ( 24107425 )
2013
41
Pseudohypoaldosteronism. ( 23392097 )
2013
42
Autosomal dominant pseudohypoaldosteronism type 1 in an infant with salt wasting crisis associated with urinary tract infection and obstructive uropathy. ( 24455331 )
2013
43
A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene. ( 23031435 )
2013
44
A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3. ( 23902721 )
2013
45
Pseudohypoaldosteronism type 1: management issues. ( 23680607 )
2013
46
Pseudohypoaldosteronism type 1: clinical features and management in infancy. ( 24616761 )
2013
47
Clinical and molecular analysis of six Japanese patients with a renal form of pseudohypoaldosteronism type 1. ( 23197115 )
2013
48
A case of SCNN1A splicing mutation presenting as mild systemic pseudohypoaldosteronism type 1. ( 23813355 )
2013
49
Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1. ( 23416952 )
2013
50
CUL3 gene analysis enables early intervention for pediatric pseudohypoaldosteronism type II in infancy. ( 23689903 )
2013

Variations for Pseudohypoaldosteronism

ClinVar genetic disease variations for Pseudohypoaldosteronism:

6
# 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.81 CUL3 KCNJ1 NR3C2 SCNN1A SCNN1B SCNN1G
2 Cul3-RING ubiquitin ligase complex GO:0031463 9.26 CUL3 KLHL3
3 apical plasma membrane GO:0016324 9.26 SCNN1A SCNN1B SCNN1G SLC12A3
4 sodium channel complex GO:0034706 8.8 SCNN1A SCNN1B SCNN1G

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

(show all 14)
# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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