MCID: PSD003
MIFTS: 46

Pseudohypoaldosteronism

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Pseudohypoaldosteronism

MalaCards integrated aliases for Pseudohypoaldosteronism:

Name: Pseudohypoaldosteronism 39 12 77 30 56 6 15 74

Classifications:



External Ids:

Disease Ontology 12 DOID:4479
MeSH 45 D011546
NCIt 51 C85034
SNOMED-CT 69 77098009
UMLS 74 C0033805

Summaries for Pseudohypoaldosteronism

MalaCards based summary : Pseudohypoaldosteronism is related to pseudohypoaldosteronism, type iia and pseudohypoaldosteronism, type iie. 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, bone and eye, and related phenotypes are Increased cell death HMECs cells and cardiovascular system

Wikipedia : 77 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 68)
# Related Disease Score Top Affiliating Genes
1 pseudohypoaldosteronism, type iia 34.0 CUL3 KLHL3
2 pseudohypoaldosteronism, type iie 34.0 CUL3 KLHL3
3 pseudohypoaldosteronism, type i, autosomal recessive 33.3 NR3C2 REN SCNN1A SCNN1B SCNN1G
4 pseudohypoaldosteronism, type i, autosomal dominant 33.2 NR3C2 REN SCNN1A SCNN1B SCNN1G
5 arthrogryposis, distal, type 3 30.5 NR3C2 REN SLC12A3 WNK1 WNK4
6 apparent mineralocorticoid excess 30.0 NR3C2 REN
7 renal tubular acidosis 29.9 NR3C2 REN SCNN1G
8 cystic fibrosis 29.5 SCNN1A SCNN1B SCNN1G
9 metabolic acidosis 29.5 KLHL3 SCNN1G WNK1 WNK4
10 bartter disease 29.1 KCNJ1 REN SLC12A3
11 familial hypertension 28.8 CUL3 KLHL3 NR3C2 REN WNK1 WNK4
12 liddle syndrome 1 28.6 NR3C2 REN SCNN1A SCNN1B SCNN1G WNK4
13 pseudohypoaldosteronism, type iid 12.6
14 pseudohypoaldosteronism, type iib 12.5
15 pseudohypoaldosteronism, type iic 12.5
16 transient pseudohypoaldosteronism 12.2
17 acute cystitis 10.3
18 lipoid congenital adrenal hyperplasia 10.3
19 pyelonephritis 10.3
20 urinary tract obstruction 10.3
21 miliaria rubra 10.1
22 miliaria 10.1
23 anuria 10.1 NR3C2 REN
24 hyperaldosteronism, familial, type i 10.1 NR3C2 REN
25 cat eye syndrome 10.0
26 cholelithiasis 10.0
27 thrombocytosis 10.0
28 polyhydramnios 10.0
29 hypoaldosteronism 10.0
30 adrenal cortex disease 10.0 NR3C2 REN
31 adrenal gland disease 10.0 NR3C2 REN
32 cortisone reductase deficiency 10.0 NR3C2 REN
33 heart valve disease 9.9 NR3C2 REN
34 idiopathic bronchiectasis 9.9 SCNN1A SCNN1B SCNN1G
35 bronchiectasis 9.9 SCNN1A SCNN1B SCNN1G
36 pelger-huet anomaly 9.9
37 renal tubular acidosis, proximal 9.9
38 thrombophilia due to thrombin defect 9.9
39 down syndrome 9.9
40 ureterocele 9.9
41 vesicoureteral reflux 1 9.9
42 bone mineral density quantitative trait locus 3 9.9
43 corticosterone methyloxidase type ii deficiency 9.9
44 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
45 cardiac arrest 9.9
46 thrombosis 9.9
47 obstructive nephropathy 9.9
48 hydronephrosis 9.9
49 bronchopneumonia 9.9
50 pyloric stenosis 9.9

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:

27
# 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.97 CUL3 KCNJ1 KLHL3 NR3C2 REN SCNN1B
2 homeostasis/metabolism MP:0005376 9.9 CUL3 KCNJ1 KLHL3 NR3C2 REN SCNN1A
3 growth/size/body region MP:0005378 9.86 CUL3 KCNJ1 NR3C2 REN SCNN1A SCNN1B
4 mortality/aging MP:0010768 9.56 CUL3 KCNJ1 NR3C2 REN SCNN1A SCNN1B
5 renal/urinary system MP:0005367 9.32 KCNJ1 KLHL3 NR3C2 REN SCNN1A SCNN1B

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 Polystyrene sulfonic acid Phase 2
4 HIV Protease Inhibitors Phase 2
5
protease inhibitors Phase 2
6 Angiotensin-Converting Enzyme Inhibitors Phase 2
7 Chelating Agents Phase 2
8 Antihypertensive Agents Phase 2
9 Hormones, Hormone Substitutes, and Hormone Antagonists
10 Hormone Antagonists
11 Hormones
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 Rare Genetic Disorders of the Breathing Airways Completed NCT00323167
4 Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease Completed NCT00368446

Search NIH Clinical Center for Pseudohypoaldosteronism

Genetic Tests for Pseudohypoaldosteronism

Genetic tests related to Pseudohypoaldosteronism:

# Genetic test Affiliating Genes
1 Pseudohypoaldosteronism 30

Anatomical Context for Pseudohypoaldosteronism

MalaCards organs/tissues related to Pseudohypoaldosteronism:

42
Bone, Eye, Skin, Kidney, Colon, Salivary Gland, Cortex
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 292)
# Title Authors Year
1
Generation and analysis of a mouse model of pseudohypoaldosteronism type II caused by KLHL3 mutation in BTB domain. ( 30148674 )
2019
2
A potential serious complication in infants with congenital obstructive uropathy: Secondary pseudohypoaldosteronism. ( 30623923 )
2019
3
Complete clinical resolution of a Japanese family with renal pseudohypoaldosteronism type 1 due to a novel NR3C2 mutation. ( 30919533 )
2019
4
Transient pseudohypoaldosteronism: a potentially severe condition affecting infants with urinary tract malformation. ( 30962012 )
2019
5
Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in SCNN1Aand SCNN1BGenes. ( 31018202 )
2019
6
A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4. ( 31044551 )
2019
7
Pseudohypoaldosteronism Type II: A Young Girl Presented with Hypertension, Hyperkalemia and Metabolic Acidosis. ( 29482694 )
2018
8
Loss of ╬▓ Epithelial Sodium Channel Function in Meibomian Glands Produces Pseudohypoaldosteronism 1-Like Ocular Disease in Mice. ( 29107074 )
2018
9
Transient Pseudohypoaldosteronism Caused by Intestinal Abnormalities. ( 29237184 )
2018
10
A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II. ( 29511623 )
2018
11
Rare Cause of Hyperkalemia in the Newborn Period: Report of Two Cases of Pseudohypoaldosteronism Type 1. ( 29515305 )
2018
12
In systemic pseudohypoaldosteronism type 1 skin manifestations are not rare and the disease is not transient. ( 29702750 )
2018
13
The Authors' Reply: In systemic pseudohypoaldosteronism type 1 skin manifestations are not rare and the disease is not transient. ( 29772605 )
2018
14
Secondary Pseudohypoaldosteronism Masquerading Congenital Adrenal Hyperplasia in a Neonate. ( 29854986 )
2018
15
Decreased KLHL3 expression is involved in the pathogenesis of pseudohypoaldosteronism type II caused by cullin 3 mutation in vivo. ( 29869755 )
2018
16
Expression of the epithelial sodium channel (ENaC) in the endometrium - Implications for fertility in a patient with pseudohypoaldosteronism. ( 29885352 )
2018
17
Pseudohypoaldosteronism Type II Caused by CUL3 Mutation Presented with Visual Impairment. ( 30058590 )
2018
18
Pendred, pendrin, pseudohypoaldosteronism type II, and renal tubular acidosis. ( 30143066 )
2018
19
A mouse model of pseudohypoaldosteronism type II reveals a novel mechanism of renal tubular acidosis. ( 30146013 )
2018
20
An infant presenting with failure to thrive and hyperkalaemia owing to transient pseudohypoaldosteronism: case report. ( 28557682 )
2018
21
WNK4 is indispensable for the pathogenesis of pseudohypoaldosteronism type II caused by mutant KLHL3. ( 28743496 )
2017
22
Clinical features and molecular basis of pseudohypoaldosteronism type 1. ( 28804203 )
2017
23
Congenital Jejunal Membrane Causing Transient Pseudohypoaldosteronism and Hypoprothrombinemia in a 7-Week-Old Infant. ( 28806843 )
2017
24
A novel frameshift mutation in NR3C2 leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1. ( 27725360 )
2017
25
KLHL3 Knockout Mice Reveal the Physiological Role of KLHL3 and the Pathophysiology of Pseudohypoaldosteronism Type II Caused by Mutant KLHL3. ( 28052936 )
2017
26
Transient pseudohypoaldosteronism in infancy secondary to urinary tract infection. ( 28233358 )
2017
27
Clinical Manifestation and Molecular Analysis of Three Korean Patients with the Renal Form of Pseudohypoaldosteronism Type 1. ( 28249922 )
2017
28
Restoration of Epithelial Sodium Channel Function by Synthetic Peptides in Pseudohypoaldosteronism Type 1B Mutants. ( 28286482 )
2017
29
Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature. ( 28484659 )
2017
30
Pseudohypoaldosteronism types I and II: little more than a name in common. ( 28593901 )
2017
31
TNF Lectin-Like Domain Restores Epithelial Sodium Channel Function in Frameshift Mutants Associated with Pseudohypoaldosteronism Type 1B. ( 28611771 )
2017
32
A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation. ( 27780982 )
2016
33
Reducing ╬▒ENaC expression in the kidney connecting tubule induces pseudohypoaldosteronism type 1 symptoms during K+ loading. ( 26582762 )
2016
34
Pseudohypoaldosteronism type 1 due to novel variants of SCNN1B gene. ( 26807262 )
2016
35
Pseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia. ( 26904317 )
2016
36
A novel NR3C2 mutation in a Japanese patient with the renal form of pseudohypoaldosteronism type 1. ( 27507913 )
2016
37
Secondary or Transient Pseudohypoaldosteronism Associated With Urinary Tract Anomaly and Urinary Infection: A Case Report. ( 27516976 )
2016
38
Severe systemic type 1 pseudohypoaldosteronism: 5 years of evolution. ( 27651040 )
2016
39
A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1. ( 27780983 )
2016
40
Dermal and Ophthalmic Findings in Pseudohypoaldosteronism. ( 26316441 )
2015
41
Generation and analysis of knock-in mice carrying pseudohypoaldosteronism type II-causing mutations in the cullin 3 gene. ( 26490675 )
2015
42
Pseudohypoaldosteronism type 1 and Liddle's syndrome mutations that affect the single-channel properties of the epithelial Na+ channel. ( 26537344 )
2015
43
Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2. ( 26594094 )
2015
44
Pseudohypoaldosteronism in a newborn male with functional polymorphisms in the mineralocorticoid receptor genes. ( 26817011 )
2015
45
Pseudohypoaldosteronism Type 1 (arPHA1) Treated With Sodium Polystyrene Sulfonate Pretreated Milk. ( 27335941 )
2015
46
Secondary pseudohypoaldosteronism causing cardiopulmonary arrest and cholelithiasis. ( 24730631 )
2014
47
Pseudohypoaldosteronism type II: history, arguments, answers, and still some questions. ( 24396028 )
2014
48
Ocular and skin manifestations in systemic pseudohypoaldosteronism. ( 24654255 )
2014
49
Pseudohypoaldosteronism in a neonate presenting as life-threatening arrhythmia. ( 24688761 )
2014
50
Pseudohypoaldosteronism type-I: a rare cause of hyperkalemia in neonates. ( 24864655 )
2014

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
2 NR3C2 NM_000901.4(NR3C2): c.1409C> A (p.Ser470Ter) single nucleotide variant Pathogenic rs879255348 GRCh38 Chromosome 4, 148435452: 148435452

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 9.85 CUL3 KCNJ1 NR3C2 REN SCNN1A SCNN1B
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 17)
# Name GO ID Score Top Affiliating Genes
1 sodium ion transport GO:0006814 9.67 SCNN1A SCNN1B SCNN1G SLC12A3
2 sensory perception of taste GO:0050909 9.65 SCNN1A SCNN1B SCNN1G
3 excretion GO:0007588 9.63 KCNJ1 SCNN1B SCNN1G
4 sodium ion transmembrane transport GO:0035725 9.62 SCNN1A SCNN1B SCNN1G SLC12A3
5 potassium ion import across plasma membrane GO:1990573 9.57 KCNJ1 SLC12A3
6 positive regulation of ion transmembrane transporter activity GO:0032414 9.56 WNK1 WNK4
7 positive regulation of sodium ion transmembrane transporter activity GO:2000651 9.55 WNK1 WNK4
8 negative regulation of sodium ion transport GO:0010766 9.54 WNK1 WNK4
9 positive regulation of potassium ion import GO:1903288 9.52 WNK1 WNK4
10 negative regulation of pancreatic juice secretion GO:0090188 9.51 WNK1 WNK4
11 renal sodium ion absorption GO:0070294 9.49 KLHL3 WNK4
12 distal tubule morphogenesis GO:0072156 9.43 KLHL3 WNK4
13 sodium ion homeostasis GO:0055078 9.43 SCNN1A SCNN1B SCNN1G
14 regulation of cellular process GO:0050794 9.4 WNK1 WNK4
15 ion homeostasis GO:0050801 9.33 KLHL3 WNK1 WNK4
16 ion transport GO:0006811 9.17 KCNJ1 SCNN1A SCNN1B SCNN1G SLC12A3 WNK1
17 multicellular organismal water homeostasis GO:0050891 9.13 SCNN1A SCNN1B SCNN1G

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

# Name GO ID Score Top Affiliating Genes
1 sodium channel activity GO:0005272 9.32 SCNN1A SCNN1G
2 chloride channel inhibitor activity GO:0019869 9.26 WNK1 WNK4
3 potassium channel inhibitor activity GO:0019870 9.16 WNK1 WNK4
4 WW domain binding GO:0050699 9.13 SCNN1A SCNN1B SCNN1G
5 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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