MCID: PSD003
MIFTS: 47

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 38 12 76 29 55 6 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:4479
MeSH 44 D011546
NCIt 50 C85034
SNOMED-CT 68 77098009
UMLS 73 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, testes and skin, and related phenotypes are Increased cell death HMECs cells and cardiovascular system

Wikipedia : 76 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 65)
# Related Disease Score Top Affiliating Genes
1 pseudohypoaldosteronism, type iie 33.9 CUL3 KLHL3
2 pseudohypoaldosteronism, type iia 33.9 CUL3 KLHL3
3 pseudohypoaldosteronism, type i, autosomal recessive 33.5 NR3C2 REN SCNN1A SCNN1B SCNN1G
4 pseudohypoaldosteronism, type i, autosomal dominant 33.4 NR3C2 REN SCNN1A SCNN1B SCNN1G
5 arthrogryposis, distal, type 3 30.8 NR3C2 REN SLC12A3 WNK1 WNK4
6 renal tubular acidosis 30.0 NR3C2 REN SCNN1G
7 apparent mineralocorticoid excess 29.9 NR3C2 REN
8 cystic fibrosis 29.7 SCNN1A SCNN1B SCNN1G
9 metabolic acidosis 29.6 KLHL3 SCNN1G WNK1 WNK4
10 bartter disease 29.3 KCNJ1 REN SLC12A3
11 familial hypertension 29.1 CUL3 KLHL3 NR3C2 REN WNK1 WNK4
12 liddle syndrome 1 29.0 NR3C2 REN SCNN1A SCNN1B SCNN1G WNK4
13 pseudohypoaldosteronism, type iid 12.5
14 pseudohypoaldosteronism, type iib 12.4
15 pseudohypoaldosteronism, type iic 12.4
16 transient pseudohypoaldosteronism 12.2
17 acute cystitis 10.3
18 lipoid congenital adrenal hyperplasia 10.3
19 pyelonephritis 10.3
20 miliaria rubra 10.1
21 miliaria 10.1
22 anuria 10.0 NR3C2 REN
23 hyperaldosteronism, familial, type i 10.0 NR3C2 REN
24 adrenal cortex disease 10.0 NR3C2 REN
25 adrenal gland disease 10.0 NR3C2 REN
26 cholelithiasis 10.0
27 thrombocytosis 10.0
28 polyhydramnios 10.0
29 hypoaldosteronism 10.0
30 cortisone reductase deficiency 10.0 NR3C2 REN
31 heart valve disease 9.9 NR3C2 REN
32 idiopathic bronchiectasis 9.9 SCNN1A SCNN1B SCNN1G
33 bronchiectasis 9.9 SCNN1A SCNN1B SCNN1G
34 antenatal bartter syndrome 9.9 KCNJ1 REN
35 cat eye syndrome 9.9
36 renal tubular acidosis, proximal 9.9
37 thrombophilia due to thrombin defect 9.9
38 down syndrome 9.9
39 ureterocele 9.9
40 vesicoureteral reflux 1 9.9
41 bone mineral density quantitative trait locus 3 9.9
42 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
43 liddle syndrome 2 9.9
44 thrombosis 9.9
45 obstructive nephropathy 9.9
46 hydronephrosis 9.9
47 bronchopneumonia 9.9
48 pyloric stenosis 9.9
49 nephrocalcinosis 9.9
50 pneumothorax 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:

26
# 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:

46
# 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 5362032 40466924
2
Enalaprilat Approved Phase 2 76420-72-9 6917719
3
protease inhibitors Phase 2
4 Polystyrene sulfonic acid Phase 2
5 HIV Protease Inhibitors Phase 2
6 Antihypertensive Agents Phase 2
7 Chelating Agents Phase 2
8 Angiotensin-Converting Enzyme Inhibitors Phase 2
9 Hormones
10 Mineralocorticoids
11 Hormones, Hormone Substitutes, and Hormone Antagonists
12 Hormone Antagonists

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 29

Anatomical Context for Pseudohypoaldosteronism

MalaCards organs/tissues related to Pseudohypoaldosteronism:

41
Testes, Skin, Lung, Kidney, Colon, Bone, Eye
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 286)
# Title Authors Year
1
Decreased KLHL3 expression is involved in the pathogenesis of pseudohypoaldosteronism type II caused by cullin 3 mutation in vivo. ( 29869755 )
2018
2
Loss of I^ Epithelial Sodium Channel Function in Meibomian Glands Produces Pseudohypoaldosteronism 1-Like Ocular Disease in Mice. ( 29107074 )
2018
3
A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II. ( 29511623 )
2018
4
In systemic pseudohypoaldosteronism type 1 skin manifestations are not rare and the disease is not transient. ( 29702750 )
2018
5
Rare Cause of Hyperkalemia in the Newborn Period: Report of Two Cases of Pseudohypoaldosteronism Type 1. ( 29515305 )
2018
6
Expression of the epithelial sodium channel (ENaC) in the endometrium - Implications for fertility in a patient with pseudohypoaldosteronism. ( 29885352 )
2018
7
Pseudohypoaldosteronism Type II: A Young Girl Presented with Hypertension, Hyperkalemia and Metabolic Acidosis. ( 29482694 )
2018
8
The Authors' Reply: In systemic pseudohypoaldosteronism type 1 skin manifestations are not rare and the disease is not transient. ( 29772605 )
2018
9
Secondary Pseudohypoaldosteronism Masquerading Congenital Adrenal Hyperplasia in a Neonate. ( 29854986 )
2018
10
A mouse model of pseudohypoaldosteronism type II reveals a novel mechanism of renal tubular acidosis. ( 30146013 )
2018
11
Generation and analysis of a mouse model of pseudohypoaldosteronism type II caused by KLHL3 mutation in BTB domain. ( 30148674 )
2018
12
Pseudohypoaldosteronism Type II Caused by CUL3 Mutation Presented with Visual Impairment. ( 30058590 )
2018
13
Pendred, pendrin, pseudohypoaldosteronism type II, and renal tubular acidosis. ( 30143066 )
2018
14
WNK4 is indispensable for the pathogenesis of pseudohypoaldosteronism type II caused by mutant KLHL3. ( 28743496 )
2017
15
Transient pseudohypoaldosteronism in infancy secondary to urinary tract infection. ( 28233358 )
2017
16
Congenital Jejunal Membrane Causing Transient Pseudohypoaldosteronism and Hypoprothrombinemia in a 7-Week-Old Infant. ( 28806843 )
2017
17
Pseudohypoaldosteronism types I and II: little more than a name in common. ( 28593901 )
2017
18
Restoration of Epithelial Sodium Channel Function by Synthetic Peptides in Pseudohypoaldosteronism Type 1B Mutants. ( 28286482 )
2017
19
Transient Pseudohypoaldosteronism Caused by Intestinal Abnormalities. ( 29237184 )
2017
20
KLHL3 Knockout Mice Reveal the Physiological Role of KLHL3 and the Pathophysiology of Pseudohypoaldosteronism Type II Caused by Mutant KLHL3. ( 28052936 )
2017
21
Clinical Manifestation and Molecular Analysis of Three Korean Patients with the Renal Form of Pseudohypoaldosteronism Type 1. ( 28249922 )
2017
22
An infant presenting with failure to thrive and hyperkalaemia owing to transient pseudohypoaldosteronism: case report. ( 28557682 )
2017
23
Clinical features and molecular basis of pseudohypoaldosteronism type 1. ( 28804203 )
2017
24
TNF Lectin-Like Domain Restores Epithelial Sodium Channel Function in Frameshift Mutants Associated with Pseudohypoaldosteronism Type 1B. ( 28611771 )
2017
25
Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature. ( 28484659 )
2017
26
Pseudohypoaldosteronism type 1 due to novel variants of SCNN1B gene. ( 26807262 )
2016
27
Secondary or Transient Pseudohypoaldosteronism Associated With Urinary Tract Anomaly and Urinary Infection: A Case Report. ( 27516976 )
2016
28
A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1. ( 27780983 )
2016
29
A novel frameshift mutation in NR3C2 leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1. ( 27725360 )
2016
30
Severe systemic Type 1 pseudohypoaldosteronism: 5 years of evolution. ( 27651040 )
2016
31
A novel NR3C2 mutation in a Japanese patient with the renal form of pseudohypoaldosteronism type 1. ( 27507913 )
2016
32
A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation. ( 27780982 )
2016
33
Pseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia. ( 26904317 )
2016
34
Reducing I+ENaC expression in the kidney connecting tubule induces pseudohypoaldosteronism type 1 symptoms during K+ loading. ( 26582762 )
2016
35
Generation and analysis of knock-in mice carrying pseudohypoaldosteronism type II-causing mutations in the cullin 3 gene. ( 26490675 )
2015
36
Pseudohypoaldosteronism Type 1 (arPHA1) Treated With Sodium Polystyrene Sulfonate Pretreated Milk. ( 27335941 )
2015
37
Dermal and Ophthalmic Findings in Pseudohypoaldosteronism. ( 26316441 )
2015
38
Pseudohypoaldosteronism in a newborn male with functional polymorphisms in the mineralocorticoid receptor genes. ( 26817011 )
2015
39
Pseudohypoaldosteronism type 1 and Liddle's syndrome mutations that affect the single-channel properties of the epithelial Na+ channel. ( 26537344 )
2015
40
Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2. ( 26594094 )
2015
41
Pseudohypoaldosteronism type-I: a rare cause of hyperkalemia in neonates. ( 24864655 )
2014
42
Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point. ( 25548639 )
2014
43
Secondary pseudohypoaldosteronism causing cardiopulmonary arrest and cholelithiasis. ( 24730631 )
2014
44
Pseudohypoaldosteronism Type II: History, Arguments, Answers, and Still Some Questions. ( 24396028 )
2014
45
Pseudohypoaldosteronism type 1 secondary to vesicoureteral reflux: An endocrinologic emergency. ( 25043099 )
2014
46
Pseudohypoaldosteronism in a neonate presenting as life-threatening arrhythmia. ( 24688761 )
2014
47
Ocular and skin manifestations in systemic pseudohypoaldosteronism. ( 24654255 )
2014
48
Evaluation of Phosphorylated Urinary Na-Cl Cotransporter Is Potentially Useful in a Patient With Pseudohypoaldosteronism Type II due to Mutation in CUL3. ( 27335910 )
2014
49
Pseudohypoaldosteronism without nephropathy masking salt-wasting congenital adrenal hyperplasia genetically confirmed. ( 23370958 )
2013
50
Pseudohypoaldosteronism. ( 23392097 )
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
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 18)
# 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 9.58 KCNJ1 SLC12A3
6 potassium ion import GO:0010107 9.57 KCNJ1 SLC12A3
7 positive regulation of ion transmembrane transporter activity GO:0032414 9.56 WNK1 WNK4
8 positive regulation of sodium ion transmembrane transporter activity GO:2000651 9.55 WNK1 WNK4
9 negative regulation of sodium ion transport GO:0010766 9.54 WNK1 WNK4
10 positive regulation of potassium ion import GO:1903288 9.52 WNK1 WNK4
11 negative regulation of pancreatic juice secretion GO:0090188 9.51 WNK1 WNK4
12 renal sodium ion absorption GO:0070294 9.49 KLHL3 WNK4
13 distal tubule morphogenesis GO:0072156 9.43 KLHL3 WNK4
14 sodium ion homeostasis GO:0055078 9.43 SCNN1A SCNN1B SCNN1G
15 regulation of cellular process GO:0050794 9.4 WNK1 WNK4
16 ion homeostasis GO:0050801 9.33 KLHL3 WNK1 WNK4
17 ion transport GO:0006811 9.17 KCNJ1 SCNN1A SCNN1B SCNN1G SLC12A3 WNK1
18 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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