MCID: PSD003
MIFTS: 44

Pseudohypoaldosteronism malady

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

Aliases & Classifications for Pseudohypoaldosteronism

Aliases & Descriptions 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 i and pseudohypoaldosteronism type i, autosomal dominant. An important gene associated with Pseudohypoaldosteronism is WNK4 (WNK Lysine Deficient Protein Kinase 4), 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 : 71 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 62)
id Related Disease Score Top Affiliating Genes
1 pseudohypoaldosteronism, type i 12.5
2 pseudohypoaldosteronism type i, autosomal dominant 12.3
3 pseudohypoaldosteronism, type iie 12.2
4 pseudohypoaldosteronism, type iid 12.2
5 pseudohypoaldosteronism, type iic 12.1
6 pseudohypoaldosteronism, type iib 12.1
7 pseudohypoaldosteronism, type iia 12.1
8 transient pseudohypoaldosteronism 11.9
9 arthrogryposis, distal, type 3 10.7
10 alzheimer disease-4 10.1 CUL3 KLHL3
11 lyz-related familial visceral amyloidosis 10.0 SCNN1B SCNN1G
12 lztfl1- related bardet-biedl syndrome 10.0 SCNN1B SCNN1G
13 thiamine metabolism dysfunction syndrome 2 10.0 CUL3 KLHL3 WNK4
14 pyelonephritis 10.0
15 congenital adrenal hyperplasia 10.0
16 bickerstaff brainstem encephalitis 9.9 SCNN1A SCNN1B SCNN1G
17 bartter syndrome, type 3 9.9 KCNJ1 SLC12A3
18 miliaria rubra 9.9
19 cystic fibrosis 9.9
20 miliaria 9.9
21 bipolar disorder 9.8 KCNJ1 SLC12A3
22 indian tick typhus 9.8 KCNJ1 SLC12A3
23 smith-mccort dysplasia 2 9.8 NR3C2 SCNN1A SCNN1B SCNN1G
24 lymphoproliferative syndrome 2 9.8 NR3C2 SCNN1A SCNN1B SCNN1G
25 bronchiectasis with or without elevated sweat chloride 3 9.8 NR3C2 SCNN1A SCNN1B SCNN1G
26 clear cell adenocarcinoma 9.8 NR3C2 SLC12A3
27 aorta angiosarcoma 9.8 KCNJ1 NR3C2 SLC12A3
28 episodic kinesigenic dyskinesia 2 9.8 KCNJ1 SLC12A3
29 cholelithiasis 9.8
30 polyhydramnios 9.8
31 c syndrome 9.8
32 hypoaldosteronism 9.8
33 thrombocytosis 9.8
34 hyperaldosteronism, familial, type iii 9.8 KCNJ1 NR3C2 SCNN1B SCNN1G
35 familial nasal acilia 9.7 CUL3 KLHL3 NR3C2 WNK1 WNK4
36 hypertension, essential 9.6 NR3C2 SLC12A3 WNK1 WNK4
37 renal tubular acidosis 9.6
38 ureterocele 9.6
39 hyperaldosteronism 9.6
40 thrombosis 9.6
41 urinary tract obstruction 9.6
42 acute pyelonephritis 9.6
43 hydronephrosis 9.6
44 hypopituitarism 9.6
45 vesicoureteral reflux 9.6
46 bronchopneumonia 9.6
47 chromosome 4q deletion 9.6
48 pyloric stenosis 9.6
49 familial hypertension 9.6
50 nephrocalcinosis 9.6

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 CUL3 KLHL3 NR3C2 WNK1 WNK4

MGI Mouse Phenotypes related to Pseudohypoaldosteronism:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.86 KCNJ1 KLHL3 NR3C2 SCNN1B SLC12A3 WNK1
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 KCNJ1 NR3C2 SCNN1A SCNN1B SCNN1G SLC12A3

Drugs & Therapeutics for Pseudohypoaldosteronism

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

(show all 11)
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
protease inhibitors Phase 2
8 Hormone Antagonists
9 Hormones
10 Hormones, Hormone Substitutes, and Hormone Antagonists
11 Mineralocorticoids

Interventional clinical trials:


id Name Status NCT ID Phase
1 Phase II Study of the Pathophysiology and Treatment With Enalapril and Polystyrene Sulfonate for Pseudohypoaldosteronism, Type I Completed NCT00004328 Phase 2
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, 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 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 259)
id Title Authors Year
1
Severe systemic Type 1 pseudohypoaldosteronism: 5 years of evolution. ( 27651040 )
2016
2
Pseudohypoaldosteronism type 1 due to novel variants of SCNN1B gene. ( 26807262 )
2016
3
A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation. ( 27780982 )
2016
4
A novel NR3C2 mutation in a Japanese patient with the renal form of pseudohypoaldosteronism type 1. ( 27507913 )
2016
5
Secondary or Transient Pseudohypoaldosteronism Associated With Urinary Tract Anomaly and Urinary Infection: A Case Report. ( 27516976 )
2016
6
Pseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia. ( 26904317 )
2016
7
Reducing I+ENaC expression in the kidney connecting tubule induces pseudohypoaldosteronism type 1 symptoms during K+ loading. ( 26582762 )
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
A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1. ( 27780983 )
2016
10
Dermal and Ophthalmic Findings in Pseudohypoaldosteronism. ( 26316441 )
2015
11
Pseudohypoaldosteronism type 1 and Liddle's syndrome mutations that affect the single-channel properties of the epithelial Na+ channel. ( 26537344 )
2015
12
Pseudohypoaldosteronism Type 1 (arPHA1) Treated With Sodium Polystyrene Sulfonate Pretreated Milk. ( 27335941 )
2015
13
Pseudohypoaldosteronism in a newborn male with functional polymorphisms in the mineralocorticoid receptor genes. ( 26817011 )
2015
14
Generation and analysis of knock-in mice carrying pseudohypoaldosteronism type II-causing mutations in the cullin 3 gene. ( 26490675 )
2015
15
Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2. ( 26594094 )
2015
16
Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point. ( 25548639 )
2014
17
Pseudohypoaldosteronism Type II: History, Arguments, Answers, and Still Some Questions. ( 24396028 )
2014
18
Pseudohypoaldosteronism type 1 secondary to vesicoureteral reflux: An endocrinologic emergency. ( 25043099 )
2014
19
Secondary pseudohypoaldosteronism causing cardiopulmonary arrest and cholelithiasis. ( 24730631 )
2014
20
Pseudohypoaldosteronism in a neonate presenting as life-threatening arrhythmia. ( 24688761 )
2014
21
Pseudohypoaldosteronism type-I: a rare cause of hyperkalemia in neonates. ( 24864655 )
2014
22
Ocular and skin manifestations in systemic pseudohypoaldosteronism. ( 24654255 )
2014
23
Pseudohypoaldosteronism. ( 23392097 )
2013
24
Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1. ( 23416952 )
2013
25
Pseudohypoaldosteronism without nephropathy masking salt-wasting congenital adrenal hyperplasia genetically confirmed. ( 23370958 )
2013
26
Clinical and molecular analysis of six Japanese patients with a renal form of pseudohypoaldosteronism type 1. ( 23197115 )
2013
27
An inducible transgenic mouse model for familial hypertension with hyperkalaemia (Gordon's syndrome or pseudohypoaldosteronism type II). ( 23336180 )
2013
28
Autosomal dominant pseudohypoaldosteronism type 1 in an infant with salt wasting crisis associated with urinary tract infection and obstructive uropathy. ( 24455331 )
2013
29
Novel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1. ( 23762408 )
2013
30
CUL3 gene analysis enables early intervention for pediatric pseudohypoaldosteronism type II in infancy. ( 23689903 )
2013
31
Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant. ( 23327809 )
2013
32
A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3. ( 23902721 )
2013
33
A molecular update on pseudohypoaldosteronism type II. ( 24107425 )
2013
34
A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene. ( 23031435 )
2013
35
A case of SCNN1A splicing mutation presenting as mild systemic pseudohypoaldosteronism type 1. ( 23813355 )
2013
36
Pseudohypoaldosteronism type 1: management issues. ( 23680607 )
2013
37
SPAK deficiency corrects pseudohypoaldosteronism II caused by WNK4 mutation. ( 24039833 )
2013
38
Pseudohypoaldosteronism type 1: clinical features and management in infancy. ( 24616761 )
2013
39
Pathogenesis of pseudohypoaldosteronism type 2 by WNK1 mutations. ( 22080857 )
2012
40
Unique eyelid manifestations in type 1 pseudohypoaldosteronism. ( 23080478 )
2012
41
Pseudohypoaldosteronism masquerading as congenital adrenal hyperplasia. ( 21638072 )
2012
42
Pseudohypoaldosteronism type 2 presenting with hypertension and hyperkalaemia due to a novel mutation in the WNK4 gene. ( 21764813 )
2012
43
Syndromes of impaired ion handling in the distal nephron: pseudohypoaldosteronism and familial hyperkalemic hypertension. ( 22450343 )
2012
44
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
45
Secondary pseudohypoaldosteronism caused by urinary tract infection associated with urinary tract anomalies: case reports. ( 22397047 )
2012
46
Miliaria rubra and thrombocytosis in pseudohypoaldosteronism: case report. ( 22150373 )
2012
47
Neonatal renal venous thrombosis followed by secondary pseudohypoaldosteronism. ( 23279027 )
2012
48
Secondary pseudohypoaldosteronism caused by urinary tract infection associated with urinary tract abnormalities: case reports. ( 23692802 )
2012
49
Pseudohypoaldosteronism type 1: a rare cause of severe dyselectrolytemia and cardiovascular collapse in neonates. ( 24027733 )
2012
50
Novel mutation in the epithelial sodium channel causing type I pseudohypoaldosteronism in a patient misdiagnosed with cystic fibrosis. ( 22371258 )
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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