Pseudohypoaldosteronism disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Aliases & Classifications for Pseudohypoaldosteronism

MalaCards integrated aliases for Pseudohypoaldosteronism:

Name: Pseudohypoaldosteronism ¹¹ ⁵⁸ ⁷⁵ ²⁸ ⁵³ ⁵ ¹⁴ ⁷¹

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Nephrological diseases Cardiovascular diseases Respiratory diseases Endocrine diseases Blood diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare renal diseases

External Ids:

Disease Ontology ¹¹ DOID:4479

MeSH ⁴³ D011546

NCIt ⁴⁹ C85034

SNOMED-CT ⁶⁸ 77098009

UMLS via Orphanet ⁷² C0033805

Orphanet ⁵⁸ ORPHA444916

UMLS ⁷¹ C0033805

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Summaries for Pseudohypoaldosteronism

MalaCards based summary: Pseudohypoaldosteronism is related to pseudohypoaldosteronism type 1 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 inorganic cations/anions and amino acids/oligopeptides and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Enalaprilat and Enalapril have been mentioned in the context of this disorder. Affiliated tissues include Kidney, salivary gland and adrenal gland, and related phenotypes are Decreased caspase 3/7 activity and homeostasis/metabolism

Wikipedia: ⁷⁵ Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism. However, the condition is... more...

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Related Diseases for Pseudohypoaldosteronism

Diseases in the Pseudohypoaldosteronism family:

Pseudohypoaldosteronism, Type Iia	Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism, Type Iic	Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism, Type Iie	Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Pseudohypoaldosteronism Type 1
Transient Pseudohypoaldosteronism

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

(show top 50) (show all 136)

#	Related Disease	Score	Top Affiliating Genes
1	pseudohypoaldosteronism type 1	33.0	SCNN1B SCNN1A
2	pseudohypoaldosteronism, type iie	33.0	KLHL3 CUL3
3	pseudohypoaldosteronism, type iia	32.6	PHA2A KLHL3 CUL3
4	pseudohypoaldosteronism, type i, autosomal dominant	32.6	WNK4 WNK1 SCNN1G SCNN1B SCNN1A REN
5	pseudohypoaldosteronism, type ib1, autosomal recessive	32.4	WNK4 WNK1 SCNN1G SCNN1B SCNN1A REN
6	arthrogryposis, distal, type 3	31.1	WNK4 WNK1 SLC12A3 SCNN1G SCNN1B REN
7	metabolic acidosis	31.0	WNK4 WNK1 SCNN1G SCNN1B SCNN1A REN
8	lipoid congenital adrenal hyperplasia	30.8	SCNN1G SCNN1B SCNN1A REN NR3C2 NR3C1
9	hypertension, essential	30.7	WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B
10	renal tubular acidosis	30.7	WNK4 SLC12A3 REN
11	miliaria	30.5	SLC12A3 SCNN1G SCNN1B SCNN1A NR3C2 KLHL3
12	miliaria rubra	30.3	WNK4 SLC12A3 SCNN1G SCNN1B SCNN1A NR3C2
13	idiopathic bronchiectasis	30.3	SCNN1G SCNN1B SCNN1A
14	hypokalemia	30.2	WNK4 SLC12A3 REN NR3C2 NR3C1 KCNJ1
15	corticosterone methyloxidase type i deficiency	30.2	SCNN1G REN
16	polyhydramnios	30.2	SLC12A3 REN KCNJ1
17	gitelman syndrome	29.9	WNK4 WNK1 SLC12A3 REN KLHL3 KCNJ1
18	cystic fibrosis	29.9	SGK1 SCNN1G SCNN1B SCNN1A PRSS8 KCNJ1
19	distal arthrogryposis	29.8	WNK4 WNK1 SLC12A3 KLHL3
20	apparent mineralocorticoid excess	29.7	WNK4 SLC12A3 SCNN1B REN NR3C2 KCNJ1
21	bartter disease	29.6	WNK4 WNK1 TRPV5 SLC12A3 SCNN1B REN
22	conn's syndrome	29.4	WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B
23	liddle syndrome 1	29.1	WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B
24	pseudohypoaldosteronism, type iid	11.5
25	pseudohypoaldosteronism, type iib	11.4
26	pseudohypoaldosteronism, type iic	11.4
27	pseudohypoaldosteronism, type ib2, autosomal recessive	11.3
28	pseudohypoaldosteronism, type ib3, autosomal recessive	11.3
29	transient pseudohypoaldosteronism	11.2
30	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.6
31	urinary tract infection	10.6
32	urinary tract obstruction	10.4
33	hypoaldosteronism	10.3
34	bronchiectasis	10.3	SCNN1G SCNN1B SCNN1A
35	premature ovarian failure 7	10.3
36	hydronephrosis	10.3
37	pyelonephritis	10.3
38	corticosterone methyloxidase deficiency	10.3
39	hypertensive retinopathy	10.3	REN NR3C2
40	steroid inherited metabolic disorder	10.3	SCNN1G REN NR3C2
41	hyperchlorhidrosis, isolated	10.2	SCNN1G SCNN1B SCNN1A NR3C2
42	supine hypotensive syndrome	10.2	REN NR3C2
43	atypical depressive disorder	10.2	NR3C2 NR3C1
44	hypomagnesemia 3, renal	10.2	SLC12A3 KLHL3 KCNJ1
45	bartter syndrome, type 3	10.2	SLC12A3 REN KCNJ1
46	vesicoureteral reflux	10.2
47	left bundle branch hemiblock	10.2	REN NR3C2
48	bartter syndrome, type 2, antenatal	10.2	WNK1 SCNN1G SCNN1B KCNJ1
49	hypokalemic periodic paralysis, type 1	10.2	SLC12A3 REN KCNJ1
50	nephrogenic diabetes insipidus	10.2	SLC12A3 REN KCNJ1

Graphical network of the top 20 diseases related to Pseudohypoaldosteronism:

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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	no effect	GR00402-S-1	10.17	ASIC5 CLDN8 CUL3 KCNJ1 KLHL3 NEDD4
2	no effect	GR00402-S-2	10.17	ASIC5 CLDN8 CUL3 KCNJ1 KLHL3 NEDD4
3	Decreased caspase 3/7 activity	GR00318-A	9.13	NR3C1 NR3C2 NR4A1

MGI Mouse Phenotypes related to Pseudohypoaldosteronism:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.25	CLDN8 CUL3 KCNJ1 KLHL3 NEDD4 NR3C1
2	renal/urinary system	MP:0005367	10.21	CLDN8 KCNJ1 KLHL3 NR3C1 NR3C2 REN
3	growth/size/body region	MP:0005378	10.19	ASIC5 CLDN8 CUL3 KCNJ1 KLHL3 NEDD4
4	normal	MP:0002873	10.01	ASIC5 NR3C1 NR4A1 PRSS8 REN SCNN1A
5	cardiovascular system	MP:0005385	9.83	CLDN8 CUL3 KCNJ1 KLHL3 NEDD4 NR3C1
6	digestive/alimentary	MP:0005381	9.7	NEDD4 NR3C1 PRSS8 SCNN1A SCNN1B SCNN1G
7	mortality/aging	MP:0010768	9.44	CUL3 KCNJ1 NEDD4 NR3C1 NR3C2 NR4A1

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Drugs & Therapeutics for Pseudohypoaldosteronism

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

(show all 9)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Enalaprilat

Approved

Phase 2

76420-72-9

6917719 5462501

2

Enalapril

Approved, Vet_approved

Phase 2

75847-73-3

40466924 5388962 5362032

3

Antihypertensive Agents

Phase 2

4

Angiotensin-Converting Enzyme Inhibitors

Phase 2

5

Polystyrene sulfonic acid

Phase 2

6

HIV Protease Inhibitors

Phase 2

7

protease inhibitors

Phase 2

8

Chelating Agents

Phase 2

9

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 a Rare Condition With Hyperaldosteronism Without Hypertension: PHA 1	Completed	NCT00646828
3	Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests	Completed	NCT00323167
4	Genetic Disorders of Mucociliary Clearance	Completed	NCT00368446
5	Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome	Recruiting	NCT05528744

Search NIH Clinical Center for Pseudohypoaldosteronism

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Genetic Tests for Pseudohypoaldosteronism

Genetic tests related to Pseudohypoaldosteronism:

#	Genetic test	Affiliating Genes
1	Pseudohypoaldosteronism ²⁸

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Anatomical Context for Pseudohypoaldosteronism

Organs/tissues related to Pseudohypoaldosteronism:

MalaCards : Kidney, Salivary Gland, Adrenal Gland, Smooth Muscle, Skin, Colon, Skeletal Muscle

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

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Publications for Pseudohypoaldosteronism

Articles related to Pseudohypoaldosteronism:

(show top 50) (show all 723)

#	Title	Authors	PMID	Year
1	Truncated beta epithelial sodium channel (ENaC) subunits responsible for multi-system pseudohypoaldosteronism support partial activity of ENaC. ⁵³ ⁶²	Edelheit O...Hanukoglu A	20064610	2010
2	Pseudohypoaldosteronism type 1 due to a novel mutation in the mineralocorticoid receptor gene. ⁵³ ⁶²	Loomba-Albrecht LA...Bremer AA	20453518	2010
3	WNK kinases and blood pressure control. ⁵³ ⁶²	Deaton SL...Cobb MH	19895753	2009
4	Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene. ⁵³ ⁶²	Kanda K...Matsuo M	19912655	2009
5	Distal potassium handling based on flow modulation of maxi-K channel activity. ⁵³ ⁶²	Rodan AR...Huang CL	19448535	2009
6	Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel. ⁵³ ⁶²	Riepe FG...Schild L	18547339	2009
7	A novel nonsense mutation of the mineralocorticoid receptor gene in the renal form of pseudohypoaldosteronism type 1. ⁵³ ⁶²	Uchida N...Mori T	19344080	2009
8	WNK3 and WNK4 amino-terminal domain defines their effect on the renal Na+-Cl- cotransporter. ⁵³ ⁶²	San-Cristobal P...Gamba G	18701621	2008
9	A patient with pseudohypoaldosteronism type II caused by a novel mutation in WNK4 gene. ⁵³ ⁶²	Gong H...Ning G	19016006	2008
10	Silencing of the mineralocorticoid receptor by ribonucleic acid interference in transgenic rats disrupts endocrine homeostasis. ⁵³ ⁶²	Lim HY...Reichardt HM	18337591	2008
11	Increased urinary Na-Cl cotransporter protein in familial hyperkalaemia and hypertension. ⁵³ ⁶²	Mayan H...Farfel Z	17951312	2008
12	A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism. ⁵³ ⁶²	Nozu K...Matsuo M	17401586	2007
13	[Mineralocorticoid resistance: pseudohypoaldosteronism type 1]. ⁵³ ⁶²	Fernandes-Rosa FL...Antonini SR	17546235	2007
14	Intersectin links WNK kinases to endocytosis of ROMK1. ⁵³ ⁶²	He G...Huang CL	17380208	2007
15	An SGK1 site in WNK4 regulates Na+ channel and K+ channel activity and has implications for aldosterone signaling and K+ homeostasis. ⁵³ ⁶²	Ring AM...Lifton RP	17360471	2007
16	Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1. ⁵³ ⁶²	Balsamo A...Riepe FG	17287415	2007
17	Exclusion of serum- and glucocorticoid-induced kinase 1 (SGK1) as a candidate gene for genetically heterogeneous renal pseudohypoaldosteronism type I in eight families. ⁵³ ⁶²	Riepe FG...Holterhus PM	17317952	2007
18	Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. ⁵³ ⁶²	Pujo L...Zennaro MC	16972228	2007
19	Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. ⁵³ ⁶²	Riepe FG...Krone N	16954160	2006
20	Overexpression of human WNK1 increases paracellular chloride permeability and phosphorylation of claudin-4 in MDCKII cells. ⁵³ ⁶²	Ohta A...Uchida S	16949040	2006
21	Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene. ⁵³ ⁶²	Fernandes-Rosa FL...Antonini SR	16757525	2006
22	WNK1 affects surface expression of the ROMK potassium channel independent of WNK4. ⁵³ ⁶²	Cope G...O'Shaughnessy KM	16775035	2006
23	Protein kinase WNK3 increases cell survival in a caspase-3-dependent pathway. ⁵³ ⁶²	Verissimo F...Jordan P	16501604	2006
24	WNK1 kinase isoform switch regulates renal potassium excretion. ⁵³ ⁶²	Wade JB...Welling PA	16709664	2006
25	WNK1 regulates phosphorylation of cation-chloride-coupled cotransporters via the STE20-related kinases, SPAK and OSR1. ⁵³ ⁶²	Moriguchi T...Shibuya H	16263722	2005
26	Association of WNK1 gene polymorphisms and haplotypes with ambulatory blood pressure in the general population. ⁵³ ⁶²	Tobin MD...Samani NJ	16301342	2005
27	Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. ⁵³ ⁶²	Sheridan MB...Cutting GR	16207733	2005
28	WNK lies upstream of kinases involved in regulation of ion transporters. ⁵³ ⁶²	Gamba G	16173916	2005
29	WNK1 activates SGK1 by a phosphatidylinositol 3-kinase-dependent and non-catalytic mechanism. ⁵³ ⁶²	Xu BE...Cobb MH	16081417	2005
30	A new kindred with pseudohypoaldosteronism type II and a novel mutation (564D>H) in the acidic motif of the WNK4 gene. ⁵³ ⁶²	Golbang AP...O'Shaughnessy KM	15998707	2005
31	WNK1 activates SGK1 to regulate the epithelial sodium channel. ⁵³ ⁶²	Xu BE...Cobb MH	16006511	2005
32	Properties of WNK1 and implications for other family members. ⁵³ ⁶²	Lenertz LY...Cobb MH	15883153	2005
33	WNK kinases and the control of blood pressure. ⁵³ ⁶²	Cope G...O'Shaughnessy KM	15866321	2005
34	Regulation of apical localization of the thiazide-sensitive NaCl cotransporter by WNK4 in polarized epithelial cells. ⁵³ ⁶²	Yang SS...Uchida S	15796898	2005
35	Normal CFTR Activity and Reversed Skin Potentials in Pseudohypoaldosteronism. ⁵³ ⁶²	Reddy MM...Quinton PM	15986094	2005
36	WNK1: analysis of protein kinase structure, downstream targets, and potential roles in hypertension. ⁵³ ⁶²	Xu BE...Cobb MH	15686619	2005
37	Pseudohypoaldosteronism type 1 and the genes encoding prostasin, alpha-spectrin, and Nedd4. ⁵³ ⁶²	Ludwig M...Reissinger A	15547682	2004
38	WNK kinases: molecular regulators of integrated epithelial ion transport. ⁵³ ⁶²	Kahle KT...Lifton RP	15300163	2004
39	Hypercalciuria in familial hyperkalemia and hypertension accompanies hyperkalemia and precedes hypertension: description of a large family with the Q565E WNK4 mutation. ⁵³ ⁶²	Mayan H...Farfel Z	15292344	2004
40	Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene. ⁵³ ⁶²	Riepe FG...Partsch CJ	15126534	2004
41	Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism. ⁵³ ⁶²	Sartorato P...Zennaro MC	15134810	2004
42	WNK1, the kinase mutated in an inherited high-blood-pressure syndrome, is a novel PKB (protein kinase B)/Akt substrate. ⁵³ ⁶²	Vitari AC...Alessi DR	14611643	2004
43	A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1). ⁵³ ⁶²	Nystrom AM...Anneren G	14715854	2004
44	Identification of 108 SNPs in TSC, WNK1, and WNK4 and their association with hypertension in a Japanese general population. ⁵³ ⁶²	Kokubo Y...Miyata T	15309683	2004
45	Multiple promoters in the WNK1 gene: one controls expression of a kidney-specific kinase-defective isoform. ⁵³ ⁶²	Delaloy C...Jeunemaitre X	14645531	2003
46	Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. ⁵³ ⁶²	Zambrowicz BP...Sands AT	14610273	2003
47	Mendelian hypertension with brachydactyly as a molecular genetic lesson in regulatory physiology. ⁵³ ⁶²	Luft FC...Bahring S	12959913	2003
48	Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. ⁵³ ⁶²	Sartorato P...Zennaro MC	12788847	2003
49	Genetic variants of WNK4 in whites and African Americans with hypertension. ⁵³ ⁶²	Erlich PM...DeStefano AL	12719438	2003
50	[Monogenic hypertension]. ⁵³ ⁶²	Bahr V...Diederich S	12715144	2003

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Genes for Pseudohypoaldosteronism

Genes related to Pseudohypoaldosteronism (2 elite genes):

(show all 31)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NR3C2	Nuclear Receptor Subfamily 3 Group C Member 2	Protein Coding	447.08	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	20453518 7883835 17287415 (more) 12788847 12483305 8027248 7962269 11375113 10435675 1659876 19912655 16954160 15134810 11045400 7826888 11344206 2146852 12959913 17317952 7792805 16972228 2172062 7792806 18337591 8027241
2	SCNN1A	Sodium Channel Epithelial 1 Subunit Alpha	Protein Coding	446.23	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	20064610 12530930 16207733
3	WNK4	WNK Lysine Deficient Protein Kinase 4	Protein Coding	48.1	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	15300163 16173916 15796898 (more) 19016006 12715144 12719438 16301342 12522152 15866321 17380208 17360471 16263722 16775035 15883153 12515852 19895753 15309683 16501604 15998707 18701621 12405428
4	WNK1	WNK Lysine Deficient Protein Kinase 1	Protein Coding	47.27	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	16006511 16081417 16709664 (more) 15686619 14611643 12405428 16301342 19895753 16949040 17380208 16263722 16775035 15883153 15866321 14645531 12522152 17951312 15300163 18701621 16501604 15309683 14610273
5	SCNN1B	Sodium Channel Epithelial 1 Subunit Beta	Protein Coding	46.05	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	20064610
6	SCNN1G	Sodium Channel Epithelial 1 Subunit Gamma	Protein Coding	38.63	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	14715854 7593448 20064610 (more) 8640238 9662404 11134129 11463765 15126534 19344080 11045400 16757525 11344206 11857927 15547682 17546235 18547339 11231969
7	KLHL3	Kelch Like Family Member 3	Protein Coding	35.2	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
8	CUL3	Cullin 3	Protein Coding	34.04	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
9	KCNJ1	Potassium Inwardly Rectifying Channel Subfamily J Member 1	Protein Coding	27.15	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	17401586 12589089 19448535
10	SLC12A3	Solute Carrier Family 12 Member 3	Protein Coding	26.92	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15309683
11	SGK1	Serum/Glucocorticoid Regulated Kinase 1	Protein Coding	23.78	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	17317952
12	REN	Renin	Protein Coding	23.74	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15292344
13	PRSS8	Serine Protease 8	Protein Coding	21.81	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15547682
14	NEDD4	NEDD4 E3 Ubiquitin Protein Ligase	Protein Coding	21.41	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15547682
15	ASIC5	Acid Sensing Ion Channel Subunit Family Member 5	Protein Coding	20.86	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12483305 10404817
16	PHA2A	Pseudohypoaldosteronism Type II (Gene A)	Genetic Locus	16.58	GeneCards inferred via : Gene name Summaries (show sections)
17	NR4A1	Nuclear Receptor Subfamily 4 Group A Member 1	Protein Coding	16.56	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9141514 12788847
18	TRPV5	Transient Receptor Potential Cation Channel Subfamily V Member 5	Protein Coding	12.78	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
19	CLDN8	Claudin 8	Protein Coding	12.62	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
20	NR3C1	Nuclear Receptor Subfamily 3 Group C Member 1	Protein Coding	11.56	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
21	CFTR	CF Transmembrane Conductance Regulator	Protein Coding	11.55	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15986094
22	TRPV6	Transient Receptor Potential Cation Channel Subfamily V Member 6	Protein Coding	11.42	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
23	STK39	Serine/Threonine Kinase 39	Protein Coding	8.72	DISEASES inferred ¹⁴
24	CYP21A2	Cytochrome P450 Family 21 Subfamily A Member 2	Protein Coding	8.53	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10915016
25	WNK3	WNK Lysine Deficient Protein Kinase 3	Protein Coding	7.94	DISEASES inferred ¹⁴
26	STK24	Serine/Threonine Kinase 24	Protein Coding	7.73	DISEASES inferred ¹⁴
27	SLC12A1	Solute Carrier Family 12 Member 1	Protein Coding	7.56	DISEASES inferred ¹⁴
28	WNK2	WNK Lysine Deficient Protein Kinase 2	Protein Coding	7.03	DISEASES inferred ¹⁴
29	EPHA3	EPH Receptor A3	Protein Coding	7.02	GeneCards inferred via : Publications (show sections)
30	TRPC5	Transient Receptor Potential Cation Channel Subfamily C Member 5	Protein Coding	7.02	GeneCards inferred via : Publications (show sections)
31	SLC12A2	Solute Carrier Family 12 Member 2	Protein Coding	6.74	DISEASES inferred ¹⁴

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Variations for Pseudohypoaldosteronism

ClinVar genetic disease variations for Pseudohypoaldosteronism:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	NR3C2	NM_000901.5(NR3C2):c.1409C>A (p.Ser470Ter)	SNV	Pathogenic	252501	rs879255348	GRCh37: 4:149356604-149356604 GRCh38: 4:148435452-148435452
2	SCNN1A	NM_001038.6(SCNN1A):c.574del (p.Arg192fs)	DEL	Pathogenic	988230	rs767638989	GRCh37: 12:6472719-6472719 GRCh38: 12:6363553-6363553
3	overlap with 2 genes	GRCh37/hg19 4q31.23(chr4:148911418-149103259)	CN LOSS	Likely Pathogenic	997080		GRCh37: 4:148911418-149103259 GRCh38:

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Expression for Pseudohypoaldosteronism

Search GEO for disease gene expression data for Pseudohypoaldosteronism.

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Pathways for Pseudohypoaldosteronism

Pathways related to Pseudohypoaldosteronism according to GeneCards Suite gene sharing:

(show all 11)

#	Super pathways	Score	Top Affiliating Genes
1	Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁶ Show member pathways Amino acid transport across the plasma membrane ⁶⁶ Bicarbonate transporters ⁶⁶ Cation-coupled Chloride cotransporters ⁶⁶ Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN) ⁶⁶ Defective SLC12A1 causes Bartter syndrome 1 (BS1) ⁶⁶ Defective SLC12A3 causes Gitelman syndrome (GS) ⁶⁶ Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) ⁶⁶ Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT) ⁶⁶ Defective SLC17A5 causes Salla disease (SD) and ISSD ⁶⁶ Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25) ⁶⁶ Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1) ⁶⁶ Defective SLC22A12 causes renal hypouricemia 1 (RHUC1) ⁶⁶ Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1) ⁶⁶ Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP) ⁶⁶ Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI) ⁶⁶ Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) ⁶⁶ Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1) ⁶⁶ Defective SLC26A4 causes Pendred syndrome (PDS) ⁶⁶ Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1) ⁶⁶ Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) ⁶⁶ Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG) ⁶⁶ Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) ⁶⁶ Defective SLC6A5 causes hyperekplexia 3 (HKPX3) ⁶⁶ Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH) ⁶⁶ Defective SLC9A9 causes autism 16 (AUTS16) ⁶⁶ Inositol transporters ⁶⁶ Multifunctional anion exchangers ⁶⁶ Na+/Cl- dependent neurotransmitter transporters ⁶⁶ Organic anion transport ⁶⁶ Organic anion transporters ⁶⁶ Organic cation transport ⁶⁶ Organic cation/anion/zwitterion transport ⁶⁶ Proton/oligopeptide cotransporters ⁶⁶ Proton-coupled monocarboxylate transport ⁶⁶ Proton-coupled neutral amino acid transporters ⁶⁶ Rhesus glycoproteins mediate ammonium transport. ⁶⁶ SLC-mediated transmembrane transport ⁶⁶ Sodium/Calcium exchangers ⁶⁶ Sodium/Proton exchangers ⁶⁶ Sodium-coupled phosphate cotransporters ⁶⁶ Sodium-coupled sulphate, di- and tri-carboxylate transporters ⁶⁶ Transport of bile salts and organic acids, metal ions and amine compounds ⁶⁶ Transport of small molecules ⁶⁶ Type II Na+/Pi cotransporters ⁶⁶ Variant SLC6A14 may confer susceptibility towards obesity ⁶⁶	13.11	ASIC5 SCNN1A SCNN1B SCNN1G SGK1 SLC12A3
2	Neuropathic Pain-Signaling in Dorsal Horn Neurons ⁶⁴ Show member pathways Aldosterone Signaling in Epithelial Cells ⁶⁴ Cholera Infection ⁶⁴	12.39	SLC12A3 SCNN1G SCNN1B SCNN1A NEDD4
3	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴	12.38	SCNN1G SCNN1B SCNN1A NR4A1
4	Ion channel transport ⁶⁶ Show member pathways Stimuli-sensing channels ⁶⁶	12.03	WNK4 WNK1 TRPV5 SGK1 SCNN1G SCNN1B
5	Sensory perception of taste ⁶⁶ Show member pathways Class C/3 (Metabotropic glutamate/pheromone receptors) ⁶⁶ Sensory perception of salty taste ⁶⁶ Sensory perception of sour taste ⁶⁶ Sensory perception of sweet, bitter, and umami (glutamate) taste ⁶⁶	11.78	SCNN1G SCNN1B SCNN1A
6	Nuclear receptors ⁷⁴ Show member pathways Nuclear Receptor transcription pathway ⁶⁶ SUMOylation of intracellular receptors ⁶⁶	11.71	NR4A1 NR3C2 NR3C1
7	PI3K / Akt Signaling ³	11.63	WNK4 WNK1 SGK1 NR4A1
8	Glucocorticoid receptor regulatory network ⁶¹	11.5	SGK1 NR4A1 NR3C1
9	CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) ²²	11.1	SCNN1G SCNN1B SCNN1A PRSS8 NEDD4
10	Diuretics Pathway, Pharmacodynamics ⁶⁰	10.69	WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B
11	NO-dependent CFTR activation (normal and CF) ²²	10.55	SCNN1G SCNN1B SCNN1A

Sources

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	10.15	ASIC5 CLDN8 CUL3 KCNJ1 NEDD4 NR3C1
2	membrane	GO:0016021	10.15	ASIC5 CLDN8 KCNJ1 PRSS8 SCNN1A SCNN1B
3	apical plasma membrane	GO:0016324	9.85	TRPV5 SLC12A3 SCNN1G SCNN1B SCNN1A
4	sodium channel complex	GO:0034706	9.1	SCNN1G SCNN1B SCNN1A

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

(show all 28)

#	Name	GO ID	Score	Top Affiliating Genes
1	gene expression	GO:0010467	10.18	WNK4 SCNN1B NR3C1 KLHL3 CUL3
2	sodium ion import across plasma membrane	GO:0098719	10.08	SCNN1G SCNN1B SCNN1A
3	cellular sodium ion homeostasis	GO:0006883	10.06	SCNN1G SCNN1B SCNN1A
4	potassium ion homeostasis	GO:0055075	10.06	WNK1 SLC12A3 SCNN1B KLHL3
5	monoatomic ion homeostasis	GO:0050801	10.04	WNK4 WNK1 KLHL3
6	cellular response to acidic pH	GO:0071468	10.03	SCNN1G SCNN1B SCNN1A
7	monoatomic ion transport	GO:0006811	10.03	WNK4 WNK1 TRPV5 SLC12A3 SCNN1G SCNN1B
8	multicellular organismal water homeostasis	GO:0050891	10.02	SCNN1G SCNN1B SCNN1A
9	sodium ion transport	GO:0006814	10.02	ASIC5 SCNN1A SCNN1B SCNN1G SGK1 SLC12A3
10	renal sodium ion absorption	GO:0070294	10.01	KLHL3 SGK1 WNK4
11	sensory perception of sour taste	GO:0050915	9.99	SCNN1G SCNN1B SCNN1A
12	cellular response to vasopressin	GO:1904117	9.97	SCNN1A SCNN1B SCNN1G
13	sodium ion homeostasis	GO:0055078	9.97	SLC12A3 SCNN1G SCNN1B SCNN1A
14	negative regulation of sodium ion transport	GO:0010766	9.95	WNK4 WNK1 NEDD4
15	cellular chloride ion homeostasis	GO:0030644	9.94	WNK4 WNK1
16	intracellular steroid hormone receptor signaling pathway	GO:0030518	9.93	NR3C2 NR3C1
17	positive regulation of sodium ion transmembrane transporter activity	GO:2000651	9.93	WNK4 WNK1
18	positive regulation of potassium ion import across plasma membrane	GO:1903288	9.92	WNK4 WNK1
19	glucocorticoid receptor signaling pathway	GO:0042921	9.92	NR3C1 NEDD4
20	negative regulation of pancreatic juice secretion	GO:0090188	9.91	WNK1 WNK4
21	cellular response to amiloride	GO:0036254	9.91	SCNN1A SCNN1B SCNN1G
22	regulation of blood pressure	GO:0008217	9.9	REN SCNN1A SCNN1B SCNN1G SGK1 WNK1
23	distal tubule morphogenesis	GO:0072156	9.88	KLHL3 WNK4
24	sensory perception of salty taste	GO:0050914	9.88	SCNN1A SCNN1B SCNN1G
25	sensory perception of taste	GO:0050909	9.78	SCNN1G SCNN1B SCNN1A
26	inorganic cation transmembrane transport	GO:0098662	9.77	SCNN1G SCNN1B SCNN1A
27	cellular response to aldosterone	GO:1904045	9.56	SGK1 SCNN1G SCNN1B SCNN1A
28	sodium ion transmembrane transport	GO:0035725	9.47	WNK4 WNK1 SLC12A3 SCNN1G SCNN1B SCNN1A

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

#	Name	GO ID	Score	Top Affiliating Genes
1	nuclear receptor activity	GO:0004879	9.73	NR4A1 NR3C2 NR3C1
2	chloride channel inhibitor activity	GO:0019869	9.67	WNK4 WNK1
3	WW domain binding	GO:0050699	9.63	SCNN1G SCNN1B SCNN1A
4	potassium channel inhibitor activity	GO:0019870	9.62	WNK4 WNK1
5	sodium channel activity	GO:0005272	9.35	SCNN1G SCNN1B SCNN1A ASIC5
6	ligand-gated sodium channel activity	GO:0015280	9.23	SCNN1G SCNN1B SCNN1A ASIC5

Sources

Sources for Pseudohypoaldosteronism

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

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⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

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¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: PSD003 MIFTS: 46	Pseudohypoaldosteronism Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
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