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

MCID: HYP120 MIFTS: 39	Hypoaldosteronism Categories: Endocrine diseases, Genetic diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Drugs Expand all tables

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Aliases & Classifications for Hypoaldosteronism

MalaCards integrated aliases for Hypoaldosteronism:

Name: Hypoaldosteronism ⁵³ ⁵⁵ ⁷³

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷³ C0020595

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Summaries for Hypoaldosteronism

NIH Rare Diseases : ⁵³ Hypoaldosteronism is a condition characterized by the shortage (deficiency) or impaired function of a hormone called aldosterone. Hypoaldosteronism may be described as hyporeninemic or hyperreninemic depending on renin levels. Hyporeninemic hypoaldosteronism occurs when there is decreased production of aldosterone due to decreased production of renin . Affected individuals typically have kidney (renal) disease due to various conditions, such as diabetes, interstitial nephritis, or multiple myeloma. Hyperreninemic hypoaldosteronism occurs when there is a problem with the production of aldosterone, but renin is produced normally by the kidneys. Common causes of this form of hypoaldosteronism are medications (ACE inhibitors), lead poisoning, severe illness, and aldosterone enzyme defects.

MalaCards based summary : Hypoaldosteronism is related to hyporeninemic hypoaldosteronism and hypokalemia. An important gene associated with Hypoaldosteronism is CYP11B2 (Cytochrome P450 Family 11 Subfamily B Member 2), and among its related pathways/superpathways are Peptide hormone metabolism and Metabolism of steroid hormones. The drugs Epinephrine and Hydrocortisone acetate have been mentioned in the context of this disorder. Affiliated tissues include kidney, cortex and liver, and related phenotypes are cardiovascular system and hematopoietic system

Wikipedia : ⁷⁶ Hypoaldosteronism is an endocrinological disorder characterized decreased levels of the hormone... more...

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Related Diseases for Hypoaldosteronism

Diseases in the Hypoaldosteronism family:

Familial Hypoaldosteronism

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

(show top 50) (show all 135)

#	Related Disease	Score	Top Affiliating Genes
1	hyporeninemic hypoaldosteronism	33.5	ACE REN
2	hypokalemia	29.9	ACE POMC REN
3	diabetes insipidus	29.8	POMC REN
4	adrenal carcinoma	29.6	CYP11B2 POMC REN
5	chronic kidney failure	29.4	ACE NPPA REN
6	kidney disease	29.3	ACE NPPA REN
7	hyperreninemic hypoaldosteronism, familial, 2	12.1
8	familial hypoaldosteronism	12.0
9	corticosterone methyloxidase type i deficiency	11.7
10	corticosterone methyloxidase type ii deficiency	11.6
11	corticosterone methyloxidase deficiency	11.6
12	pseudohypoaldosteronism	11.4
13	adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete	11.1
14	premature ovarian failure 7	11.0
15	hypoadrenalism	11.0
16	diabetes mellitus	10.2
17	amyloidosis	10.1
18	acute adrenal insufficiency	10.1	POMC REN
19	inappropriate adh syndrome	10.1	POMC REN
20	adrenal cortical hypofunction	10.1	POMC REN
21	familial glucocorticoid deficiency	10.1	POMC REN
22	premenstrual tension	10.1	POMC REN
23	systemic lupus erythematosus	10.1
24	glomerulonephritis	10.1
25	lupus erythematosus	10.1
26	renal artery obstruction	10.1	ACE REN
27	mineral metabolism disease	10.1	POMC REN
28	liddle syndrome 1	10.1	CYP11B2 REN
29	hypertension, diastolic	10.1	ACE REN
30	hypertensive encephalopathy	10.1	ACE REN
31	hypertensive retinopathy	10.1	ACE REN
32	renal artery disease	10.1	ACE REN
33	cortisone reductase deficiency	10.1	POMC REN
34	orthostatic proteinuria	10.1	ACE REN
35	malignant essential hypertension	10.0	ACE REN
36	anuria	10.0	ACE REN
37	adrenal rest tumor	10.0	CYP11B2 POMC
38	fibromuscular dysplasia	10.0	ACE REN
39	uveoparotid fever	10.0	ACE POMC
40	renal hypertension	10.0	ACE REN
41	renal tubular dysgenesis	10.0	ACE REN
42	aortic coarctation	10.0	ACE CYP11B2
43	interstitial nephritis	10.0	ACE REN
44	hypertensive heart disease	10.0	ACE CYP11B2
45	obstructive nephropathy	10.0	ACE REN
46	oligohydramnios	10.0	ACE REN
47	carotid artery disease	10.0	ACE REN
48	postural hypotension	10.0	NPPA REN
49	renal dysplasia	10.0	ACE REN
50	familial mediterranean fever	10.0

Graphical network of the top 20 diseases related to Hypoaldosteronism:

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Symptoms & Phenotypes for Hypoaldosteronism

MGI Mouse Phenotypes related to Hypoaldosteronism:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.65	ACE CYP11B2 NPPA POMC REN
2	hematopoietic system	MP:0005397	9.55	ACE CYP11B2 NPPA POMC REN
3	homeostasis/metabolism	MP:0005376	9.35	ACE CYP11B2 NPPA POMC REN
4	renal/urinary system	MP:0005367	9.02	ACE CYP11B2 NPPA POMC REN

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Drugs & Therapeutics for Hypoaldosteronism

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

(show top 50) (show all 52)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Epinephrine

Approved, Vet_approved

Phase 4

51-43-4

5816

Hydrocortisone acetate

Approved, Vet_approved

Phase 4,Not Applicable

50-03-3

Cosyntropin

Approved

Phase 4,Not Applicable

16960-16-0

16129617

Hydrocortisone

Approved, Vet_approved

Phase 4,Not Applicable

50-23-7

5754

Racepinephrine

Approved

Phase 4

329-65-7

838

Hormone Antagonists

Phase 4,Not Applicable

Hormones

Phase 4,Not Applicable

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 4,Not Applicable

Epinephryl borate

Phase 4

Anti-Inflammatory Agents

Phase 4,Phase 2,Not Applicable

Hydrocortisone 17-butyrate 21-propionate

Phase 4,Not Applicable

Cortisol succinate

Phase 4,Not Applicable

Hydrocortisone-17-butyrate

Phase 4,Not Applicable

Enalapril

Approved, Vet_approved

Phase 3

75847-73-3

5362032 40466924

Enalaprilat

Approved

Phase 3

76420-72-9

6917719

HIV Protease Inhibitors

Phase 3

protease inhibitors

Phase 3

Antihypertensive Agents

Phase 3

Angiotensin-Converting Enzyme Inhibitors

Phase 3

Fludrocortisone

Approved, Investigational

Phase 2

127-31-1

31378

Nicotinamide

Approved, Investigational

Not Applicable

98-92-0

936

Mitotane

Approved

Not Applicable

53-19-0

4211

Niacin

Approved, Investigational, Nutraceutical

Not Applicable

59-67-6

938

Vitamin C

Approved, Nutraceutical

Not Applicable

50-81-7

5785 54670067

Vitamin A

Approved, Nutraceutical, Vet_approved

Not Applicable

11103-57-4, 68-26-8

445354

Antioxidants

Not Applicable

Trace Elements

Not Applicable

glucocorticoids

Not Applicable

Protective Agents

Not Applicable

Vitamins

Not Applicable

Mineralocorticoids

Not Applicable

Vitamin B3

Not Applicable

Micronutrients

Not Applicable

Nicotinic Acids

Not Applicable

Neurotransmitter Agents

Vasoconstrictor Agents

Anti-Asthmatic Agents

Adrenergic Agonists

Adrenergic beta-Agonists

Sympathomimetics

Mydriatics

Adrenergic alpha-Agonists

Respiratory System Agents

Peripheral Nervous System Agents

Adrenergic Agents

Bronchodilator Agents

Autonomic Agents

Estrogens

Pharmaceutical Solutions

Not Applicable

Retinol palmitate

Not Applicable

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Determination of Method-specific Normal Cortisol and Adrenal Hormone Responses to the Short Synacthen Test	Completed	NCT00851942	Phase 4	Synacthen (Tetracosactrin)
2	Modified-release Compared to Conventional Hydrocortisone on Diurnal Fatigue in Secondary Hypoadrenalism	Enrolling by invitation	NCT02282150	Phase 4	Hydrocortisone;Plenadren
3	PROACT: Can we Prevent Chemotherapy-related Heart Damage in Patients With Breast Cancer?	Recruiting	NCT03265574	Phase 3	Enalapril
4	Impact of the Administration of Fludrocortisone in Very Premature Infants	Recruiting	NCT03001089	Phase 2	Oral Fludrocortisone (enteral);Placebo Oral Tablet
5	Ascorbic Acid Treatment in Congenital Glucocorticoids and Mineralocorticoids Deficiency Due to NNT Mutation	Unknown status	NCT02838472	Not Applicable	Ascorbic Acid
6	Adrenal Function After Living Kidney Donation	Completed	NCT00251836
7	Ovarian Follicle Function in Patients With Primary Ovarian Failure	Completed	NCT00001275
8	Natriuresis as a Predictor of the Haemodynamic Response to Steroid Replacement Therapy in Patients in Septic Shock	Recruiting	NCT03258619
9	Salivary Free Cortisol Response to Cosyntropin Stimulation Test in Mitotane Treated Patients	Recruiting	NCT03083834	Not Applicable
10	Gene Polymorphisms Influencing Steroid Synthesis and Action	Withdrawn	NCT00485186

Search NIH Clinical Center for Hypoaldosteronism

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Genetic Tests for Hypoaldosteronism

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Anatomical Context for Hypoaldosteronism

MalaCards organs/tissues related to Hypoaldosteronism:

⁴¹

Kidney, Cortex, Liver, Adrenal Gland, Heart, B Cells, Adrenal Cortex

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Publications for Hypoaldosteronism

Articles related to Hypoaldosteronism:

(show top 50) (show all 233)

#	Title	Authors	Year
1	Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance. ( 29582446 )	Turan I....Yuksel B.	2018
2	Hyporeninemic hypoaldosteronism in a patient with diabetes mellitus: an unforgettable case report. ( 29662328 )		2018
3	Primary hypoaldosteronism in a dog with pituitary and adrenal T-cell lymphoma. ( 30390298 )	B?guin JS...Benchekroun G	2018
4	Branchio-oto-renal syndrome presenting with syndrome of hyporeninemic hypoaldosteronism. ( 28937080 )	David J.J....Shanbag P.	2017
5	Hyponatremia in an Elderly Patient due to Isolated Hypoaldosteronism Occurring after Licorice Withdrawal. ( 28090048 )	Hataya Y....Komatsu Y.	2017
6	A Novel Mutation of the<i>CYP11B2</i>in a Saudi Infant with Primary Hypoaldosteronism. ( 29201470 )		2017
7	Considering Postoperative Functional Hypoaldosteronism after Unilateral Adrenalectomy. ( 28637561 )	Starker LF...Perrier ND	2017
8	Hyporeninemic hypoaldosteronism and diabetes mellitus: Pathophysiology assumptions, clinical aspects and implications for management. ( 26981183 )	Sousa A.G....Nunes A.B.	2016
9	Primary adrenal lymphoma causing hypoaldosteronism in a cat. ( 28491445 )	Romine J.F....Elie M.S.	2016
10	HYPOALDOSTERONISM IN A MATSCHIE'S TREE KANGAROO (DENDROLAGUS MATSCHIEI). ( 27468039 )	Whoriskey S.T....Baitchman E.	2016
11	RelatA+ve hypoaldosteronism in a patient with Wolcott-Rallison syndrome. ( 26433138 )	UAsar A....TunAsez E.	2015
12	SELECTIVE HYPOALDOSTERONISM: A REVIEW. ( 26121445 )		2015
13	The Aldosterone/Renin Ratio as a Diagnostic Tool for the Diagnosis of Primary Hypoaldosteronism in Newborns and Infants. ( 25968592 )		2015
14	Paraparesis secondary to hypokalaemia with hyporeninemic hypoaldosteronism during pregnancy: a diagnostic dilemma. ( 27757164 )	Nigam P....Morton A.	2013
15	Hyporeninaemic hypoaldosteronism associated with membranous nephropathy: new hypotheses with regard to sodium retention in patients with proteinuria. ( 23712233 )		2013
16	Hyperreninemic hypoaldosteronism in combat-related posttraumatic stress disorder. ( 23736867 )		2013
17	Maternally-inherited diabetes with deafness (MIDD) and hyporeninemic hypoaldosteronism. ( 23295301 )		2012
18	Life threatening hyperkalemia in a neonate with pseudo-hypoaldosteronism. ( 22764468 )		2012
19	A case of primary selective hypoaldosteronism carrying three mutations in the aldosterone synthase (Cyp11b2) gene. ( 22465514 )		2012
20	Diagnosis and management of hypoaldosteronism without hypoadrenocorticism in an alpaca. ( 22380814 )		2012
21	A case of hyporeninemic hypoaldosteronism in the dog. ( 21696443 )		2011
22	Hook effect: a pitfall leading to misdiagnosis of hypoaldosteronism in an infant with pseudohypoaldosteronism. ( 20431271 )	Akin L....Wudy S.A.	2010
23	Biological and hemodynamic effects of low doses of fludrocortisone and hydrocortisone, alone or in combination, in healthy volunteers with hypoaldosteronism. ( 20631694 )	Laviolle B....Bellissant E.	2010
24	[Primary hypoaldosteronism and moderate bilateral deafness in a child with a homozygous missense mutation (Thr318Met) in the CYP11B2 gene]. ( 20639134 )		2010
25	Hyperpotassemia and bradycardia in a bedridden elderly woman with selective hypoaldosteronism associated with low renin activity. ( 20154436 )		2010
26	Transient type 1 pseudo-hypoaldosteronism: report on an eight-patient series and literature review. ( 19714368 )	BogdanoviA8 R....ParipoviA8 A.	2009
27	Hyporeninemic hypoaldosteronism in a child with chronic kidney disease--is this condition renoprotective? ( 19189133 )	Lee B.H....Choi Y.	2009
28	Treatment for hyperkalemia in hyporeninemic hypoaldosteronism. ( 19404283 )		2009
29	Hyporeninemic hypoaldosteronism from secondary amyloidosis. ( 18670413 )	Takemoto F....Takaichi K.	2008
30	Hypothesis: a simple algorithm to distinguish between hypoaldosteronism and renal aldosterone resistance in patients with persistent hyperkalemia. ( 18518934 )	Adam W.R.	2008
31	Hyperreninemic hypoaldosteronism syndrome, plasma concentrations of interleukin-6 and outcome in critically ill patients with liver cirrhosis. ( 17906854 )		2008
32	Congenital hypoaldosteronism associated with nails hypothrophy - case report and review of the literature. ( 19239795 )		2008
33	Congenital hypoaldosteronism. ( 18723916 )		2008
34	Comments on &quot;Isolated hypoaldosteronism: an overlooked cause of hyponatraemia&quot;. ( 18395173 )		2008
35	Treating proteinuria in a diabetic patient despite hyperkalaemia due to hyporeninaemic hypoaldosteronism. ( 17379933 )	van Nieuwkoop C....Bolk J.H.	2007
36	Isolated hypoaldosteronism: An overlooked cause of hyponatraemia. ( 17449401 )		2007
37	Congenital hyperreninemic hypoaldosteronism in Israel: sequence analysis of CYP11B2 gene. ( 16733366 )	Leshinsky-Silver E....Hanukoglu A.	2006
38	Congenital hyperreninemic hypoaldosteronism: are there different forms? ( 16733367 )	Peter M.	2006
39	Hyperkalaemia with cyclooxygenase-2 inhibition and hypoaldosteronism. ( 16105165 )		2005
40	Change in the circadian rhythm of blood pressure in pseudo-hypoaldosteronism type 2 in response to thiazide diuretics. ( 15182135 )	Uzu T....Yamauchi A.	2004
41	Up-regulation of the adrenomedullin system mediates hypotension and hypoaldosteronism induced by simulated microgravity. ( 15010855 )	Andreis P.G....Mazzocchi G.	2004
42	Hyperreninemic hypoaldosteronism: a possible etiological factor of septic shock-induced acute renal failure. ( 14551679 )	du Cheyron D....Charbonneau P.	2003
43	A missense mutation (GGC[435Gly]--&gt;AGC[Ser]) in exon 8 of the CYP11B2 gene inherited in Japanese patients with congenital hypoaldosteronism. ( 14614232 )		2003
44	Hyperkalaemia and selective hypoaldosteronism in myotonic dystrophy. ( 11874420 )	Misra D....Nylen E.S.	2002
45	Transient hyporeninemic hypoaldosteronism in acute glomerulonephritis. ( 12432442 )	Watanabe T....Nitta K.	2002
46	Transient hyperkalemia and hypoaldosteronism in a patient with acute glomerulonephritis. ( 12118500 )	Opastirakul S....Chartapisak W.	2002
47	Hyporeninemic hypoaldosteronism associated with SjAPgren's syndrome. ( 11893359 )	Onozaki A....Watanabe T.	2002
48	Hyperkalaemia and selective hypoaldosteronism in myotonic dystrophy. ( 11874404 )		2002
49	Selective hypoaldosteronism due to combined defects of the conversion from inactive renin to active renin and the aldosterone biosynthesis from corticosterone. ( 11423756 )	Muto S....Asano Y.	2001
50	Congenital hyperreninemic hypoaldosteronism unlinked to the aldosterone synthase (CYP11B2) gene. ( 11701710 )		2001

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Genes for Hypoaldosteronism

Genes related to Hypoaldosteronism (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CYP11B2	Cytochrome P450 Family 11 Subfamily B Member 2	Protein Coding	28.43	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11701710 11422109 16733366 (more) 7852500 11238478 8969896 9838244 15134805 14614232 10559665
2	REN	Renin	Protein Coding	27.23	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11423756 20154436 8324299 (more) 7808093 2180218 11874420
3	ACE	Angiotensin I Converting Enzyme	Protein Coding	16.74	GeneCards inferred via : Publications (show sections)
4	NPPA	Natriuretic Peptide A	Protein Coding	16.74	GeneCards inferred via : Publications (show sections)
5	POMC	Proopiomelanocortin	Protein Coding	15.14	Novoseek inferred ⁵⁵	1319318

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Variations for Hypoaldosteronism

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Expression for Hypoaldosteronism

Search GEO for disease gene expression data for Hypoaldosteronism.

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Pathways for Hypoaldosteronism

Pathways related to Hypoaldosteronism according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Peptide hormone metabolism ⁶⁶ Show member pathways Glycoprotein hormones ⁶⁶ Insulin processing ⁶⁶ Metabolism of Angiotensinogen to Angiotensins ⁶⁶ Peptide hormone biosynthesis ⁶⁶ Synthesis, secretion, and deacylation of Ghrelin ⁶⁶	11.39	ACE POMC REN
2	Metabolism of steroid hormones ⁶⁶ Show member pathways Androgen biosynthesis ⁶⁶ Estrogen biosynthesis ⁶⁶ Glucocorticoid andamp; Mineralcorticoid Metabolism ¹ glucocorticoid biosynthesis ¹ Glucocorticoid biosynthesis ⁶⁶ mineralocorticoid biosynthesis ¹ Mineralocorticoid biosynthesis ⁶⁶ Pregnenolone biosynthesis ⁶⁶	11.2	CYP11B2 POMC
3	Renin secretion ³⁷	10.97	ACE REN
4	Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics ⁶¹ Show member pathways ACE Inhibitor Pathway ¹ ACE Inhibitor Pathway, Pharmacodynamics ⁶¹ Renin-angiotensin system ³⁷	10.7	ACE CYP11B2 REN

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GO Terms for Hypoaldosteronism

Cellular components related to Hypoaldosteronism according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular region	GO:0005576	9.26	ACE NPPA POMC REN
2	extracellular space	GO:0005615	8.92	ACE NPPA POMC REN

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

#	Name	GO ID	Score	Top Affiliating Genes
1	kidney development	GO:0001822	9.32	ACE REN
2	neuropeptide signaling pathway	GO:0007218	9.26	NPPA POMC
3	amyloid-beta metabolic process	GO:0050435	9.16	ACE REN
4	angiotensin maturation	GO:0002003	8.96	ACE REN
5	regulation of blood pressure	GO:0008217	8.92	ACE NPPA POMC REN

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

#	Name	GO ID	Score	Top Affiliating Genes
1	hormone activity	GO:0005179	9.16	NPPA POMC
2	endopeptidase activity	GO:0004175	8.96	ACE REN
3	signaling receptor binding	GO:0005102	8.8	NPPA POMC REN

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