MCID: HYP120
MIFTS: 40

Hypoaldosteronism

Categories: Rare diseases, Endocrine diseases, Genetic diseases

Aliases & Classifications for Hypoaldosteronism

MalaCards integrated aliases for Hypoaldosteronism:

Name: Hypoaldosteronism 53 55 73

Classifications:



External Ids:

UMLS 73 C0020595

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 microvascular complications of diabetes 3. 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 Hydrocortisone and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and heart, and related phenotypes are cardiovascular system and hematopoietic system

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

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 134)
# Related Disease Score Top Affiliating Genes
1 hyporeninemic hypoaldosteronism 33.5 ACE REN
2 microvascular complications of diabetes 3 29.8 ACE REN
3 diabetes insipidus 29.7 POMC REN
4 hypokalemia 29.3 ACE POMC REN
5 adrenal carcinoma 29.1 CYP11B2 POMC REN
6 chronic kidney failure 28.3 ACE NPPA REN
7 liver cirrhosis 28.3 NPPA REN
8 kidney disease 28.2 ACE NPPA REN
9 hyperreninemic hypoaldosteronism, familial, 2 11.9
10 familial hypoaldosteronism 11.9
11 corticosterone methyloxidase type i deficiency 11.5
12 corticosterone methyloxidase type ii deficiency 11.5
13 corticosterone methyloxidase deficiency 11.4
14 pseudohypoaldosteronism 11.3
15 premature ovarian failure 7 10.9
16 hypoadrenalism 10.9
17 acute adrenal insufficiency 10.3 POMC REN
18 aldosterone-producing adenoma 10.3 CYP11B2 REN
19 inappropriate adh syndrome 10.3 POMC REN
20 adrenal cortical hypofunction 10.3 POMC REN
21 familial glucocorticoid deficiency 10.3 POMC REN
22 apparent mineralocorticoid excess 10.3 POMC REN
23 premenstrual tension 10.2 POMC REN
24 steroid inherited metabolic disorder 10.2 CYP11B2 POMC
25 renal artery obstruction 10.2 ACE REN
26 mineral metabolism disease 10.2 POMC REN
27 hypertensive encephalopathy 10.2 ACE REN
28 hypertensive retinopathy 10.2 ACE REN
29 orthostatic proteinuria 10.2 ACE REN
30 atrial septal defect 4 10.2 ACE REN
31 malignant essential hypertension 10.2 ACE REN
32 anuria 10.2 ACE REN
33 adrenal rest tumor 10.2 CYP11B2 POMC
34 fibromuscular dysplasia 10.1 ACE REN
35 renal hypertension 10.1 ACE REN
36 renal tubular dysgenesis 10.1 ACE REN
37 ureteral disease 10.1 ACE REN
38 liddle syndrome 10.1 CYP11B2 REN
39 aortic coarctation 10.1 ACE CYP11B2
40 diabetes mellitus 10.1
41 interstitial nephritis 10.1 ACE REN
42 oligohydramnios 10.0 ACE REN
43 pulmonary edema 10.0 ACE REN
44 hypertensive heart disease 10.0 ACE CYP11B2
45 polycystic kidney disease 1 with or without polycystic liver disease 10.0 ACE REN
46 renal dysplasia 10.0 ACE REN
47 amyloidosis 10.0
48 postural hypotension 10.0 NPPA REN
49 sleep apnea 9.9 ACE REN
50 iga glomerulonephritis 9.9 ACE REN

Graphical network of the top 20 diseases related to Hypoaldosteronism:



Diseases related to Hypoaldosteronism

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 REN ACE CYP11B2 NPPA POMC
2 hematopoietic system MP:0005397 9.55 POMC REN ACE CYP11B2 NPPA
3 homeostasis/metabolism MP:0005376 9.35 POMC REN ACE CYP11B2 NPPA
4 renal/urinary system MP:0005367 9.02 REN ACE CYP11B2 NPPA POMC

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
1
Hydrocortisone Approved, Vet_approved Phase 4,Not Applicable 50-23-7 5754
2
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
3
Cosyntropin Approved Phase 4,Not Applicable 16960-16-0 16129617
4
Racepinephrine Approved Phase 4 329-65-7 838
5
Butyric Acid Experimental, Investigational Phase 4,Not Applicable 107-92-6 264
6 Hormone Antagonists Phase 4,Not Applicable
7 Hormones Phase 4,Not Applicable
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Not Applicable
9 Cortisol succinate Phase 4,Not Applicable
10 Hydrocortisone 17-butyrate 21-propionate Phase 4,Not Applicable
11 Hydrocortisone acetate Phase 4,Not Applicable
12 Epinephryl borate Phase 4
13 Anti-Inflammatory Agents Phase 4,Phase 2,Not Applicable
14 Hydrocortisone-17-butyrate Phase 4,Not Applicable
15
Enalaprilat Approved Phase 3 76420-72-9 6917719
16
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
17
protease inhibitors Phase 3
18 HIV Protease Inhibitors Phase 3
19 Angiotensin-Converting Enzyme Inhibitors Phase 3
20 Antihypertensive Agents Phase 3
21
Fludrocortisone Approved, Investigational Phase 2 127-31-1 31378
22
Mitotane Approved Not Applicable 53-19-0 4211
23
Nicotinamide Approved, Investigational, Nutraceutical Not Applicable 98-92-0 936
24
Vitamin C Approved, Nutraceutical Not Applicable 50-81-7 5785 54670067
25
Niacin Approved, Investigational, Nutraceutical Not Applicable 59-67-6 938
26
Vitamin A Approved, Nutraceutical, Vet_approved Not Applicable 11103-57-4, 68-26-8 445354
27 glucocorticoids Not Applicable
28 Micronutrients Not Applicable
29 Mineralocorticoids Not Applicable
30 Nicotinic Acids Not Applicable
31 Trace Elements Not Applicable
32 Vitamins Not Applicable
33 Antioxidants Not Applicable
34 Protective Agents Not Applicable
35 Respiratory System Agents
36 Adrenergic Agents
37 Adrenergic Agonists
38 Adrenergic alpha-Agonists
39 Adrenergic beta-Agonists
40 Mydriatics
41 Neurotransmitter Agents
42 Vasoconstrictor Agents
43 Anti-Asthmatic Agents
44 Peripheral Nervous System Agents
45 Estrogens
46 Autonomic Agents
47 Bronchodilator Agents
48 Retinol palmitate Not Applicable
49 Pharmaceutical Solutions Not Applicable
50 Antineoplastic Agents, Hormonal 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

Genetic Tests for Hypoaldosteronism

Anatomical Context for Hypoaldosteronism

MalaCards organs/tissues related to Hypoaldosteronism:

41
Kidney, Testes, Heart, Liver, Adrenal Gland

Publications for Hypoaldosteronism

Articles related to Hypoaldosteronism:

(show top 50) (show all 232)
# Title Authors Year
1
Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance. ( 29582446 )
2018
2
Hyporeninemic hypoaldosteronism in a patient with diabetes mellitus: an unforgettable case report. ( 29662328 )
2018
3
Branchio-oto-renal syndrome presenting with syndrome of hyporeninemic hypoaldosteronism. ( 28937080 )
2017
4
Hyponatremia in an Elderly Patient due to Isolated Hypoaldosteronism Occurring after Licorice Withdrawal. ( 28090048 )
2017
5
A Novel Mutation of the<i>CYP11B2</i>in a Saudi Infant with Primary Hypoaldosteronism. ( 29201470 )
2017
6
Considering Postoperative Functional Hypoaldosteronism after Unilateral Adrenalectomy. ( 28637561 )
2017
7
Hyporeninemic hypoaldosteronism and diabetes mellitus: Pathophysiology assumptions, clinical aspects and implications for management. ( 26981183 )
2016
8
Primary adrenal lymphoma causing hypoaldosteronism in a cat. ( 28491445 )
2016
9
HYPOALDOSTERONISM IN A MATSCHIE'S TREE KANGAROO (DENDROLAGUS MATSCHIEI). ( 27468039 )
2016
10
RelatA+ve hypoaldosteronism in a patient with Wolcott-Rallison syndrome. ( 26433138 )
2015
11
SELECTIVE HYPOALDOSTERONISM: A REVIEW. ( 26121445 )
2015
12
The Aldosterone/Renin Ratio as a Diagnostic Tool for the Diagnosis of Primary Hypoaldosteronism in Newborns and Infants. ( 25968592 )
2015
13
Paraparesis secondary to hypokalaemia with hyporeninemic hypoaldosteronism during pregnancy: a diagnostic dilemma. ( 27757164 )
2013
14
Hyporeninaemic hypoaldosteronism associated with membranous nephropathy: new hypotheses with regard to sodium retention in patients with proteinuria. ( 23712233 )
2013
15
Hyperreninemic hypoaldosteronism in combat-related posttraumatic stress disorder. ( 23736867 )
2013
16
Maternally-inherited diabetes with deafness (MIDD) and hyporeninemic hypoaldosteronism. ( 23295301 )
2012
17
Life threatening hyperkalemia in a neonate with pseudo-hypoaldosteronism. ( 22764468 )
2012
18
A case of primary selective hypoaldosteronism carrying three mutations in the aldosterone synthase (Cyp11b2) gene. ( 22465514 )
2012
19
Diagnosis and management of hypoaldosteronism without hypoadrenocorticism in an alpaca. ( 22380814 )
2012
20
A case of hyporeninemic hypoaldosteronism in the dog. ( 21696443 )
2011
21
Hook effect: a pitfall leading to misdiagnosis of hypoaldosteronism in an infant with pseudohypoaldosteronism. ( 20431271 )
2010
22
Biological and hemodynamic effects of low doses of fludrocortisone and hydrocortisone, alone or in combination, in healthy volunteers with hypoaldosteronism. ( 20631694 )
2010
23
[Primary hypoaldosteronism and moderate bilateral deafness in a child with a homozygous missense mutation (Thr318Met) in the CYP11B2 gene]. ( 20639134 )
2010
24
Hyperpotassemia and bradycardia in a bedridden elderly woman with selective hypoaldosteronism associated with low renin activity. ( 20154436 )
2010
25
Transient type 1 pseudo-hypoaldosteronism: report on an eight-patient series and literature review. ( 19714368 )
2009
26
Hyporeninemic hypoaldosteronism in a child with chronic kidney disease--is this condition renoprotective? ( 19189133 )
2009
27
Treatment for hyperkalemia in hyporeninemic hypoaldosteronism. ( 19404283 )
2009
28
Hyporeninemic hypoaldosteronism from secondary amyloidosis. ( 18670413 )
2008
29
Hypothesis: a simple algorithm to distinguish between hypoaldosteronism and renal aldosterone resistance in patients with persistent hyperkalemia. ( 18518934 )
2008
30
Hyperreninemic hypoaldosteronism syndrome, plasma concentrations of interleukin-6 and outcome in critically ill patients with liver cirrhosis. ( 17906854 )
2008
31
Congenital hypoaldosteronism associated with nails hypothrophy - case report and review of the literature. ( 19239795 )
2008
32
Congenital hypoaldosteronism. ( 18723916 )
2008
33
Comments on &amp;quot;Isolated hypoaldosteronism: an overlooked cause of hyponatraemia&amp;quot;. ( 18395173 )
2008
34
Treating proteinuria in a diabetic patient despite hyperkalaemia due to hyporeninaemic hypoaldosteronism. ( 17379933 )
2007
35
Isolated hypoaldosteronism: An overlooked cause of hyponatraemia. ( 17449401 )
2007
36
Congenital hyperreninemic hypoaldosteronism in Israel: sequence analysis of CYP11B2 gene. ( 16733366 )
2006
37
Congenital hyperreninemic hypoaldosteronism: are there different forms? ( 16733367 )
2006
38
Hyperkalaemia with cyclooxygenase-2 inhibition and hypoaldosteronism. ( 16105165 )
2005
39
Change in the circadian rhythm of blood pressure in pseudo-hypoaldosteronism type 2 in response to thiazide diuretics. ( 15182135 )
2004
40
Up-regulation of the adrenomedullin system mediates hypotension and hypoaldosteronism induced by simulated microgravity. ( 15010855 )
2004
41
[Pseudo-hypoaldosteronisms]. ( 15026708 )
2004
42
Hyperreninemic hypoaldosteronism: a possible etiological factor of septic shock-induced acute renal failure. ( 14551679 )
2003
43
A missense mutation (GGC[435Gly]--&amp;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 )
2002
45
Transient hyporeninemic hypoaldosteronism in acute glomerulonephritis. ( 12432442 )
2002
46
Transient hyperkalemia and hypoaldosteronism in a patient with acute glomerulonephritis. ( 12118500 )
2002
47
Hyporeninemic hypoaldosteronism associated with SjAPgren's syndrome. ( 11893359 )
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 )
2001
50
Congenital hyperreninemic hypoaldosteronism unlinked to the aldosterone synthase (CYP11B2) gene. ( 11701710 )
2001

Variations for Hypoaldosteronism

Expression for Hypoaldosteronism

Search GEO for disease gene expression data for Hypoaldosteronism.

Pathways for Hypoaldosteronism

GO Terms for Hypoaldosteronism

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

# Name GO ID Score Top Affiliating Genes
1 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 9.26 NPPA POMC
2 endopeptidase activity GO:0004175 9.16 ACE REN
3 signaling receptor binding GO:0005102 9.13 NPPA POMC REN
4 neuropeptide hormone activity GO:0005184 8.62 NPPA POMC

Sources for Hypoaldosteronism

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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