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MCID: HYP120
MIFTS: 33

Hypoaldosteronism

Categories: Endocrine diseases, Genetic diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Hypoaldosteronism

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MalaCards integrated aliases for Hypoaldosteronism:

Name: Hypoaldosteronism 20 54 70

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Endocrine diseases
See all MalaCards categories (disease lists)


External Ids:

UMLS 70 C0020595
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Summaries for Hypoaldosteronism

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GARD : 20 Hypoaldosteronism is a condition characterized by the shortage (deficiency) or impaired function of a hormone called aldosterone. The symptoms of this condition include low sodium ( hyponatremia ), too much potassium ( hyperkalemia ), and a condition where the body produces too much acid ( metabolic acidosis ). These symptoms may cause muscle weakness, nausea, heart palpitations, irregular heartbeat, and abnormal blood pressure. Hypoaldosteronism may be described as hyporeninemic (low renin level) or hyperreninemic (high renin level) based on the amount of another chemical produced in the kidneys called renin. Hypoaldosteronism can be caused by other health conditions or medications. Individuals with diabetes, kidney disease, primary adrenal insufficiency, lead poisoning, or severe illness can develop hypoaldosteronism. Certain medications, such as non-steroidal anti-inflammatories, heparin or medications used to treat heart failure can cause hypoaldosteronism. There are rare forms of congenital hypoaldosteronism that can be inherited in families. This condition is diagnosed based on the symptoms and confirmed by various blood tests (plasma renin activity, serum aldosterone, and serum cortisol) The exact incidence of hypoaldosteronism is unknown. This condition is treated depending on the underlying cause for the condition.

MalaCards based summary : Hypoaldosteronism is related to corticosterone methyloxidase type ii deficiency and corticosterone methyloxidase deficiency. 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 Fludrocortisone and Anti-Inflammatory Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, adrenal gland and pituitary, and related phenotype is renal/urinary system.

Wikipedia : 73 Hypoaldosteronism is an endocrinological disorder characterized by decreased levels of the hormone... more...

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Related Diseases for Hypoaldosteronism

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Diseases in the Hypoaldosteronism family:

Familial Hypoaldosteronism Rare Hypoaldosteronism
Early-Onset Familial Hypoaldosteronism Late-Onset Familial Hypoaldosteronism

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

(show top 50) (show all 244)
# Related Disease Score Top Affiliating Genes
1 corticosterone methyloxidase type ii deficiency 32.0 LOC106799834 CYP11B2
2 corticosterone methyloxidase deficiency 31.9 LOC106799834 CYP11B2
3 familial hypoaldosteronism 31.6 LOC106799834 CYP11B2
4 corticosterone methyloxidase type i deficiency 31.4 REN POMC LOC106799834 CYP11B2
5 pseudohypoaldosteronism 31.4 REN CYP11B2
6 hyperaldosteronism, familial, type i 30.9 REN POMC LOC106799834 CYP11B2
7 microvascular complications of diabetes 3 30.3 REN ACE
8 hypokalemia 30.0 REN POMC ACE
9 pseudohyperkalemia, familial, 2, due to red cell leak 29.9 REN CYP11B2 ACE
10 lipoid congenital adrenal hyperplasia 29.9 REN POMC CYP11B2
11 proteinuria, chronic benign 29.9 REN ACE
12 acute kidney failure 29.9 REN NPPA
13 apparent mineralocorticoid excess 29.8 REN CYP11B2
14 familial hyperaldosteronism 29.8 LOC106799834 CYP11B2
15 diabetes insipidus 29.8 REN POMC
16 liddle syndrome 1 29.7 REN CYP11B2
17 left bundle branch hemiblock 29.7 REN ACE
18 urinary tract obstruction 29.5 REN ACE
19 familial glucocorticoid deficiency 29.5 REN POMC CYP11B2
20 adrenal carcinoma 29.5 REN POMC CYP11B2
21 uremia 29.4 REN ACE
22 pure autonomic failure 29.3 REN NPPA ACE
23 nephrotic syndrome 29.2 REN NPPA ACE
24 hypothyroidism 29.2 REN POMC ACE
25 iga glomerulonephritis 29.0 REN ACE
26 liver cirrhosis 28.8 REN NPPA ACE
27 chronic kidney disease 28.5 REN POMC NPPA CYP11B2 ACE
28 diabetes mellitus 28.5 REN POMC NPPA ACE
29 conn's syndrome 28.3 REN POMC NPPA CYP11B2 ACE
30 hyperreninemic hypoaldosteronism, familial, 2 11.1
31 early-onset familial hypoaldosteronism 11.1
32 late-onset familial hypoaldosteronism 11.1
33 premature ovarian failure 7 10.9
34 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.9
35 rare hypoaldosteronism 10.9
36 metabolic acidosis 10.4
37 renal tubular acidosis 10.2
38 glomerulonephritis 10.2
39 microvascular complications of diabetes 4 10.2
40 microvascular complications of diabetes 6 10.2
41 microvascular complications of diabetes 7 10.2
42 amyloidosis 10.1
43 adrenal rest tumor 10.1 POMC CYP11B2
44 acute adrenal insufficiency 10.1 REN POMC
45 premenstrual tension 10.1 REN POMC
46 benign essential hypertension 10.1 REN POMC
47 sleep apnea 10.1 REN ACE
48 adrenal cortical hypofunction 10.1 REN POMC
49 renal artery obstruction 10.1 REN ACE
50 orthostatic proteinuria 10.1 REN ACE

Graphical network of the top 20 diseases related to Hypoaldosteronism:



Diseases related to Hypoaldosteronism
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Symptoms & Phenotypes for Hypoaldosteronism

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MGI Mouse Phenotypes related to Hypoaldosteronism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.02 ACE CYP11B2 NPPA POMC REN
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Drugs & Therapeutics for Hypoaldosteronism

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludrocortisone Approved, Investigational Phase 2 127-31-1 31378
2 Anti-Inflammatory Agents Phase 2
3
Epinephrine Approved, Vet_approved 51-43-4 5816
4
Racepinephrine Approved 329-65-7 838
5 Epinephryl borate
6 Mineralocorticoids
7 Estrogens

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Impact of the Administration of Fludrocortisone on Fluid and Electrolyte Balance in Very Premature Infants: Pilot Study Completed NCT03001089 Phase 2 Oral Fludrocortisone (enteral);Placebo Oral Tablet
2 Prospective Evaluation of Adrenal Function After Living Donor Nephrectomy With or Without Ligation of the Adrenal Vein Completed NCT00251836
3 Ovarian Follicle Function in Patients With Primary Ovarian Insufficiency Completed NCT00001275
4 Investigation of Gene Polymorphisms Influencing Steroid Synthesis and Action in Patients With Deficient Steroid Biosynthesis and Disorders of Sex Development Withdrawn NCT00485186

Search NIH Clinical Center for Hypoaldosteronism

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Genetic Tests for Hypoaldosteronism

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Anatomical Context for Hypoaldosteronism

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MalaCards organs/tissues related to Hypoaldosteronism:

40
Heart, Adrenal Gland, Pituitary, Cortex, Adrenal Cortex, Bone Marrow, Spleen
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Publications for Hypoaldosteronism

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Articles related to Hypoaldosteronism:

(show top 50) (show all 601)
# Title Authors PMID Year
1
Hyperpotassemia and bradycardia in a bedridden elderly woman with selective hypoaldosteronism associated with low renin activity. 61 54
20154436 2010
2
Congenital hyperreninemic hypoaldosteronism in Israel: sequence analysis of CYP11B2 gene. 54 61
16733366 2006
3
Aldosterone synthase deficiency and related disorders. 61 54
15134805 2004
4
A missense mutation (GGC[435Gly]-->AGC[Ser]) in exon 8 of the CYP11B2 gene inherited in Japanese patients with congenital hypoaldosteronism. 54 61
14614232 2003
5
Hyperkalaemia and selective hypoaldosteronism in myotonic dystrophy. 54 61
11874420 2002
6
Congenital hyperreninemic hypoaldosteronism unlinked to the aldosterone synthase (CYP11B2) gene. 61 54
11701710 2001
7
Selective hypoaldosteronism due to combined defects of the conversion from inactive renin to active renin and the aldosterone biosynthesis from corticosterone. 54 61
11423756 2001
8
Genetic analysis of the cytochrome P-450c17alpha (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17alpha-hydroxylase deficiency. 54 61
11422109 2001
9
Type 1 aldosterone synthase deficiency presenting in a middle-aged man. 61 54
11238478 2001
10
Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies. 61 54
10559665 1999
11
Homozygous deletion of arginine-173 in the CYP11B2 gene in a girl with congenital hypoaldosteronism. Corticosterone methyloxidase deficiency type II. 61 54
9838244 1998
12
Changed ratios of glucocorticoids/mineralocorticoids caused by point mutations in the putative I-helix regions of CYP11B1 and CYP11B2. 61 54
8969896 1996
13
Amino acid substitution R384P in aldosterone synthase causes corticosterone methyloxidase type I deficiency. 61 54
7852500 1995
14
The endocrine response to critical illness. 61 54
7808093 1995
15
Age-related changes in the renin-aldosterone system. Physiological effects and clinical implications. 61 54
8324299 1993
16
Dose effect of adrenocorticotropin on aldosterone and cortisol biosynthesis in cultured bovine adrenal glomerulosa cells: in vitro correlate of hyperreninemic hypoaldosteronism. 54 61
1319318 1992
17
Heparin-induced hyperkalemia. 61 54
2180218 1990
18
Cotrimoxazole-induced hyperkalaemia in a patient with known hypoaldosteronism. 61
33664032 2021
19
Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency. 61
33098647 2021
20
COVID-19 and late-onset hypertension with hyporeninaemic hypoaldosteronism. 61
33078526 2021
21
Aldosterone deficiency with a hormone profile mimicking pseudohypoaldosteronism. 61
32809961 2020
22
Ibuprofen-Induced Distal Renal Tubular Acidosis and Hyporeninemic Hypoaldosteronism: Enough NSAID. 61
33012367 2020
23
Primary hypoaldosteronism in a dog with pituitary and adrenal T-cell lymphoma. 61
30390298 2020
24
Metabolic Acidosis, Hyperkalemia, and Renal Unresponsiveness to Aldosterone Syndrome: Response to Treatment with Low-Potassium Diet. 61
33229781 2020
25
Mineralocorticoid Dysfunction during Critical Illness. 61
33377956 2020
26
Mineralocorticoid Dysfunction during Critical Illness: A Review of the Evidence. 61
32501957 2020
27
Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis. 61
32857717 2020
28
[Hyperpothemasia and functional hypoaldosteronism after unilateral adrenalectomy for primary hyperaldosteronism in monorrene patient with chronic renal insufficiency]. 61
32199859 2020
29
The First Reported Case of Hyperreninemic Hypoaldosteronism Due to Mucopolysaccharidosis Disorder. 61
32656005 2020
30
Voriconazole-induced Severe Hyperkalemia Precipitated by Multiple Drug Interactions. 61
32655651 2020
31
Therapeutic Renin Inhibition in Diabetic Nephropathy-A Review of the Physiological Evidence. 61
32231590 2020
32
Type IV RTA in Chronic Adrenal Insufficiency and Concomitant Lisinopril Treatment. 61
33133704 2020
33
Persistent severe hyperkalemia following surgical treatment of aldosterone-producing adenoma. 61
32174989 2020
34
Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia. 61
31447379 2019
35
Hyponatremia in children under 100 days old: incidence and etiologies. 61
31300884 2019
36
Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report. 61
31164167 2019
37
Congenital hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency type I in a Portuguese patient - Case report and review of literature. 61
30864636 2019
38
Adrenal hypoplasia congenita in identical twins. 61
30617386 2019
39
Adrenal Venous Sampling in Primary Aldosteronism: The Usefulness of Contralateral Suppression Index. 61
31565059 2019
40
A physiology-based approach to a patient with hyperkalemic renal tubular acidosis. 61
30048563 2018
41
[Heparin-induced hyperkalaemia - a case report]. 61
30371650 2018
42
Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance. 61
29582446 2018
43
Liddle's-like syndrome associated with nephrotic syndrome secondary to membranous nephropathy: the first case report. 61
29792170 2018
44
Alterations of adrenal steroidomic profiles in preterm infants at birth. 61
28747362 2018
45
Congenital adrenal hyperplasia causing hypertension: an illustrative review. 61
29255217 2018
46
Aldosterone Resistance Due to Tacrolimus: A Case Report. 61
32774097 2018
47
Hyporeninemic hypoaldosteronism in a patient with diabetes mellitus: an unforgettable case report. 61
29662328 2018
48
Diabetes mellitus and hyperkalemic renal tubular acidosis: case reports and literature review. 61
29319780 2017
49
Branchio-oto-renal syndrome presenting with syndrome of hyporeninemic hypoaldosteronism. 61
28937080 2017
50
Prenatal Treatment with Dexamethasone in Suspected Congenital Adrenal Hyperplasia and Orofacial Cleft: a Case Report and Review of the Literature. 61
28845624 2017
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Variations for Hypoaldosteronism

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Expression for Hypoaldosteronism

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Search GEO for disease gene expression data for Hypoaldosteronism.
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Pathways for Hypoaldosteronism

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Pathways related to Hypoaldosteronism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Peptide hormone metabolism 65
Show member pathways
 11.59 REN POMC ACE
2
Metabolism of steroid hormones 65
Show member pathways
 11.16 POMC CYP11B2
3
Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics 60
Show member pathways
 11.03 REN CYP11B2 ACE
4
Renin secretion 36
10.64 REN NPPA ACE
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GO Terms for Hypoaldosteronism

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

# Name GO ID Score Top Affiliating Genes
1 amyloid-beta metabolic process GO:0050435 9.16 REN ACE
2 angiotensin maturation GO:0002003 8.96 REN ACE
3 regulation of blood pressure GO:0008217 8.92 REN POMC NPPA ACE

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

# Name GO ID Score Top Affiliating Genes
1 endopeptidase activity GO:0004175 8.96 REN ACE
2 signaling receptor binding GO:0005102 8.8 REN POMC NPPA
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Sources for Hypoaldosteronism

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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