MCID: HYP120
MIFTS: 35

Hypoaldosteronism

Categories: Endocrine diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Hypoaldosteronism

MalaCards integrated aliases for Hypoaldosteronism:

Name: Hypoaldosteronism 19 75 53 71 33

Classifications:



External Ids:

ICD11 33 1600625317
UMLS 71 C0020595

Summaries for Hypoaldosteronism

GARD: 19 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.

MalaCards based summary: Hypoaldosteronism is related to corticosterone methyloxidase type i deficiency and apparent mineralocorticoid excess. 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, kidney and adrenal gland, and related phenotypes are renal/urinary system and cardiovascular system

Wikipedia: 75 Hypoaldosteronism is an endocrinological disorder characterized by decreased levels of the hormone... more...

Related Diseases for Hypoaldosteronism

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 318)
# Related Disease Score Top Affiliating Genes
1 corticosterone methyloxidase type i deficiency 31.6 REN POMC CYP11B2
2 apparent mineralocorticoid excess 31.4 REN POMC CYP11B2
3 microvascular complications of diabetes 3 30.3 REN ACE
4 hypoadrenocorticism, familial 30.1 REN POMC CYP11B2
5 diabetes insipidus 29.9 REN POMC
6 liddle syndrome 1 29.9 REN POMC CYP11B2
7 lipoid congenital adrenal hyperplasia 29.8 REN POMC CYP11B2
8 hypokalemia 29.8 REN POMC CYP11B2 ACE
9 urinary tract infection 29.8 REN ACE
10 chronic kidney disease 29.7 REN NPPA ACE
11 left bundle branch hemiblock 29.6 REN ACE
12 third-degree atrioventricular block 29.5 REN ACE
13 oligohydramnios 29.5 REN ACE
14 urinary tract obstruction 29.5 REN ACE
15 membranoproliferative glomerulonephritis 29.5 REN ACE
16 uremia 29.5 REN ACE
17 acute kidney failure 29.5 REN NPPA ACE
18 iga glomerulonephritis 29.4 REN ACE
19 pure autonomic failure 29.4 REN NPPA ACE
20 hyperaldosteronism, familial, type i 29.4 REN POMC CYP11B2
21 familial glucocorticoid deficiency 29.4 REN POMC CYP11B2
22 adrenal adenoma 29.4 REN POMC CYP11B2
23 adrenal carcinoma 29.4 REN POMC CYP11B2
24 adrenal cortical carcinoma 29.4 REN POMC CYP11B2
25 nephrogenic diabetes insipidus 29.3 REN NPPA
26 nephrotic syndrome 29.3 REN NPPA ACE
27 orthostatic intolerance 29.2 REN POMC ACE
28 conn's syndrome 29.2 REN POMC NPPA CYP11B2 ACE
29 hypothyroidism 29.2 REN POMC ACE
30 pre-eclampsia 28.9 REN NPPA ACE
31 inappropriate adh syndrome 28.6 REN POMC NPPA ACE
32 diabetes mellitus 28.6 REN POMC NPPA ACE
33 hypertension, essential 28.5 REN POMC NPPA CYP11B2 ACE
34 familial hypoaldosteronism 11.3
35 early-onset familial hypoaldosteronism 11.3
36 late-onset familial hypoaldosteronism 11.3
37 corticosterone methyloxidase type ii deficiency 11.3
38 corticosterone methyloxidase deficiency 11.3
39 hyperreninemic hypoaldosteronism, familial, 2 11.2
40 premature ovarian failure 7 11.0
41 pseudohypoaldosteronism 11.0
42 rare hypoaldosteronism 10.9
43 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.9
44 metabolic acidosis 10.4
45 renal tubular acidosis 10.3
46 microvascular complications of diabetes 4 10.2
47 microvascular complications of diabetes 6 10.2
48 microvascular complications of diabetes 7 10.2
49 glomerulonephritis 10.2
50 kidney disease 10.2

Graphical network of the top 20 diseases related to Hypoaldosteronism:



Diseases related to Hypoaldosteronism

Symptoms & Phenotypes for Hypoaldosteronism

MGI Mouse Phenotypes related to Hypoaldosteronism:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.35 ACE CYP11B2 NPPA POMC REN
2 cardiovascular system MP:0005385 9.02 ACE CYP11B2 NPPA POMC REN

Drugs & Therapeutics for Hypoaldosteronism

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

(show all 6)
# 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
Racepinephrine Approved, Vet_approved 51-43-4, 329-65-7 838 5816
4 Epinephryl borate
5 Estrogens
6 Mineralocorticoids

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

Genetic Tests for Hypoaldosteronism

Anatomical Context for Hypoaldosteronism

Organs/tissues related to Hypoaldosteronism:

MalaCards : Heart, Kidney, Adrenal Gland, Adrenal Cortex, Pituitary, Bone Marrow, Cortex

Publications for Hypoaldosteronism

Articles related to Hypoaldosteronism:

(show top 50) (show all 622)
# Title Authors PMID Year
1
Hyperpotassemia and bradycardia in a bedridden elderly woman with selective hypoaldosteronism associated with low renin activity. 53 62
20154436 2010
2
Congenital hyperreninemic hypoaldosteronism in Israel: sequence analysis of CYP11B2 gene. 53 62
16733366 2006
3
Aldosterone synthase deficiency and related disorders. 53 62
15134805 2004
4
A missense mutation (GGC[435Gly]-->AGC[Ser]) in exon 8 of the CYP11B2 gene inherited in Japanese patients with congenital hypoaldosteronism. 53 62
14614232 2003
5
Hyperkalaemia and selective hypoaldosteronism in myotonic dystrophy. 53 62
11874420 2002
6
Congenital hyperreninemic hypoaldosteronism unlinked to the aldosterone synthase (CYP11B2) gene. 53 62
11701710 2001
7
Selective hypoaldosteronism due to combined defects of the conversion from inactive renin to active renin and the aldosterone biosynthesis from corticosterone. 53 62
11423756 2001
8
Genetic analysis of the cytochrome P-450c17alpha (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17alpha-hydroxylase deficiency. 53 62
11422109 2001
9
Type 1 aldosterone synthase deficiency presenting in a middle-aged man. 53 62
11238478 2001
10
Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies. 53 62
10559665 1999
11
Homozygous deletion of arginine-173 in the CYP11B2 gene in a girl with congenital hypoaldosteronism. Corticosterone methyloxidase deficiency type II. 53 62
9838244 1998
12
Changed ratios of glucocorticoids/mineralocorticoids caused by point mutations in the putative I-helix regions of CYP11B1 and CYP11B2. 53 62
8969896 1996
13
Amino acid substitution R384P in aldosterone synthase causes corticosterone methyloxidase type I deficiency. 53 62
7852500 1995
14
The endocrine response to critical illness. 53 62
7808093 1995
15
Age-related changes in the renin-aldosterone system. Physiological effects and clinical implications. 53 62
8324299 1993
16
Dose effect of adrenocorticotropin on aldosterone and cortisol biosynthesis in cultured bovine adrenal glomerulosa cells: in vitro correlate of hyperreninemic hypoaldosteronism. 53 62
1319318 1992
17
Heparin-induced hyperkalemia. 53 62
2180218 1990
18
Isolated hypoaldosteronism managed by DOCP in a dog with chronic kidney disease and hypercortisolism. 62
36106511 2022
19
Systemic Pseudohypoaldosteronism Type 1 Due to a Novel Mutation in SCNN1B Gene: A Case Report. 62
36447799 2022
20
Leigh-Like Syndrome With a Novel, Complex Phenotype Due to m.10191T>C in Mt-ND3. 62
36249637 2022
21
CIRMI-a new term for a concept worthy of further exploration: a narrative review. 62
35813323 2022
22
[Hyperkalemia due to low-molecular-weight heparin]. 62
35736382 2022
23
Early Renin Recovery After Adrenalectomy in Aldosterone-Producing Adenomas: A Prospective Study. 62
35413743 2022
24
An unusual presentation of primary adrenal insufficiency with new onset type 1 diabetes: case report and review of the literature. 62
34821121 2022
25
Impaired aldosterone response to ACTH without hypoaldosteronism: An unrecognized secretory pattern in search of clinical implications. 62
34590343 2022
26
Clinical manifestations and associated factors in acquired hypoaldosteronism in endocrinological practice. 62
36303866 2022
27
A Novel Frame-Shift Mutation in SCNN1B Identified in a Chinese Family Characterized by Early-Onset Hypertension. 62
35774371 2022
28
Pseudo-hypoaldosteronism secondary to infantile urinary tract infections: role of ultrasound. 62
35073944 2022
29
Ineffectiveness of Intermittent Hemodialysis in a Critically Ill COVID-19 Patient: A Case of Persistent Heparin-Induced Hyperkalemia. 62
35284145 2022
30
Excessive Weight Loss in a Neonate - Novel Mutation Causing Primary Hypoaldosteronism. 62
34939584 2021
31
A rare case of persistent hyperkalaemia. 62
34159796 2021
32
Persistent hypoaldosteronism post-adrenalectomy for primary aldosteronism - a role for pre-operative spironolactone? 62
34695011 2021
33
Nephrogenic Syndrome of Inappropriate Antidiuresis Mimicking Hyporeninemic Hypoaldosteronism: Case Report of Two Infants. 62
34645113 2021
34
Aldosterone signaling defect in young infants: single-center report and review. 62
34243750 2021
35
Cotrimoxazole-induced hyperkalaemia in a patient with known hypoaldosteronism. 62
33664032 2021
36
[Low molecular weight heparin-induced hyperkalemia and hyponatremia. Report of one case]. 62
34479277 2021
37
Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency. 62
33098647 2021
38
COVID-19 and late-onset hypertension with hyporeninaemic hypoaldosteronism. 62
33078526 2021
39
Case Report: Newborns With Pseudohypoaldosteronism Secondary to Excessive Gastrointestinal Losses Through High Output Stoma. 62
34869126 2021
40
Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. 62
33815285 2021
41
Liddle Syndrome due to a Novel c.1713 Deletion in the Epithelial Sodium Channel β-Subunit in a Normotensive Adolescent. 62
33851023 2021
42
Aldosterone deficiency with a hormone profile mimicking pseudohypoaldosteronism. 62
32809961 2020
43
Ibuprofen-Induced Distal Renal Tubular Acidosis and Hyporeninemic Hypoaldosteronism: Enough NSAID. 62
33012367 2020
44
Primary hypoaldosteronism in a dog with pituitary and adrenal T-cell lymphoma. 62
30390298 2020
45
Metabolic Acidosis, Hyperkalemia, and Renal Unresponsiveness to Aldosterone Syndrome: Response to Treatment with Low-Potassium Diet. 62
33229781 2020
46
Mineralocorticoid Dysfunction during Critical Illness: A Review of the Evidence. 62
32501957 2020
47
[Hyperpothemasia and functional hypoaldosteronism after unilateral adrenalectomy for primary hyperaldosteronism in monorrene patient with chronic renal insufficiency]. 62
32199859 2020
48
Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis. 62
32857717 2020
49
The First Reported Case of Hyperreninemic Hypoaldosteronism Due to Mucopolysaccharidosis Disorder. 62
32656005 2020
50
Voriconazole-induced Severe Hyperkalemia Precipitated by Multiple Drug Interactions. 62
32655651 2020

Variations for Hypoaldosteronism

Expression for Hypoaldosteronism

Search GEO for disease gene expression data for Hypoaldosteronism.

Pathways for Hypoaldosteronism

GO Terms for Hypoaldosteronism

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 9.46 REN ACE
2 blood vessel diameter maintenance GO:0097746 9.43 NPPA ACE
3 angiotensin maturation GO:0002003 9.26 REN ACE
4 regulation of blood pressure GO:0008217 9.23 REN POMC NPPA ACE

Sources for Hypoaldosteronism

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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