AME
MCID: APP015
MIFTS: 56

Apparent Mineralocorticoid Excess (AME)

Categories: Cardiovascular diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Apparent Mineralocorticoid Excess

MalaCards integrated aliases for Apparent Mineralocorticoid Excess:

Name: Apparent Mineralocorticoid Excess 57 19 58 75 73 28 5 38 71
Cortisol 11-Beta-Ketoreductase Deficiency 57 11 19 73 71
Apparent Mineralocorticoid Excess Syndrome 11 14 16 75
Ame 57 19 73
11-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 2 11 58
Mineralocorticoid Excess Syndrome, Apparent 43 71
Ulick Syndrome 11 58
Ame1 57 73
11 Beta Hydroxysteroid Dehydrogenase Type 2 Deficiency 75
Syndrome of Apparent Mineralocorticoid Excess 11
Ame 1 19

Characteristics:


Inheritance:

Autosomal recessive 58 57

Age Of Onset:

Infancy,Neonatal 58

Age Of Death:

any age 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
variable severity
onset usually in infancy or childhood
favorable response to spironolactone


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare renal diseases
Rare endocrine diseases


External Ids:

Disease Ontology 11 DOID:4367
OMIM® 57 218030
MeSH 43 D043204
NCIt 49 C123231
SNOMED-CT 68 237770005
MESH via Orphanet 44 C537422 D043204
ICD10 via Orphanet 32 E26.1
UMLS via Orphanet 72 C0342488 C2936861 C3887949
Orphanet 58 ORPHA320
UMLS 71 C0342488 C2936861 C3887949

Summaries for Apparent Mineralocorticoid Excess

OMIM®: 57 Apparent mineralocorticoid excess (AME) is an autosomal recessive form of low-renin hypertension associated with low aldosterone, metabolic alkalosis, hypernatremia, and hypokalemia. The disorder is due to a congenital defect in 11-beta-hydroxysteroid dehydrogenase type II (HSD11B2) activity, resulting in decreased conversion of biologically active cortisol to inactive cortisone; this defect allows cortisol to act as a ligand for the mineralocorticoid receptor, resulting in sodium retention and volume expansion. There is a favorable therapeutic response to spironolactone (review by Ferrari, 2010). (218030) (Updated 24-Oct-2022)

MalaCards based summary: Apparent Mineralocorticoid Excess, also known as cortisol 11-beta-ketoreductase deficiency, is related to hypertensive retinopathy and hypoaldosteronism. An important gene associated with Apparent Mineralocorticoid Excess is HSD11B2 (Hydroxysteroid 11-Beta Dehydrogenase 2), and among its related pathways/superpathways are Metabolism of steroids and "Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics". The drugs Licorice and Enoxolone have been mentioned in the context of this disorder. Affiliated tissues include kidney, placenta and brain, and related phenotypes are hypertension and hypokalemia

Disease Ontology: 11 A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has material basis in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16.

UniProtKB/Swiss-Prot: 73 An autosomal recessive form of low-renin hypertension. It is usually diagnosed within the first years of life and is characterized by polyuria and polydipsia, failure to thrive, hypernatremia, severe hypertension with low renin and aldosterone levels, profound hypokalemia with metabolic alkalosis, and most often nephrocalcinosis.

GARD: 19 A rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.

Orphanet: 58 A rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.

Wikipedia: 75 Apparent mineralocorticoid excess is an autosomal recessive disorder causing hypertension (high blood... more...

Related Diseases for Apparent Mineralocorticoid Excess

Diseases related to Apparent Mineralocorticoid Excess via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 158)
# Related Disease Score Top Affiliating Genes
1 hypertensive retinopathy 30.8 REN NR3C2
2 hypoaldosteronism 30.6 REN POMC CYP11B2
3 nephrocalcinosis 30.3 SLC12A3 KCNJ1 HSD11B2
4 tricuspid valve insufficiency 30.3 REN NR3C2
5 adenoma 29.7 REN POMC HSD11B2 CYP11B2 CYP11B1
6 cortisone reductase deficiency 29.5 POMC HSD11B2 HSD11B1 CYP11B2 CYP11B1
7 hypokalemia 29.3 WNK4 SLC12A3 REN POMC NR3C2 KCNJ1
8 lipoid congenital adrenal hyperplasia 28.8 SCNN1B REN POMC NR3C2 HSD11B2 HSD11B1
9 adrenal adenoma 28.7 REN POMC NR3C2 HSD11B2 HSD11B1 CYP11B2
10 pseudohypoaldosteronism 28.6 WNK4 SLC12A3 SCNN1B REN NR3C2 KCNJ1
11 hyperaldosteronism, familial, type i 28.5 WNK4 SCNN1B REN POMC NR3C2 HSD11B2
12 conn's syndrome 27.9 WNK4 SLC12A3 SCNN1B REN POMC NR3C2
13 liddle syndrome 1 27.8 WNK4 SLC12A3 SCNN1B REN POMC NR3C2
14 hypertension, essential 27.8 WNK4 SLC12A3 SCNN1B REN POMC NR3C2
15 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 10.6
16 supine hypotensive syndrome 10.2 REN NR3C2
17 hypothyroidism 10.2
18 pituitary-dependent cushing's disease 10.2
19 left bundle branch hemiblock 10.2 REN NR3C2
20 diastolic heart failure 10.2 REN NR3C2
21 malignant secondary hypertension 10.2 REN CYP11B2
22 systolic heart failure 10.2 REN NR3C2
23 corticosteroid-binding globulin deficiency 10.1 POMC HSD11B2
24 premenstrual tension 10.1 REN POMC
25 central pontine myelinolysis 10.1 REN POMC
26 mitral valve stenosis 10.1 REN NR3C2
27 atypical depressive disorder 10.1 POMC NR3C2
28 cortisone reductase deficiency 2 10.1 POMC HSD11B1
29 alzheimer disease 16 10.1 POMC ENSG00000275987
30 renovascular hypertension 10.1 REN NR3C2
31 anuria 10.1 REN NR3C2 HSD11B2
32 diabetes insipidus, neurohypophyseal 10.1 REN POMC
33 tricuspid valve disease 10.1 REN NR3C2
34 inappropriate adh syndrome 10.1 REN POMC
35 postpartum depression 10.1 POMC HSD11B2
36 intracranial hypertension, idiopathic 10.1 POMC HSD11B1
37 acromegaly 10.1
38 pituitary adenoma 10.1
39 hypertensive heart disease 10.1 REN NR3C2 CYP11B2
40 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.1 POMC CYP11B1
41 mitral valve insufficiency 10.1 REN NR3C2
42 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.0
43 cystic fibrosis 10.0
44 ventricular fibrillation, paroxysmal familial, 1 10.0
45 cortisone reductase deficiency 1 10.0
46 premature ovarian failure 7 10.0
47 glucocorticoid resistance, generalized 10.0
48 cardiac arrest 10.0
49 pre-eclampsia 10.0
50 diarrhea 10.0

Graphical network of the top 20 diseases related to Apparent Mineralocorticoid Excess:



Diseases related to Apparent Mineralocorticoid Excess

Symptoms & Phenotypes for Apparent Mineralocorticoid Excess

Human phenotypes related to Apparent Mineralocorticoid Excess:

58 30 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000822
2 hypokalemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002900
3 decreased circulating renin level 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003351
4 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
HP:0001508
5 short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0004322
6 polydipsia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001959
7 nephrocalcinosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000121
8 decreased circulating aldosterone level 58 30 Frequent (33%) Frequent (79-30%)
HP:0004319
9 hypokalemic metabolic alkalosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001960
10 abnormality of circulating cortisol level 58 30 Frequent (33%) Frequent (79-30%)
HP:0011731
11 abnormal urine sodium concentration 58 30 Frequent (33%) Frequent (79-30%)
HP:0012603
12 renal insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000083
13 intrauterine growth retardation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001511
14 left ventricular hypertrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001712
15 stroke 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001297
16 hypertensive retinopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001095
17 growth delay 30 HP:0001510
18 small for gestational age 30 HP:0001518
19 metabolic alkalosis 30 HP:0200114
20 renal sodium wasting 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Growth Other:
failure to thrive

Growth Height:
short stature

Metabolic Features:
metabolic alkalosis

Genitourinary Kidneys:
increased renal salt reabsorption
kidney failure if untreated

Cardiovascular Vascular:
hypertension

Laboratory Abnormalities:
hypokalemia
low plasma renin activity
decreased serum aldosterone
increased urinary cortisol/cortisone ratio

Growth Weight:
low birth weight

Clinical features from OMIM®:

218030 (Updated 24-Oct-2022)

MGI Mouse Phenotypes related to Apparent Mineralocorticoid Excess:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.96 CYP11B1 CYP11B2 HSD11B2 KCNJ1 NR3C2 POMC
2 homeostasis/metabolism MP:0005376 9.7 CYP11B1 CYP11B2 HSD11B1 HSD11B2 KCNJ1 NR3C2
3 muscle MP:0005369 9.63 CYP11B1 CYP11B2 HSD11B1 HSD11B2 NR3C2 REN
4 cardiovascular system MP:0005385 9.36 CYP11B1 CYP11B2 HSD11B1 HSD11B2 KCNJ1 NR3C2

Drugs & Therapeutics for Apparent Mineralocorticoid Excess

Drugs for Apparent Mineralocorticoid Excess (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Licorice Approved Phase 2, Phase 3
2
Enoxolone Investigational Phase 2, Phase 3 471-53-4 3230 18526330 10114
3 Mineralocorticoids Phase 2, Phase 3
4 Anti-Inflammatory Agents Phase 2, Phase 3
5
Hydrocortisone Approved, Vet_approved 50-23-7 3640 5754
6
Hydrocortisone succinate Approved 2203-97-6 3643
7
Hydrocortisone acetate Approved, Vet_approved 50-03-3
8
Cortisone Experimental 53-06-5 222786
9 Hydrocortisone 17-butyrate 21-propionate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Role of Mineralocorticoid Receptors in Vascular Function Completed NCT00759525 Phase 2, Phase 3 Glycyrrhetic Acid;Placebo
2 An Investigation Into the Effect of Liquorice Ingestion on the Salivary Cortisol to Cortisone Molar Ratio Completed NCT02939144
3 Apparent Mineralocorticoid Excess Syndrome Natural History Clinical Protocol Completed NCT00474942

Search NIH Clinical Center for Apparent Mineralocorticoid Excess

Cochrane evidence based reviews: mineralocorticoid excess syndrome, apparent

Genetic Tests for Apparent Mineralocorticoid Excess

Genetic tests related to Apparent Mineralocorticoid Excess:

# Genetic test Affiliating Genes
1 Apparent Mineralocorticoid Excess 28 HSD11B2

Anatomical Context for Apparent Mineralocorticoid Excess

Organs/tissues related to Apparent Mineralocorticoid Excess:

MalaCards : Kidney, Placenta, Brain, Prostate, Colon, Liver, Skin

Publications for Apparent Mineralocorticoid Excess

Articles related to Apparent Mineralocorticoid Excess:

(show top 50) (show all 370)
# Title Authors PMID Year
1
Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess. 62 57 5
17314322 2007
2
Molecular basis for hypertension in the "type II variant" of apparent mineralocorticoid excess. 62 57 5
9683587 1998
3
Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase. 62 57 5
7670488 1995
4
A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess. 62 57 5
7608290 1995
5
Congenital 11 beta-hydroxysteroid dehydrogenase deficiency associated with juvenile hypertension: corticosteroid metabolite profiles of four patients and their families. 57 5
3860318 1985
6
The role of 11β-hydroxysteroid dehydrogenase type 2 in human hypertension. 62 57
19909806 2010
7
In vitro expression studies of a novel mutation delta299 in a patient affected with apparent mineralocorticoid excess. 62 5
15126515 2004
8
Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. 62 5
12788846 2003
9
Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess. 62 57
10523339 1999
10
Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. 62 57
10536001 1999
11
The codon 213 of the 11beta-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess. 62 5
9851783 1998
12
A genetic defect resulting in mild low-renin hypertension. 62 57
9707624 1998
13
A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. 62 5
9398712 1997
14
The R337C mutation generates a high Km 11 beta-hydroxysteroid dehydrogenase type II enzyme in a family with apparent mineralocorticoid excess. 62 5
7593456 1995
15
Apparent mineralocorticoid excess type II. 62 57
8191552 1994
16
Defects in the HSD11 gene encoding 11 beta-hydroxysteroid dehydrogenase are not found in patients with apparent mineralocorticoid excess or 11-oxoreductase deficiency. 62 57
8370690 1993
17
Pathogenesis of the type 2 variant of the syndrome of apparent mineralocorticoid excess. 62 57
2403571 1990
18
Syndrome of apparent mineralocorticoid excess. A defect in the cortisol-cortisone shuttle. 62 57
3164727 1988
19
The syndrome of apparent mineralocorticoid excess: its association with 11 beta-dehydrogenase and 5 beta-reductase deficiency and some consequences for corticosteroid metabolism. 62 57
3460996 1986
20
A syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisol. 62 57
226561 1979
21
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 5
33532864 2022
22
Evidence for an unidentified steroid in a child with apparent mineralocorticoid hypertension. 57
870517 1977
23
Gene expression in cell lines from human ameloblastoma immortalized using hTERT and HPV16-E6/E7. 62
34060687 2022
24
Gelation of konjac glucomannan by acetylmannan esterases from Aspergillus oryzae. 62
35691189 2022
25
Clinical, biochemical, and miRNA profile of subjects with positive screening of primary aldosteronism and nonclassic apparent mineralocorticoid excess. 62
35676467 2022
26
Monogenic forms of low-renin hypertension: clinical and molecular insights. 62
34414500 2022
27
Apparent mineralocorticoid excess: A diagnosis beyond classical causes of severe hypertension in a child. 62
35044984 2022
28
Interrogation of Novel Aldosterone-induced Genes Associated With Acute Stimulation Of ENaC In Primary Collecting Duct Cells. 62
35556390 2022
29
Mice with Brain-Specific Deletion of Hsd11b2 have an impaired renal vascular and tubular response to high salt intake. 62
35560372 2022
30
[Clinical and HSD11B2 gene analysis of a patient with apparent mineralocorticoid excess]. 62
35488644 2022
31
Antifungal Therapy with Azoles Induced the Syndrome of Acquired Apparent Mineralocorticoid Excess: a Literature and Database Analysis. 62
34662186 2022
32
Cytotoxic Effects of Alternariol, Alternariol Monomethyl-Ether, and Tenuazonic Acid and Their Relevant Combined Mixtures on Human Enterocytes and Hepatocytes. 62
35531275 2022
33
Aging-related features predict prognosis and immunotherapy efficacy in hepatocellular carcinoma. 62
36189258 2022
34
Kinetochore Architecture Employs Diverse Linker Strategies Across Evolution. 62
35800888 2022
35
Extending the endocrine hypertension spectrum: novel nonclassic apparent mineralocorticoid excess. 62
34101110 2021
36
A life-threatening case of pseudo-aldosteronism secondary to excessive liquorice ingestion. 62
34362360 2021
37
Novel metabolomic profile of subjects with non-classic apparent mineralocorticoid excess. 62
34433879 2021
38
Cdc4 phospho-degrons allow differential regulation of Ame1CENP-U protein stability across the cell cycle. 62
34308839 2021
39
Abnormal neonatal sodium handling in skin precedes hypertension in the SAME rat. 62
34028587 2021
40
Impaired Distal Tubular Acidification, Renal Cysts and Nephrocalcinosis in Monogenic Hypertension. 62
33236328 2021
41
ERRATUM FOR: "Classic and Nonclassic Apparent Mineralocorticoid Excess Syndrome". 62
33438719 2021
42
Species-specific differences in the inhibition of 11β-hydroxysteroid dehydrogenase 2 by itraconazole and posaconazole. 62
33387577 2021
43
Bridgin connects the outer kinetochore to centromeric chromatin. 62
33420015 2021
44
HIF-1α Is Associated with Resistance to Hypoxia-Induced Apoptosis in Ameloblastoma. 62
34987583 2021
45
Detection of Urinary Exosomal HSD11B2 mRNA Expression: A Useful Novel Tool for the Diagnostic Approach of Dysfunctional 11β-HSD2-Related Hypertension. 62
34497581 2021
46
Apparent Mineralocorticoid Excess: Research as an Art Form. 62
32990924 2020
47
Apparent mineralocorticoid excess caused by novel compound heterozygous mutations in HSD11B2 and characterized by early-onset hypertension and hypokalemia. 62
32816205 2020
48
Posaconazole-Induced Apparent Mineralocorticoid Excess. 62
33305136 2020
49
Trick or Treat? Licorice-Induced Hypokalemia: A Case Report. 62
33391895 2020
50
Licorice-induced apparent mineralocorticoid excess causing persistent hypertension and hypokalemia. 62
34084245 2020

Variations for Apparent Mineralocorticoid Excess

ClinVar genetic disease variations for Apparent Mineralocorticoid Excess:

5 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HSD11B2 NM_000196.4(HSD11B2):c.637C>T (p.Arg213Cys) SNV Pathogenic
12094 rs28934591 GRCh37: 16:67470018-67470018
GRCh38: 16:67436115-67436115
2 HSD11B2 NM_000196.4(HSD11B2):c.1009C>T (p.Arg337Cys) SNV Pathogenic
12095 rs121917781 GRCh37: 16:67470697-67470697
GRCh38: 16:67436794-67436794
3 HSD11B2 NM_000196.4(HSD11B2):c.623G>A (p.Arg208His) SNV Pathogenic
12096 rs28934592 GRCh37: 16:67470004-67470004
GRCh38: 16:67436101-67436101
4 HSD11B2 NM_000196.4(HSD11B2):c.835C>T (p.Arg279Cys) SNV Pathogenic
12098 rs28934594 GRCh37: 16:67470523-67470523
GRCh38: 16:67436620-67436620
5 HSD11B2 NM_000196.4(HSD11B2):c.667G>A (p.Asp223Asn) SNV Pathogenic
12101 rs121917833 GRCh37: 16:67470154-67470154
GRCh38: 16:67436251-67436251
6 HSD11B2 NM_000196.4(HSD11B2):c.664+14C>T SNV Pathogenic
31130 rs376023420 GRCh37: 16:67470059-67470059
GRCh38: 16:67436156-67436156
7 HSD11B2 NM_000196.4(HSD11B2):c.1012T>C (p.Tyr338His) SNV Pathogenic
31131 rs387907117 GRCh37: 16:67470700-67470700
GRCh38: 16:67436797-67436797
8 HSD11B2 NM_000196.4(HSD11B2):c.77_78del (p.Arg25_Ser26insTer) DEL Pathogenic
31132 rs794726684 GRCh37: 16:67465228-67465229
GRCh38: 16:67431325-67431326
9 HSD11B2 NM_000196.4(HSD11B2):c.1020del (p.Gly341fs) DEL Pathogenic
974390 rs2040979235 GRCh37: 16:67470705-67470705
GRCh38: 16:67436802-67436802
10 HSD11B2 NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp) SNV Pathogenic
447525 rs1555518481 GRCh37: 16:67469531-67469531
GRCh38: 16:67435628-67435628
11 HSD11B2 NM_000196.4(HSD11B2):c.1010_1012del (p.Arg337_Tyr338delinsHis) DEL Pathogenic
12097 rs397509434 GRCh37: 16:67470698-67470700
GRCh38: 16:67436795-67436797
12 HSD11B2 NM_000196.4(HSD11B2):c.895_897del (p.Tyr299del) DEL Pathogenic
12102 rs794726670 GRCh37: 16:67470581-67470583
GRCh38: 16:67436678-67436680
13 HSD11B2 NM_000196.4(HSD11B2):c.983C>T (p.Ala328Val) SNV Likely Pathogenic
974391 rs1453036708 GRCh37: 16:67470671-67470671
GRCh38: 16:67436768-67436768
14 HSD11B2 NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) SNV Likely Pathogenic
12093 rs121917780 GRCh37: 16:67470003-67470003
GRCh38: 16:67436100-67436100
15 HSD11B2 NM_000196.4(HSD11B2):c.1010G>T (p.Arg337Leu) SNV Uncertain Significance
1028126 rs28934593 GRCh37: 16:67470698-67470698
GRCh38: 16:67436795-67436795
16 HSD11B2 NM_000196.4(HSD11B2):c.272A>C (p.Asp91Ala) SNV Uncertain Significance
438714 rs1356598056 GRCh37: 16:67469537-67469537
GRCh38: 16:67435634-67435634
17 HSD11B2 NM_000196.4(HSD11B2):c.220_222delinsGG (p.Arg74fs) INDEL Uncertain Significance
623310 rs1567529174 GRCh37: 16:67465371-67465373
GRCh38: 16:67431468-67431470
18 HSD11B2 NM_000196.4(HSD11B2):c.343_348del (p.Glu115_Leu116del) DEL Uncertain Significance
12100 rs794726669 GRCh37: 16:67469605-67469610
GRCh38: 16:67435702-67435707
19 HSD11B2 NM_000196.4(HSD11B2):c.956_964dup (p.Val321_Val322insAlaProVal) DUP Uncertain Significance
623311 rs1567530910 GRCh37: 16:67470643-67470644
GRCh38: 16:67436740-67436741
20 HSD11B2 NM_000196.4(HSD11B2):c.710C>T (p.Ala237Val) SNV Uncertain Significance
800834 rs1309642469 GRCh37: 16:67470197-67470197
GRCh38: 16:67436294-67436294
21 HSD11B2 NM_000196.4(HSD11B2):c.468C>A (p.Thr156=) SNV Benign
586028 rs5479 GRCh37: 16:67469733-67469733
GRCh38: 16:67435830-67435830
22 HSD11B2 NM_000196.4(HSD11B2):c.534G>A (p.Glu178=) SNV Benign
586029 rs45483293 GRCh37: 16:67469915-67469915
GRCh38: 16:67436012-67436012
23 HSD11B2 NM_000196.4(HSD11B2):c.588G>A (p.Ala196=) SNV Benign
36369 rs5480 GRCh37: 16:67469969-67469969
GRCh38: 16:67436066-67436066

UniProtKB/Swiss-Prot genetic disease variations for Apparent Mineralocorticoid Excess:

73 (show all 14)
# Symbol AA change Variation ID SNP ID
1 HSD11B2 p.Arg208Cys VAR_006958 rs121917780
2 HSD11B2 p.Arg213Cys VAR_006959 rs28934591
3 HSD11B2 p.Leu179Arg VAR_015635
4 HSD11B2 p.Ser180Phe VAR_015636
5 HSD11B2 p.Arg186Cys VAR_015637 rs768507002
6 HSD11B2 p.Arg208His VAR_015638 rs28934592
7 HSD11B2 p.Ala237Val VAR_015640 rs1309642469
8 HSD11B2 p.Asp244Asn VAR_015641
9 HSD11B2 p.Leu250Arg VAR_015642
10 HSD11B2 p.Arg279Cys VAR_015644 rs28934594
11 HSD11B2 p.Ala328Val VAR_015645 rs1453036708
12 HSD11B2 p.Tyr338His VAR_015646 rs387907117
13 HSD11B2 p.Asp223Asn VAR_066514 rs121917833
14 HSD11B2 p.Arg337Cys VAR_066515 rs121917781

Expression for Apparent Mineralocorticoid Excess

Search GEO for disease gene expression data for Apparent Mineralocorticoid Excess.

Pathways for Apparent Mineralocorticoid Excess

Pathways related to Apparent Mineralocorticoid Excess according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.11 POMC HSD11B2 HSD11B1 CYP11B2 CYP11B1
2
Show member pathways
11.49 REN NR3C2 CYP11B2
3
Show member pathways
11.01 POMC HSD11B2 HSD11B1 CYP11B2 CYP11B1
4 10.85 CYP11B2 CYP11B1
5 10.72 WNK4 SLC12A3 SCNN1B KCNJ1

GO Terms for Apparent Mineralocorticoid Excess

Biological processes related to Apparent Mineralocorticoid Excess according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 sodium ion transmembrane transport GO:0035725 10.01 WNK4 SLC12A3 SCNN1B
2 response to xenobiotic stimulus GO:0009410 9.97 WNK4 SCNN1B REN HSD11B2
3 response to food GO:0032094 9.87 SCNN1B HSD11B2
4 sterol metabolic process GO:0016125 9.86 CYP11B2 CYP11B1
5 cellular response to peptide hormone stimulus GO:0071375 9.85 CYP11B2 CYP11B1
6 response to dietary excess GO:0002021 9.83 WNK4 SLC12A3
7 cellular response to potassium ion GO:0035865 9.81 CYP11B1 CYP11B2
8 potassium ion homeostasis GO:0055075 9.8 SLC12A3 SCNN1B CYP11B2
9 glucocorticoid biosynthetic process GO:0006704 9.78 CYP11B2 CYP11B1
10 C21-steroid hormone biosynthetic process GO:0006700 9.76 CYP11B2 CYP11B1
11 aldosterone biosynthetic process GO:0032342 9.73 CYP11B1 CYP11B2
12 cortisol biosynthetic process GO:0034651 9.71 CYP11B1 CYP11B2
13 regulation of blood volume by renal aldosterone GO:0002017 9.67 HSD11B2 CYP11B2
14 steroid metabolic process GO:0008202 9.65 HSD11B2 HSD11B1 CYP11B2 CYP11B1
15 sodium ion homeostasis GO:0055078 9.63 SLC12A3 SCNN1B CYP11B2
16 regulation of blood pressure GO:0008217 9.56 SCNN1B REN POMC CYP11B1
17 cortisol metabolic process GO:0034650 9.1 HSD11B2 CYP11B2 CYP11B1

Molecular functions related to Apparent Mineralocorticoid Excess according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.73 HSD11B2 HSD11B1 CYP11B2 CYP11B1
2 steroid binding GO:0005496 9.63 NR3C2 HSD11B2 HSD11B1
3 corticosterone 18-monooxygenase activity GO:0047783 9.26 CYP11B2 CYP11B1
4 steroid 11-beta-monooxygenase activity GO:0004507 8.92 CYP11B2 CYP11B1

Sources for Apparent Mineralocorticoid Excess

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 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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