AME
MCID: APP001

Apparent Mineralocorticoid Excess Syndrome malady

Summaries for Apparent Mineralocorticoid Excess Syndrome

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44Wikipedia, 22MalaCards
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Wikipedia: Apparent mineralocorticoid excess (AME) is an autosomal recessive disorder causing hypertension (high...44 more...

MalaCards: Apparent Mineralocorticoid Excess Syndrome, also known as cortisol 11-beta-ketoreductase deficiency, is related to hypertension and pseudohypoaldosteronism. An important gene associated with Apparent Mineralocorticoid Excess Syndrome is HSD11B2 (hydroxysteroid (11-beta) dehydrogenase 2), and among its related pathways are ACE Inhibitor Pathway, Pharmacodynamics and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. The compounds cortisone acetate and hydroxysteroid have been mentioned in the context of this disorder. Affiliated tissues include kidney.

Aliases & Descriptions for Apparent Mineralocorticoid Excess Syndrome

Sources:
6Disease Ontology, 7diseasecard, 30NIH Rare Diseases, 16GeneTests, 8DISEASES, 43UMLS, 24MeSH, 40SNOMED-CT
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Aliases & Descriptions:

apparent mineralocorticoid excess syndrome 6 8
cortisol 11-beta-ketoreductase deficiency 30 16 43
apparent mineralocorticoid excess 7 30 16
ame 30 16
syndrome of apparent mineralocorticoid excess (disorder) 6
mineralocorticoid excess syndrome, apparent 43
ame 1 30
ame1 16

External Ids:

SNOMED-CT40 237770005

Related Diseases for Apparent Mineralocorticoid Excess Syndrome

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13GeneCards, 14GeneDecks
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Diseases related to apparent mineralocorticoid excess syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 145)
idRelated DiseaseScoreTop Affiliating Genes
1hypertension30.9NR3C2, HSD11B1, HSD17B6, HSD11B2, REN
2pseudohypoaldosteronism29.6NR3C2, REN
3adrenal hyperplasia28.3REN, HSD11B2, HSD17B6, NR3C2
4aldosteronism28.2NR3C2, HSD11B1, HSD11B2, REN
5cholesterol26.0NR3C2, HSD11B1, HSD11B2, REN
6insulin resistance25.5NR3C2, HSD11B1, HSD11B2, REN
7proteinuria25.0REN, HSD11B2, NR3C2
8obesity24.8NR3C2, HSD11B1, HSD17B6, HSD11B2, REN
9diabetes mellitus23.5NR3C2, HSD11B1, HSD17B6, HSD11B2, REN
10low renin hypertension12.9REN, HSD11B2
11ocular hypertension12.7HSD11B2, HSD11B1
12cushing's syndrome12.6HSD11B2, NR3C2
13hypertension with brachydactyly12.5REN, NR3C2
14pseudohypoaldosteronism type ii12.5REN, NR3C2
15glucocorticoid-remediable aldosteronism12.5NR3C2, REN
16conn's syndrome12.5REN, NR3C2
17abcb11-related intrahepatic cholestasis12.5REN, NR3C2
18high blood pressure12.4REN, NR3C2
19hyperandrogenism12.4REN, HSD11B1
20acth deficiency12.4HSD11B1, NR3C2
21renal tubular acidosis12.4NR3C2, REN
22addison's disease12.3REN, HSD11B1
23adrenal adenoma12.3HSD11B1, HSD11B2, REN
24crohn's disease12.3HSD11B1, HSD11B2
25brachydactyly12.3NR3C2, REN
26growth hormone deficiency12.3HSD11B1, HSD11B2, REN
27congestive heart failure12.2NR3C2, REN
28glaucoma12.1REN, HSD11B2, HSD11B1
29anuria12.1NR3C2, HSD11B2, REN
30liddle syndrome12.1REN, HSD11B2, NR3C2
31hyperaldosteronism12.1NR3C2, HSD11B2, REN
32twinning12.1REN, HSD11B2, HSD11B1
33pre-eclampsia12.0NR3C2, HSD11B2, REN
34chronic kidney failure12.0NR3C2, HSD11B2, REN
35atrial fibrillation12.0NR3C2, HSD11B2, REN
36nephrotic syndrome12.0REN, HSD11B2, NR3C2
37essential hypertension11.9REN, HSD11B2, NR3C2
38hypertrophy of breast11.8NR3C2, HSD11B1, REN
39obesity, association with11.7HSD11B1, NR3C2
40hypokalemia11.6NR3C2, HSD17B6, HSD11B2, REN
41inflammatory bowel disease11.6HSD11B2, HSD11B1, NR3C2
42glucocorticoid resistance11.5NR3C2, HSD11B1, HSD11B2, REN
43polycystic ovary syndrome11.4REN, HSD17B6, HSD11B1, NR3C2
44adenoma10.9NR3C2, HSD11B1, HSD17B6, HSD11B2, REN
45carcinoma7.6
46prostatitis7.4
4711-beta-hydroxylase deficiency7.3
48leukemia7.2
49amelogenesis imperfecta6.5
50cerebritis6.5

Graphical network of the top 20 diseases related to apparent mineralocorticoid excess syndrome:



Graphical network of diseases related to apparent mineralocorticoid excess syndrome

Clinical Features for Apparent Mineralocorticoid Excess Syndrome

Drugs & Therapeutics for Apparent Mineralocorticoid Excess Syndrome

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

Search CenterWatch for apparent mineralocorticoid excess syndrome

Drug clinical trials:

Search ClinicalTrials for apparent mineralocorticoid excess syndrome

Search NIH Clinical Center for apparent mineralocorticoid excess syndrome

Search CenterWatch for apparent mineralocorticoid excess syndrome

Genetic Tests for Apparent Mineralocorticoid Excess Syndrome

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16GeneTests
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Genetic tests related to apparent mineralocorticoid excess syndrome:

id Genetic test Affiliating Genes
1 Apparent Mineralocorticoid Excess Syndrome
clinical/research
HSD11B2

Anatomical Context for Apparent Mineralocorticoid Excess Syndrome

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22MalaCards
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MalaCards organs/tissues related to apparent mineralocorticoid excess syndrome:

22
Kidney

Phenotypes for genes affiliated with Apparent Mineralocorticoid Excess Syndrome

Publications for genes affiliated with Apparent Mineralocorticoid Excess Syndrome

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35PubMed
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Articles related to apparent mineralocorticoid excess syndrome:

idTitleAuthorsYearAffiliating Genes
1Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene. (19169481)Coeli F.B.... de-Mello M.P.2008HSD11B2
2From gene to disease; 'apparent mineralocorticoid excess' syndrome, a syndrome with an apparent excess of mineral corticoids (17447595)Levtchenko E.N.... Lenders J.W.2007NR3C2, HSD11B2
3Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population. (15134813)Quinkler M.... Stewart P.M.2004NR3C2, HSD11B2
4Apparent mineralocorticoid excess syndrome: an overview. (15761540)Palermo M.... Stewart P.M.2004NR3C2, HSD11B2
5Does kidney transplantation normalise cortisol metabolism in apparent mineralocorticoid excess syndrome? (11005270)Palermo M.... Shackleton C.H.2000NR3C2, HSD11B2

Expression for genes affiliated with Apparent Mineralocorticoid Excess Syndrome

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Apparent Mineralocorticoid Excess Syndrome

Pathways for genes affiliated with Apparent Mineralocorticoid Excess Syndrome

Sources:
34PharmGKB, 20KEGG
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Pathways related to apparent mineralocorticoid excess syndrome according to GeneDecks:

idPathwayScoreTop Affiliating Genes
1ACE Inhibitor Pathway, Pharmacodynamics349.4NR3C2
2Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics349.1REN, NR3C2
3Steroid hormone biosynthesis208.8HSD11B2, HSD17B6, HSD11B1
4Aldosterone-regulated sodium reabsorption208.6HSD11B2, HSD11B1, NR3C2

Compounds for genes affiliated with Apparent Mineralocorticoid Excess Syndrome

Sources:
32Novoseek , 9DrugBank, 42Tocris Bioscience, 34PharmGKB, 18HMDB
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Compounds related to apparent mineralocorticoid excess syndrome according to GeneDecks:

(show top 50)    (show all 59)
idCompoundScoreTop Affiliating Genes
1cortisone acetate32 9 9 11.8HSD11B1, HSD11B2
2hydroxysteroid32 9.6HSD11B2, HSD11B1
311alpha-hydroxyprogesterone32 9.6HSD11B2, NR3C2
4nadp+32 9.6HSD11B1, HSD11B2
5tetrahydroaldosterone32 9.5NR3C2, REN
6furosemide32 42 34 9 18 9 14.5HSD11B2, REN
7drospirenone32 34 9 9 12.5NR3C2, REN
8fludrocortisone32 9 9 11.5NR3C2, REN
9eplerenone32 42 9 9 12.5REN, NR3C2
10(11-BETA)-11,21-DIHYDROXY-PREGN-4-ENE-3,20-DIONE9 9 10.4NR3C2, HSD11B1
1111 deoxycortisol32 9.4REN, NR3C2
12thiazide32 9.4NR3C2, REN
13felodipine32 9 9 11.3REN, NR3C2
14fluticasone propionate32 42 9 9 12.3NR3C2, HSD11B2
15metyrapone32 42 9 9 12.3HSD11B1, NR3C2
16androstenedione32 18 10.3REN, HSD11B2, HSD11B1
17prostaglandin32 9.2HSD11B1, HSD11B2, REN
18captopril32 42 9 9 12.1REN, NR3C2
19doca32 9.1NR3C2, HSD11B2, REN
20hydrochlorothiazide32 34 9 18 9 13.1NR3C2, HSD11B2, REN
21spironolactone32 42 34 9 9 13.1NR3C2, HSD11B2, REN
22allotetrahydrocortisol32 9.0HSD11B2, HSD11B1, NR3C2
23tetrahydrocortisol32 18 10.0NR3C2, HSD11B1, HSD11B2
24tetrahydrocortisone32 18 10.0NR3C2, HSD11B1, HSD11B2
25dihydrotestosterone32 9 18 9 12.0HSD11B2, HSD17B6, NR3C2
2611-dehydrocorticosterone32 18 10.0HSD11B2, HSD11B1, NR3C2
27cortisone32 18 10.0HSD11B2, HSD11B1, NR3C2
283beta-hydroxysteroid32 9.0HSD11B2, HSD11B1, NR3C2
29dhea32 9.0HSD11B2, HSD11B1, NR3C2
30nad+32 8.9NR3C2, HSD11B1, HSD11B2
31mifepristone32 42 9 9 11.9HSD11B2, HSD11B1, NR3C2
32prednisolone32 9 9 10.9HSD11B2, HSD11B1, NR3C2
33ang ii32 8.8REN, NR3C2
34norepinephrine32 9 18 9 11.8REN, HSD11B2, NR3C2
35ribonucleic acid32 8.8HSD11B2, HSD11B1, NR3C2
36forskolin32 42 9 9 11.8REN, HSD11B2, HSD11B1
37potassium32 9 18 9 11.7REN, HSD11B2, NR3C2
38carbenoxolone32 9 9 10.5REN, HSD11B2, HSD11B1, NR3C2
39glycyrrhetinic acid32 18 9.5NR3C2, HSD11B1, HSD11B2, REN
40glycyrrhizin32 8.5NR3C2, HSD11B1, HSD11B2, REN
4111beta-hydroxysteroid32 8.5NR3C2, HSD11B1, HSD11B2, REN
42corticosterone32 18 9.5REN, HSD11B2, HSD11B1, NR3C2
43hydrocortisone32 9 9 10.5REN, HSD11B2, HSD11B1, NR3C2
44acth32 8.5REN, HSD11B2, HSD11B1, NR3C2
45nadh32 9 18 9 11.5NR3C2, HSD11B1, HSD17B6, HSD11B2
46sodium32 18 9.4REN, HSD11B2, HSD11B1, NR3C2
47cholesterol32 9 18 9 11.4NR3C2, HSD11B1, HSD11B2, REN
48steroid32 8.4NR3C2, HSD11B1, HSD11B2, REN
49dexamethasone32 42 34 9 9 12.4NR3C2, HSD11B1, HSD11B2, REN
50estradiol32 9 18 9 11.0NR3C2, HSD11B1, HSD17B6, HSD11B2, REN

GO Terms for genes affiliated with Apparent Mineralocorticoid Excess Syndrome

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12Gene Ontology
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Biological processes related to apparent mineralocorticoid excess syndrome according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glucocorticoid biosynthetic processGO:0067049.4HSD11B2, HSD11B1

Molecular functions related to apparent mineralocorticoid excess syndrome according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1steroid bindingGO:0054969.2HSD11B2, NR3C2
211-beta-hydroxysteroid dehydrogenase [NAD(P)] activityGO:0038459.1HSD11B2, HSD11B1

Sources for Apparent Mineralocorticoid Excess Syndrome

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS