AME
MCID: APP001
MIFTS: 56

Apparent Mineralocorticoid Excess Syndrome (AME) malady

Cardiovascular diseases, Nephrological diseases, Endocrine diseases categories

Summaries for Apparent Mineralocorticoid Excess Syndrome

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Apparent mineralocorticoid excess (AME) is an autosomal recessive disorder causing hypertension (high... more...

MalaCards: Apparent Mineralocorticoid Excess Syndrome, also known as apparent mineralocorticoid excess, is related to glucocorticoid-remediable aldosteronism and hypertension. An important gene associated with Apparent Mineralocorticoid Excess Syndrome is HSD11B2 (hydroxysteroid (11-beta) dehydrogenase 2), and among its related pathways are Aldosterone-regulated sodium reabsorption and Prostaglandin Synthesis and Regulation. The compounds 11alpha-hydroxyprogesterone and cortisone acetate have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related mouse phenotypes are muscle and cardiovascular system.

Description from OMIM:46 218030

Aliases & Classifications for Apparent Mineralocorticoid Excess Syndrome

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 56SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
apparent mineralocorticoid excess:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

apparent mineralocorticoid excess syndrome 8 10
apparent mineralocorticoid excess 9 42 20 22 46 48
cortisol 11-beta-ketoreductase deficiency 42 60
11-beta-hydroxysteroid dehydrogenase deficiency type 2 48
syndrome of apparent mineralocorticoid excess 8
mineralocorticoid excess syndrome, apparent 60
ulick syndrome 48
ame 1 42
ame 42


External Ids:

Disease Ontology8 DOID:4367
MeSH34 D043204
OMIM46 218030
MESH via Orphanet35 C537422, D043204
SNOMED-CT56 237770005
ICD10 via Orphanet26 E26.1
SNOMED-CT via Orphanet57 237770005
UMLS via Orphanet61 C0342488, C2936861

Related Diseases for Apparent Mineralocorticoid Excess Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Apparent Mineralocorticoid Excess Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 138)
idRelated DiseaseScoreTop Affiliating Genes
1glucocorticoid-remediable aldosteronism30.4REN, NR3C2
2hypertension30.4REN, NR3C2, HSD11B1, HSD11B2
3pseudohypoaldosteronism30.3REN, NR3C2
4chronic kidney failure29.9REN, NR3C2, HSD11B2
5glaucoma29.7HSD11B1, HSD11B2
6pre-eclampsia29.7REN, NR3C2, HSD11B2
7osteoporosis29.7HSD11B1, HSD11B2
8obesity29.7HSD11B2, HSD11B1, NR3C2
9acromegaly29.7HSD11B1, HSD11B2
10liddle syndrome10.4
11nephrocalcinosis10.3
12amelogenesis imperfecta10.2
13prostatitis10.2
14congenital adrenal hyperplasia10.2
15leukemia10.2
16cataract10.1
17dwarfism10.1
18aortic valve stenosis10.1
19myeloid leukemia10.1
20right bundle branch block10.0
21root resorption10.0
22rheumatic fever10.0
23freemartinism10.0
24cerebritis10.0
25eosinophilic esophagitis10.0
26dental pulp necrosis10.0
27ulcerative colitis10.0
28peyronie's disease10.0
29nasopharyngitis10.0
30rheumatic aortic valve stenosis10.0
31familial hypercholesterolemia10.0
32dental fluorosis10.0
33arthritis10.0
34bursitis10.0
35childhood leukemia10.0
36corneal dystrophy10.0
37esophagitis10.0
38impotence10.0
39intestinal disease10.0
40penile disease10.0
41rectal disease10.0
42retinitis10.0
43turner syndrome10.0
44ablepharon macrostomia syndrome10.0
45barber say syndrome10.0
46addison's disease10.0REN
47brachydactyly10.0REN
48acth deficiency10.0HSD11B1
49low renin hypertension10.0HSD11B2, REN
50cushing's syndrome10.0HSD11B2, NR3C2

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



Diseases related to apparent mineralocorticoid excess syndrome

Clinical Features for Apparent Mineralocorticoid Excess Syndrome

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46OMIM
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Clinical features from OMIM:

218030

Clinical synopsis from OMIM:

218030

Drugs & Therapeutics for Apparent Mineralocorticoid Excess Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Apparent Mineralocorticoid Excess Syndrome

Drug clinical trials:

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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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20GeneTests, 22GTR
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Genetic tests related to Apparent Mineralocorticoid Excess Syndrome:

id Genetic test Affiliating Genes
1 Apparent Mineralocorticoid Excess Syndrome20 HSD11B2
2 Apparent Mineralocorticoid Excess22

Anatomical Context for Apparent Mineralocorticoid Excess Syndrome

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32MalaCards
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MalaCards organs/tissues related to Apparent Mineralocorticoid Excess Syndrome:

32
Kidney

Animal Models for Apparent Mineralocorticoid Excess Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Apparent Mineralocorticoid Excess Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.4REN
2MP:00053858.1REN, NR3C2, HSD11B1, HSD11B2

Publications for Apparent Mineralocorticoid Excess Syndrome

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50PubMed
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Articles related to Apparent Mineralocorticoid Excess Syndrome:

(show all 15)
idTitleAuthorsYear
1
Apparent mineralocorticoid excess syndrome: report of one family with three affected children. (23329753)
2012
2
Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene. (19169481)
2008
3
From gene to disease; 'apparent mineralocorticoid excess' syndrome, a syndrome with an apparent excess of mineral corticoids]. (17447595)
2007
4
Distinction between Liddle syndrome and apparent mineralocorticoid excess. (14625721)
2004
5
Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population. (15134813)
2004
6
Apparent mineralocorticoid excess syndrome: an overview. (15761540)
2004
7
The distinction between Liddle syndrome and apparent mineralocorticoid excess. (12759812)
2003
8
Congenital deficiency of 11beta-hydroxysteroid dehydrogenase (apparent mineralocorticoid excess syndrome): diagnostic value of urinary free cortisol and cortisone. (11227727)
2001
9
Syndrome of apparent mineralocorticoid excess caused by a deficiency of 11 beta-hydroxysteroid dehydrogenase: clinical and genetic study in a Chilean family followed for 19 years]. (10883518)
2000
10
Nephrocalcinosis and renal cysts associated with apparent mineralocorticoid excess syndrome. (11095013)
2000
11
Does kidney transplantation normalise cortisol metabolism in apparent mineralocorticoid excess syndrome? (11005270)
2000
12
11 beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess. (9034789)
1997
13
Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11 beta-hydroxysteroid dehydrogenase type 2 gene. (8538347)
1996
14
Point mutations abolish 11 beta-hydroxysteroid dehydrogenase type II activity in three families with the congenital syndrome of apparent mineralocorticoid excess. (8793850)
1996
15
Two uncommon causes of mineralocorticoid excess. Syndrome of apparent mineralocorticoid excess and glucocorticoid-remediable aldosteronism. (1879399)
1991

Genetic Variations for Apparent Mineralocorticoid Excess Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Apparent Mineralocorticoid Excess Syndrome:

62 (show all 14)
id Symbol AA change Variation ID SNP ID
1HSD11B2p.Arg208CysVAR_006958
2HSD11B2p.Arg213CysVAR_006959
3HSD11B2p.Leu179ArgVAR_015635
4HSD11B2p.Ser180PheVAR_015636
5HSD11B2p.Arg186CysVAR_015637
6HSD11B2p.Arg208HisVAR_015638
7HSD11B2p.Ala237ValVAR_015640
8HSD11B2p.Asp244AsnVAR_015641
9HSD11B2p.Leu250ArgVAR_015642
10HSD11B2p.Arg279CysVAR_015644
11HSD11B2p.Ala328ValVAR_015645
12HSD11B2p.Tyr338HisVAR_015646
13HSD11B2p.Asp223AsnVAR_066514
14HSD11B2p.Arg337CysVAR_066515

Expression for genes affiliated with Apparent Mineralocorticoid Excess Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Apparent Mineralocorticoid Excess Syndrome

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

Pathways for genes affiliated with Apparent Mineralocorticoid Excess Syndrome

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29KEGG, 37NCBI BioSystems Database, 53Reactome, 49PharmGKB
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Compounds for genes affiliated with Apparent Mineralocorticoid Excess Syndrome

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44Novoseek, 11DrugBank, 24HMDB, 59Tocris Bioscience, 28IUPHAR, 49PharmGKB, 2BitterDB
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Compounds related to Apparent Mineralocorticoid Excess Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 63)
idCompoundScoreTop Affiliating Genes
111alpha-hydroxyprogesterone449.9NR3C2, HSD11B2
2cortisone acetate44 1110.8HSD11B1, HSD11B2
3(11-BETA)-11,21-DIHYDROXY-PREGN-4-ENE-3,20-DIONE119.7NR3C2, HSD11B1
4hydroxysteroid449.6HSD11B2, HSD11B1
5estradiol44 11 2411.6REN, HSD17B6
6tetrahydroaldosterone449.5REN, NR3C2
7metyrapone59 44 1111.5NR3C2, HSD11B1
8fludrocortisone44 28 1111.5NR3C2, REN
9drospirenone44 49 28 1112.5NR3C2, REN
10eplerenone44 59 28 1112.4NR3C2, REN
1111 deoxycortisol449.4REN, NR3C2
12nadp+449.4HSD11B2, HSD11B1
13thiazide449.4REN, NR3C2
14allotetrahydrocortisol449.3HSD11B2, HSD11B1, NR3C2
15tetrahydrocortisone44 2410.3HSD11B2, HSD11B1, NR3C2
16tetrahydrocortisol44 2410.3HSD11B2, HSD11B1, NR3C2
17dihydrotestosterone44 28 11 2412.3NR3C2, HSD17B6, HSD11B2
1811-dehydrocorticosterone44 2410.3NR3C2, HSD11B1, HSD11B2
19cortisol28 2410.3HSD11B2, HSD11B1, NR3C2
20cortisone44 2410.3HSD11B2, HSD11B1, NR3C2
213beta-hydroxysteroid449.3HSD11B2, HSD11B1, NR3C2
22dhea449.3NR3C2, HSD11B1, HSD11B2
23felodipine44 28 1111.2REN, NR3C2
24nad+449.2HSD11B2, HSD11B1, NR3C2
25mifepristone44 59 28 1112.2NR3C2, HSD11B1, HSD11B2
26prednisolone44 28 1111.2NR3C2, HSD11B1, HSD11B2
27fluticasone propionate44 49 59 1112.2NR3C2, HSD11B2
28nad28 2410.1HSD11B2, HSD11B1, HSD17B6
29doca449.1HSD11B2, NR3C2, REN
30ribonucleic acid449.1NR3C2, HSD11B1, HSD11B2
31hydrochlorothiazide44 49 28 11 2413.1REN, NR3C2, HSD11B2
32spironolactone49 44 59 28 1113.1HSD11B2, NR3C2, REN
33androstenedione44 2410.0HSD11B2, HSD11B1, REN
34prostaglandin448.9REN, HSD11B1, HSD11B2
35nadh44 11 2410.8NR3C2, HSD17B6, HSD11B1, HSD11B2
36norepinephrine44 11 2410.7REN, NR3C2, HSD11B2
37potassium44 11 2410.6REN, NR3C2, HSD11B2
38forskolin44 49 1110.6REN, HSD11B1, HSD11B2
39glycyrrhetinic acid44 249.5REN, NR3C2, HSD11B1, HSD11B2
40glycyrrhizin44 289.5HSD11B2, HSD11B1, NR3C2, REN
41carbenoxolone28 44 1110.5HSD11B2, HSD11B1, NR3C2, REN
4211beta-hydroxysteroid448.5REN, NR3C2, HSD11B1, HSD11B2
43corticosterone44 59 2410.5REN, NR3C2, HSD11B1, HSD11B2
44hydrocortisone44 2 59 1111.5REN, NR3C2, HSD11B1, HSD11B2
45acth448.5HSD11B2, HSD11B1, NR3C2, REN
46sodium44 249.4REN, NR3C2, HSD11B1, HSD11B2
47cholesterol44 28 11 2411.4HSD11B2, HSD11B1, NR3C2, REN
48steroid448.4HSD11B2, HSD11B1, NR3C2, REN
49dexamethasone44 49 28 1111.4REN, NR3C2, HSD11B1, HSD11B2
50glucose448.3REN, NR3C2, HSD11B1, HSD11B2

GO Terms for genes affiliated with Apparent Mineralocorticoid Excess Syndrome

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16Gene Ontology
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Biological processes related to Apparent Mineralocorticoid Excess Syndrome according to GeneCards/GeneDecks:

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

Molecular functions related to Apparent Mineralocorticoid Excess Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1steroid bindingGO:0054969.5NR3C2, HSD11B2
211-beta-hydroxysteroid dehydrogenase [NAD(P)] activityGO:0038459.1HSD11B1, HSD11B2

Products for genes affiliated with Apparent Mineralocorticoid Excess Syndrome

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Sources for Apparent Mineralocorticoid Excess Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet