AME
MCID: APP001
MIFTS: 45

Apparent Mineralocorticoid Excess Syndrome (AME) malady

Cardiovascular, Nephrological, Endocrine categories

Summaries for Apparent Mineralocorticoid Excess Syndrome

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 pseudohypoaldosteronism. 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:47 218030

Aliases & Classifications for Apparent Mineralocorticoid Excess Syndrome

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 57SNOMED-CT, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Cardiovascular, Nephrological, Endocrine


Characteristics (Orphanet epidemiological data):

49
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 43 20 22 47 49
cortisol 11-beta-ketoreductase deficiency 43 61
11-beta-hydroxysteroid dehydrogenase deficiency type 2 49
syndrome of apparent mineralocorticoid excess 8
mineralocorticoid excess syndrome, apparent 61
ulick syndrome 49
ame 1 43
ame 43


External Ids:

Disease Ontology8 DOID:4367
MeSH35 D043204
OMIM47 218030
MESH via Orphanet36 C537422, D043204
SNOMED-CT57 237770005
ICD10 via Orphanet26 E26.1
SNOMED-CT via Orphanet58 237770005
UMLS via Orphanet62 C0342488, C2936861

Related Diseases for Apparent Mineralocorticoid Excess Syndrome

Sources:
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 114)
idRelated DiseaseScoreTop Affiliating Genes
1glucocorticoid-remediable aldosteronism30.4REN, NR3C2
2pseudohypoaldosteronism30.3REN, NR3C2
3osteoporosis29.7HSD11B1, HSD11B2
4acromegaly29.7HSD11B1, HSD11B2
5n syndrome10.4
6liddle syndrome10.4
7acute mountain sickness10.4
8nephrocalcinosis10.3
9kid syndrome10.3
10amelogenesis imperfecta10.3
11congenital adrenal hyperplasia10.2
12dwarfism10.2
13aortic valve stenosis10.1
14root resorption10.0
15rheumatic fever10.0
16sigmoid disease10.0
17freemartinism10.0
18eosinophilic esophagitis10.0
19dental pulp necrosis10.0
20ulcerative colitis10.0
21peyronie's disease10.0
22rheumatic aortic valve stenosis10.0
23familial hypercholesterolemia10.0
24dental fluorosis10.0
25arthritis10.0
26brain cancer10.0
27turner syndrome10.0
28ablepharon macrostomia syndrome10.0
29barber say syndrome10.0
30hypercholesterolemia10.0
31fainting10.0
32esophagitis, eosinophilic, 210.0
33addison's disease10.0REN
34brachydactyly10.0REN
35acth deficiency10.0HSD11B1
36low renin hypertension10.0HSD11B2, REN
37cushing's syndrome10.0HSD11B2, NR3C2
38pseudohypoaldosteronism type ii10.0REN, NR3C2
39conn's syndrome10.0NR3C2, REN
40congestive heart failure10.0REN, NR3C2
41polycystic ovary syndrome10.0NR3C2, HSD11B1
42metabolic acidosis10.0REN, NR3C2
43glaucoma10.0HSD11B1, HSD11B2
44hyperaldosteronism10.0REN, NR3C2, HSD11B2
45hypokalemia10.0REN, NR3C2, HSD11B2
46diabetic nephropathy10.0REN, NR3C2, HSD11B2
47primary hyperoxaluria10.0REN, NR3C2
48pre-eclampsia10.0REN, NR3C2, HSD11B2
49chronic kidney failure10.0REN, NR3C2, HSD11B2
50proteinuria10.0REN, NR3C2, HSD11B2

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

Sources:
47OMIM
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Clinical features from OMIM:

218030

Clinical synopsis from OMIM:

218030

Drugs & Therapeutics for Apparent Mineralocorticoid Excess Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Apparent Mineralocorticoid Excess Syndrome:

33
Kidney

Animal Models for Apparent Mineralocorticoid Excess Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Apparent Mineralocorticoid Excess Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.4REN
2MP:00053858.1REN, NR3C2, HSD11B1, HSD11B2

Publications for Apparent Mineralocorticoid Excess Syndrome

Sources:
51PubMed
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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

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Apparent Mineralocorticoid Excess Syndrome:

63 (show all 14)
id Symbol AA change Variation 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

Sources:
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

Sources:
30KEGG, 38NCBI BioSystems Database, 54Reactome, 50PharmGKB
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Compounds for genes affiliated with Apparent Mineralocorticoid Excess Syndrome

Sources:
45Novoseek, 11DrugBank, 24HMDB, 60Tocris Bioscience, 29IUPHAR, 50PharmGKB, 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-hydroxyprogesterone459.9NR3C2, HSD11B2
2cortisone acetate45 1110.8HSD11B1, HSD11B2
3(11-BETA)-11,21-DIHYDROXY-PREGN-4-ENE-3,20-DIONE119.7NR3C2, HSD11B1
4hydroxysteroid459.6HSD11B2, HSD11B1
5estradiol45 11 2411.6REN, HSD17B6
6tetrahydroaldosterone459.5REN, NR3C2
7metyrapone60 45 1111.5NR3C2, HSD11B1
8fludrocortisone45 29 1111.5NR3C2, REN
9drospirenone45 50 29 1112.5NR3C2, REN
10eplerenone45 60 29 1112.4NR3C2, REN
1111 deoxycortisol459.4REN, NR3C2
12nadp+459.4HSD11B2, HSD11B1
13thiazide459.4REN, NR3C2
14allotetrahydrocortisol459.3HSD11B2, HSD11B1, NR3C2
15tetrahydrocortisone45 2410.3HSD11B2, HSD11B1, NR3C2
16tetrahydrocortisol45 2410.3HSD11B2, HSD11B1, NR3C2
17dihydrotestosterone45 29 11 2412.3NR3C2, HSD17B6, HSD11B2
1811-dehydrocorticosterone45 2410.3NR3C2, HSD11B1, HSD11B2
19cortisol29 2410.3HSD11B2, HSD11B1, NR3C2
20cortisone45 2410.3HSD11B2, HSD11B1, NR3C2
213beta-hydroxysteroid459.3HSD11B2, HSD11B1, NR3C2
22dhea459.3NR3C2, HSD11B1, HSD11B2
23felodipine45 29 1111.2REN, NR3C2
24nad+459.2HSD11B2, HSD11B1, NR3C2
25mifepristone45 60 29 1112.2NR3C2, HSD11B1, HSD11B2
26prednisolone45 29 1111.2NR3C2, HSD11B1, HSD11B2
27fluticasone propionate45 50 60 1112.2NR3C2, HSD11B2
28nad29 2410.1HSD11B2, HSD11B1, HSD17B6
29doca459.1HSD11B2, NR3C2, REN
30ribonucleic acid459.1NR3C2, HSD11B1, HSD11B2
31hydrochlorothiazide45 50 29 11 2413.1REN, NR3C2, HSD11B2
32spironolactone50 45 60 29 1113.1HSD11B2, NR3C2, REN
33androstenedione45 2410.0HSD11B2, HSD11B1, REN
34prostaglandin458.9REN, HSD11B1, HSD11B2
35nadh45 11 2410.8NR3C2, HSD17B6, HSD11B1, HSD11B2
36norepinephrine45 11 2410.7REN, NR3C2, HSD11B2
37potassium45 11 2410.6REN, NR3C2, HSD11B2
38forskolin45 50 1110.6REN, HSD11B1, HSD11B2
39glycyrrhetinic acid45 249.5REN, NR3C2, HSD11B1, HSD11B2
40glycyrrhizin45 299.5HSD11B2, HSD11B1, NR3C2, REN
41carbenoxolone29 45 1110.5HSD11B2, HSD11B1, NR3C2, REN
4211beta-hydroxysteroid458.5REN, NR3C2, HSD11B1, HSD11B2
43corticosterone45 60 2410.5REN, NR3C2, HSD11B1, HSD11B2
44hydrocortisone45 2 60 1111.5REN, NR3C2, HSD11B1, HSD11B2
45acth458.5HSD11B2, HSD11B1, NR3C2, REN
46sodium45 249.4REN, NR3C2, HSD11B1, HSD11B2
47cholesterol45 29 11 2411.4HSD11B2, HSD11B1, NR3C2, REN
48steroid458.4HSD11B2, HSD11B1, NR3C2, REN
49dexamethasone45 50 29 1111.4REN, NR3C2, HSD11B1, HSD11B2
50glucose458.3REN, NR3C2, HSD11B1, HSD11B2

GO Terms for genes affiliated with Apparent Mineralocorticoid Excess Syndrome

Sources:
16Gene Ontology
See all sources

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet